Biology Power Review

SCIENCE
2 0 1 3
2 0 1 4
EDI TI ON
Genetics
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the World
Scholars Cup
EDI TOR
Josephine Richstad
SCIENCE
POWER GUIDE
ALPACA-I N-CHI EF
Daniel Berdichevsky
2013 DemiDec. DemiDec, The World Scholars Cup, Power Guide, and Cram Kit are registered trademarks of the DemiDec Corporation.
Academic Decathlon and USAD are registered trademarks of the United States Academic Decathlon Association.
.
`s
SCIENCE
POWER GUIDE
I. AUTHORS NOTE 2
II. INTRODUCTION. 3
III. CELLULAR REPRODUCTION 4
IV. THE PATTERN OF INHERITANCE. 29
V. MOLECULAR GENETICS. 45
VI. CONCLUSION 69
VII. POWER LISTS 70
VIII. PRACTICE TEST ANALYSIS.. 139
IX. ABOUT THE AUTHOR.. 141
X. ABOUT THE EDITOR..... 142
BY
ERIC YANG
THE COLONY HIGH SCHOOL
EDITED BY
JOSEPHINE RICHSTAD
PHDUCLA- BACOLUMBIA UNIVERSITY
TO THE TCHS NINE THAT COULD
Science Power Guide | 2
AUTHORS NOTE
Welcome, fellow Decathletes and future geneticists! By opening this Science Power Guide, you have ventured
on a journey that will cover two fascinating centuries of scientific discovery in the field of genetics, filled with
twists, turns, and the occasional dead end.
Im Eric Yang, resident science nerd and Honors Decathlete at The Colony High School. Ever since I was a
toddler, genetics has captured my curiosity
1
. Ive always been amazed that the diversity of Earths 8.7 million
species results from such tiny differences in DNA from one to the next. I hope this Power Guide can help
you learn more about why those differences make the difference that they do.
Throughout the Power Guide, I will be bolding key people, processes, structures, and other important terms.
All of the terms USAD bolds in the Resource Guide will be bolded here as well. A comprehensive list of these
bolded terms can be found in the Power Lists, at the end of the Power Guide. When USAD mentions a
concept in passing without explaining it fully, I will add context and background through footnotes. This
information will not be tested at competition, but will improve your understanding of the material. Footnotes
may also contain supplementary facts, mnemonic devices, or my attempts at genetic comedy. I have signed
those attempts, so feel free to skip those if youd like to avoid any unnecessary ROFL moments.
Please dont be daunted by the sheer length of the Power Guide. Ive rearranged the information in the USAD
Resource Guide to improve learning flow and added plenty of charts, tables, diagrams, and visuals to break
up the endless walls of text that often greet Decathletes when they begin their AcaDec journey.
How to Use This Power Guide
As per USAD, Section I explores the structure of cells and the process of cellular reproduction. Section II
analyzes Mendels laws of inheritance and other contributions to the field of genetics, while Section III tackles
genetic research and discoveries in the 20
th
and 21
st
centuries.
When reading USADs guide, ensure you
understand the techniques used for genetic
analysis (Punnett squares, Hardy-Weinberg
equation, Mendels laws of inheritance). This
basic knowledge will help clarify the applications
of genetics found in Section III. I also
recommend using the timelines found in the
back of the Power Guide to study the history of
geneticsits crucial to be able to match the
scientists with their discoveries and to remember
the order in which they occur.
As the days before competition draw near, focus
your studying on Section II. Not only is it the
section most familiar to high school students, but it also accounts for 1/3 of the test while taking up just
of the resource guide. Also be familiar with the terms in the USAD glossary and in the Power Lists at the
back of this guidetheyre a gold mine for test writers.
1
I was also resident science nerd in my family.
Section 1:
Cellular
Reproduction
30%
Section 2: The
Pattern of
Inheritance
35%
Section 3:
Molecular
Genetics
35%
INTRODUCTION
Why Genetics?
A Brief History
The Austrian monk Gregor Mendel launched the field of genetics
He sought to understand why purple flowers could produce white offspring
Few scientists were aware of Mendels work until the first decade of the 20th century
Today, genetics has affected many areas of our society
Section I explains basic cell structures and processes
It covers cellular evolution and the life cycle of a cell
Cellular division is the foundation for more complex concepts, such as the replication of
genetic material
Section II focuses on Mendelian genetics and its rediscovery around World War I
Sexually reproducing multicellular species have a wide range of inheritance patterns
Knowing these patterns can help scientists predict the inheritance of defective genes in
offspring
Section III discusses the modern synthesis of genetics and evolution
This section also examines genetics at the molecular level
Finally, the guide takes a closer look at current frontiers in genetics
These frontiers include epigenetics and modern applications of genetic information
Cancer and heart disease treatment
Drug production
Expansion of agricultural yields
Criminal suspect identification
Study of evolution
POWER PREVIEW POWER NOTES
Gregor Mendel laid the foundations of genetics 150 years ago,
but not until the early 1900s did scientists make major
breakthroughs in our understanding of genes and the
inheritance of traits from generation to generation. Today,
scientists apply genetic knowledge in a wide range of fields,
ranging from cancer treatments to criminal suspect
identification.
According to the USAD outline, 0
questions should come from the
Introduction.
0 questions come from the Introduction on
the USAD Science Practice Test
The Introduction covers pg. 5 of the USAD
Science Resource Guide
CELLULAR REPRODUCTION
A Not-So-Brief History of Genetics
Genetics Before Mendel
Many scientists and philosophers have speculated about reproduction, embryonic
development, and heredity
2
Aristotle hypothesized that the male parent passes a miniature individual to the female
parent through blood
3
transmission
4
2
Perhaps teenagers would spend less time on TMZ and more time on cool science experiments if they could all grow devilishly awesome
beards like the Greeks. - Eric
3
That would probably make The Talk less embarrassing for everyone. Josephine
4
Aristotle isnt referring to the blood in your arteries, but to semen (which he considered a purified form of blood) and a womans
menstrual flow.
Aristotle (384-322
B.C.)
Hippocrates (460-370
B.C.)
.
Socrates (469-399
B.C.)
Plato (428 - 348 B.C.)
The field of genetics originated in Greek philosophy over two
thousand years ago, but the combination of Gregor Mendels
and Charles Darwins studies brought it to the forefront of
modern science. In order to understand genetics, we must fully
grasp the complex structure and functions of prokaryotic and
eukaryotic cells, the processes that make up the cell cycle, and
the biological principles of reproduction that are the
cornerstone of Mendelian genetics.
questions (30%) should come from Section I
11 questions (22%) come from Section I on
the USAD Science Practice Test
Section 1 covers pgs. 6 - 29 of the USAD
Once inside the female, the individual grows and
matures in the womb
Aristotle explained his hypothesis in both the History of
Animals and Generation of Animals
The idea lasted for over 2,000 years, despite the
invention of the microscope
5
Nicolaas Hartsoeker reinforced the idea with his
drawing of miniature men (homunculus) within a
sperm cell
Hippocrates developed the theory of pangenesis
6
In Greek, pangenesis translates to whole birth
The theory explained why parents and children
had similar traits
He suggested that human organs came from organ
seedlings called gemmules
He thought gemmules migrated to the
reproductive organs at sexual maturity
Organ gemmules from each parent mixed to
form offspring
Joseph Kolreuter demonstrated the theory of blending
inheritance
7
in the 1760s
8
He conducted the first genetic crosses in scientific
history using tobacco plants
Charles Darwin incorporated blending inheritance
into his theory of evolution
Mendel and Beyond
Gregor Mendel radically altered scientists
understanding of genetics
In 1847, he entered a monastery in Brno, Austria-
Hungary
Brno is located in the present-day Czech
Republic
He would receive an education while training as a
priest
Mendel wanted to become a teacher
He had prior experience as a substitute
However, he failed his licensing exam
9
The monastery sent him to the University of Vienna for further education
He later returned to Brno and embarked on his breeding experiments
5
Microscopes allowed scientists to see the cell and its contents for the first time in history. Unfortunately, the cells that 17
th
century
scientists Hooke and van Leeuwenhoek studied were noticeably devoid of miniature human individuals.
6
Pangenesis was Charles Darwins preferred explanation for the heredity of traits: http://tinyurl.com/mog9m47
7
According to blending inheritance, the range of traits in the parents randomly determined the offsprings traits. For example, if the
mother was short and the father was tall, the child would have to be shorter than the father and taller than the mother. However,
eventually all the members of a generation would have the same height.
8
USAD does not clearly explain the difference between pangenesis and blending inheritance in the resource guide. After external
research, Ive come to believe that pangenesis is a sub-theory that biologically explains blending inheritance.
9
Twice.
While at Brno, Mendel cross-fertilized 30,000 pea plants
10
from 1856 to 1864
His experiments led him to develop the three laws of genetics
11
Mendel published Experiments on Plant Hybridization in 1866 in a local journal
12
In his paper, he theorized that a heritable factor controlled every trait
13
This heritable factor would later be called a gene
14
The scientific community overlooked Mendels article during his lifetime
Mendels contemporary Charles Darwin developed his theory of natural selection in the
mid-1850s
Darwin jointly presented his theory with British naturalist Alfred Russel Wallace at the
Linnean Society of London
151617
in 1858
Wallace studied Asian and Australian animals in the East Indies
Mendel's work gained new relevance when scientists discovered chromosomes in 1878
Chromosome means color body in Greek
This name arose when scientists found that certain dyes could stain them intensely
Three European scientists independently developed a method of staining chromosomes
and the nucleus
18
They sought to understand the process of cell division
Walther Flemming termed this process mitosis
This word came from a Greek word meaning thread
Genetic Discoveries of the Early 20
th
Century
In 1900, three scientists independently confirmed Mendels work
10
Apparently he began with animal breeding, but his superiors thought that was too racy for a monastery. Josephine
11
These are the law of segregation, law of independent assortment, and law of dominance. USAD explains these laws in Section II of the
Resource Guide, so I will do the same.
12
Specifically, the Proceedings of the Natural History Society of Brno. They had wild parties.
13
Mendel himself called this heritable factor an allele.
14
Hugo de Vries used the word "pangen" for particles of hereditary in 1889, while Wilhelm Johannsen used "gene" in 1909.
15
USAD mentions on page 7 of the Resource Guide that Darwin presented his ideas at the prestigious Royal Academy of Science, also
known as the Royal Society. Darwin was elected a fellow of this society in 1839, but most external sources point to the Linnean Society
of London as the correct target audience.
16
Neither Darwin nor Wallace presented their ideas in person, as Darwins infant son had recently died of scarlet fever and Wallace was
travelling in the East Indies. Instead, each wrote a paper detailing their theories that was to be read aloud. Today, they'd deliver their
talks through Skype.
17
In a nowinfamous statement, the president of the Linnean Society later wrote that the year 1858 contained no discoveries that would
revolutionize science. Oops.
18
Each of these three scientists discovered chromosomes in a different way. For example, while experimenting with cells from the fins
and gills of salamanders, Walther Flemming discovered a basophilic (base-loving) cellular structure that absorbed the basic dyes he
stained them with (thus the name color body). He called this structure chromatin.
Eduard Strasburger (Poland)
Edouard van Beneden (Belgium)
Walther Flemming (Germany)
These scientists linked genetics and evolution through studies of hybridized plants
All three scientists reached the same conclusions as Mendel did
De Vries first studied the role of mutation in evolution in 1890
De Vries acknowledged Mendels legacy when he published his work in 1900
Correns investigated the effect of extra-chromosomal factors on phenotypes
19
Like Mendel, Correns experimented with pea plants
He confirmed Mendels laws of segregation and independent assortment in a
January 1900 paper
Tschermak-Seysenegg
20
confirmed Mendels 3:1 phenotype ratio through plant
breeding experiments
He published his work in June 1900
Coincidentally, Tschermak-Seysenegg's grandfather taught Mendel botany at
the University of Vienna
Walter Sutton (United States) and Theodor Boveri (Germany) observed the segregation of
chromosomes in the nucleus during meiosis
21
These two scientists first recognized the role of chromosomes in inheritance
22
In 1905, William Bateson and Reginald Punnett discovered linked genes
23
and epistasis
24
Bateson previously studied the genetics of sweet peas
He coined the term genetics
In Greek, genno means to give birth
25
He also translated Mendels works into English
In 1910
26
, Nettie Stevens and Edmund Wilson
discovered that human males and females have
different sex chromosomes
Females have two X chromosomes
Males have one X and one Y chromosome
Sex chromosomes control traits such as color blindness and hemophilia
19
Phenotypes are an organisms physical traits. They will be explained in further detail in Section II.
20
Now thats a mouthful - Eric
21
During segregation, the two alleles responsible for a trait separate during gamete formation. This concept will be explained in more
detail in Section II.
22
This, conveniently enough, is known as the Boveri-Sutton chromosome theorem
23
Linked genes wait for it will be explained in further detail later.
24
Epistasis occurs when multiple genes control one trait, but one pair of alleles modifies or hides the effect of the others. Epistasis is
similar to polygenic inheritance, but in polygenic inheritance each gene is expressed equally: http://tinyurl.com/n7ko5oy
25
It also gives us such words as "generate," "general," "genealogy," and "Eugene."
26
USAD states that the sex chromosome was discovered in 1910, but Steven Brushs article Nettie M. Stevens and the Discovery of Sex
Determination by Chromosomes, published in Isis in 1978, points to 1905 as the correct date.
Carl Correns
(Germany)
Hugo de Vries
(Netherlands)
Erich von
Tschermak (Austria)
XX
(female)
XY (male)
Mendels law of independent assortment
27
does not apply to sex-linked traits
In 1902, Archibald Garrod investigated and described
alkaptonuria, or black urine disease
The disease results from a faulty amino acid
metabolism enzyme
The enzyme accumulates in blood and urine
It causes patients' urine to turn brown when
exposed to air
It also damages the heart valves, kidneys, and
cartilage
Alkaptonuria was the first disease linked to genes
Garrod called this disease an inborn error of
metabolism in a 1908 report
Genetic diseases such as alkaptonuria are carried
on recessive alleles
Thomas Hunt Morgan was the first geneticist to study
animals
Mendel had only conducted studies of plants
They bred easily and could be experimentally manipulated
However, the genetics of animals more closely resemble human genetics
Morgan concentrated his efforts on the pattern of eye color inheritance in fruit flies
28
He discovered fruit fly eye color was a sex-linked trait
Estella Elinor Carothers presented the first cytological
29
evidence of Mendels law of
independent assortment
She observed cell division in grasshopper testis
Geneticist and statistician R.A. Fisher published a 1918 paper uniting evolution and
Mendelian genetics
Fisher also studied population genetics, sexual selection, and fitness
He is best known today for launching the era of modern evolutionary synthesis
30
He worked alongside Sewall Wright and J.B.S. Haldane in this endeavor
Fisher controversially supported eugenics in the early 1900s
27
This law states that alleles for different traits are distributed to offspring independently from one another. Mendels three laws will be
further explained in Section II.
28
What do you call a Drosophila who likes to drink? A bar flyEric
29
Cytology means the study of cells, so Carothers discovered the first cellular evidence
30
This was the union of numerous scientific ideas that provided a concrete basis for the theory of evolution.
Founders of
modern
evolutionary
synthesis
R.A. Fisher
(Great Britain)
Sewall Wright
(United States)
J.B.S. Haldane
(Great Britain)
Eugenics grew out of the Social Darwinist
31
movement in the late 1800s
Social Darwinists argued that selective breeding could improve the genetic
composition of certain populations
They often sought to achieve racial purity and supremacy
Thomas Morgan showed that that environmental factors could alter fruit fly genes
His experiments undermined eugenicists' strict focus on "nature" rather than
"nurture"
Most scientists discredited eugenics after World War II
Morgan's experiments played a role
However, it was used as justification for widespread genocide
32
Scientists were wary of eugenics'
association with genocide
The Discovery of Cells
In order to investigate inheritance, scientists first needed
to understand the fundamental structures of life
Advanced laboratory instruments and technologies
boosted new biological discoveries in this area
The microscope has been particularly important
In the 18
th
century, Carolus Linnaeus (Carl von Linne
33
)
first categorized and named living organisms
He classified all living things into the animal,
vegetable, or mineral kingdoms
He did not include eubacteria or archaebacteria
34
Linnaeus is considered the father of modern
taxonomy
35
Today, scientists categorize all 1.8 million species on
Earth into three domains
36
The cell is the fundamental unit of life
The human body alone holds 50 trillion cells
10 to 20 times more microbes inhabit our bodies
These microbes can be any of over 1,000 different species
37
Robert Hooke first observed the cell in 1665
31
According to Social Darwinism, only the strongest members of human society deserved to live and reproduce. Otherwise, the human
race would slowly degenerate.
32
i.e. the Holocaust
33
Linnaeus changed his last name when the Swedish king Adolf Frederick granted him nobility in 1761.
34
Today, scientists divide life into six kingdoms: Eubacteria, Archaebacteria, Fungi, Protista, Animalia, and Plantae.
35
As mentioned earlier, taxonomy is the scientific discipline concerned with naming and describing species.
36
The domain is the highest taxonomic rank, above the kingdom. All life on Earth can be categorized into one of the three domains,
depending on the structure of their ribosomal RNA,
37
As Michael Pollan puts it, we're only 10% human. Check out his NYTimes article on microbiomes here:
http://tinyurl.com/microbiomes. Gross + cool. Josephine
Domains of Life
Eukarya Bacteria Archaea
He saw the cell wall of dried cork cells
38
In 1674, Anton van Leeuwenhoek saw live cells
He observed many organisms in a sample of pond water under a microscope
Robert Brown named and described the nucleus
39
He studied van Leeuwenhoeks drawings extensively
In 1831, he presented his findings about the nucleus to the Linnean Society of London
Three scientists jointly developed the cell theory in 1838
40
German physician Robert Koch made numerous breakthroughs in microbiology
He isolated the causative agent for anthrax in 1875
He also identified microorganisms as the cause of infectious diseases
41
Germany developed and deployed anthrax and other biological and chemical weapons
in World War I
42
The 1925 Geneva Protocol banned the use of microorganisms in warfare
It prohibited combatants from using infectious diseases as weapons
All You Need to Know About Cells, in a Nutshell
The Evolution and Diversity of Cells
Life began on Earth 3.8 billion years ago
38
Unfortunately, as the cells were no longer living, Hooke missed out on all of the good stuff.
39
Anton von Leeuwenhoek had first observed the nucleus in 1682.
40
USAD issued a correction on July 25, 2013, stating that Rudolf Virchows work on the cell theory came much later than Schleiden
and Schwanns work.
41
This discovery discredited the popular miasma theory
42
USAD states that it was alleged that the German Army had [used] anthrax, but most historians today accept that claim as fact,
though it is not well-documented: http://tinyurl.com/mo8gsnf and http://tinyurl.com/kw6y5v9
Mammalian Cells Algae Protozoa Bacteria
Cell Theory
Cells are the basic
units of life
Cells make up all
living organisms
All cells come from
pre-existing cells
Matthias Schleiden
(Germany)
Theodor Schwann Rudolf Virchow
Scientists believed that simple molecules formed organic molecules under the
conditions of the early Earth
In the 1950s, Stanley Miller and Harold Urey verified this hypothesis by forming
simple biological molecules in an experiment
43
Prokaryotes are single-cell organisms that exist alone or in clusters and chains
The word prokaryote means before nucleus
Prokaryotes have no nucleus
These organisms are grouped into either
Archaebacteria or Eubacteria
Archaebacteria can tolerate hostile living
conditions
Such environments can include hot
springs
Eubacteria are more common than
Archaebacteria
Therefore, scientists have attended
more closely to Eubacteria
Prokaryotic cells descended from nucleic acids
enclosed by a plasma membrane
This membrane consists of a phospholipid
bilayer
Each phospholipid
44
consists of a hydrophilic phosphate head and two
hydrophobic fatty acid tails
The molecule's head faces the bilayers extracellular surface
It is exposed to an aqueous external environment
The molecule's tails face the bilayers intracellular surface
The fatty acids cannot exist in an aqueous solution
The environment between the two phospholipid layers differs from the
external environment
The plasma membrane serves as the cells border
It also helps maintain equilibrium
Most prokaryotes have cell walls for protection
43
When the Earth was formed, its atmosphere consisted of methane, hydrogen, ammonia, and water. Miller believed that the Earth also
experienced continuous lightning storms, so he ran an electric current through the set-up.
44
A phospholipid is a type of fat molecule.
Carbon Dioxide
Hydrogen Gas
Water Vapor
Methane
Ammonia
Inorganic Molecules
Amino Acids
Nucleotides
Organic Molecules
Chlorophyll-containing bacteria can carry out photosynthesis
This group includes cyanobacteria
45
Other types of bacteria feed on chemicals
The bacteria rely on them for nutrients and energy
More complex eukaryotes evolved from prokaryotes
Eukaryote means true nucleus
Eukaryotic cells store DNA in the nucleus
Unlike prokaryotes, eukaryotes contain membrane-enclosed organelles
Each organelle carries out a specific function
There are four kingdoms of eukaryotes
The Architecture of Cells
All cells share certain characteristics
Different molecules make up subcellular structures
Lipids are nonpolar
46
and hydrophobic
4748
These molecules physically separate subcellular structures
Carbohydrates provide cells with energy
As cell "workers", proteins participate in many processes
Nucleic acids contain genetic information
They are located in the nucleus
Cells also contain minerals, salts, and vitamins
These are stored in the cytoplasm
Prokaryotes contain a variety of cell structures
The semi-permeable plasma membrane separates the cell from its environment
However, cells must be able to interact with their environment
45
Scientists believe the oxygen produced by early cyanobacteria led to a dramatic increase in biodiversity and the near-extinction of
oxygen-intolerant forms of life. Thanks to cyanobacteria, humans can flourish on Earth.
46
Nonpolar molecules share electrons equally among the atoms in the molecule. Fats, oil, and gasoline are nonpolar.
47
Water repels hydrophobic, or water fearing, molecules. Most hydrophobic molecules are also nonpolar.
48
And most hydrophobic dogs end up ruining our childhood. Josephine
Eukaryotic
Kingdoms
Protista Animalia Plantae Fungi
Protein
Processes
Transportation Recognition
Signal
transmission
Enzymatic
reactions
Surrounded by a
plasma membrane
Contain genetic
material
Produce
carbohydrates,
lipids, proteins,
and nucleic acids
Contain subcellular
structures with
distinct functions
Molecules travel in and out of the cell through several channels
Each of the channels is a protein embedded in the plasma membrane
The plasma membrane encloses a fluid-filled space known as the cytoplasm
Most cell activities take place in this space
The watery (aqueous) part of the cytoplasm is called the cytosol
The cytoplasm refers to the cytosol itself and to all subcellular organelles
floating in the cytosol
The nucleoid contains prokaryotic cell DNA
This region is circular-shaped
Several thousand genes control reproduction
and cellular processes
Ribosomes produce proteins
These organelles consist of ribosomal DNA and
around thirty six proteins
Thousands of ribosomes exist in the cytoplasm
of prokaryotic cells
Plasmids are circular DNA molecules that exist
outside of the nucleoid
They can replicate independently of the main
DNA molecule
Plasmids can house foreign genes
These genes often benefit the host
49
They can jump across bacteria and even
other species
The cell wall provides protection from
environmental changes
However, they also allow molecules to pass in
and out of the cell relatively freely
The composition of cell walls varies by cell type
Prokaryotic cell walls consist of a mixture of
peptides and carbohydrates
This mixture is called peptidoglycan
Plant cell walls are made of cellulose
In certain bacteria, capsules can attach to the
cell wall
49
For example, foreign genes can provide bacteria with the ability to fix nitrogen, provide resistance to naturally-occurring antibiotics, or
degrade recalcitrant organic compounds when nutrients are scarce.
Gates Tunnels Enzymes Pumps Receptors
Recognition
Molecules
Cytosol
Subcellular
Organelles
Cytoplasm
These capsules consist of long carbohydrate molecules known as
polysaccharides
Capsules trap nutrients from the environment
They also protect the bacteria from the hosts immune system
50
Certain appendages control cell movement
Whip-like flagella allow bacteria to freely move in fluids
Pili allow bacteria to attach to surfaces
These short, fine appendages are also known as fimbriae
Eukaryotic and prokaryotic cells differ in specific ways
Their plasma membranes have different protein structures
Membranes enclose most subcellular organelles in eukaryotic cells
51
Several non-membrane-bound structures exist in the cytoplasm
These structures include ribosomes and the cytoskeleton
Eukaryotes contain a wider variety of cell structures than prokaryotes do
In eukaryotes, this organelle specialization increases cell efficiency
The three parts of eukaryotic cells
Eukaryotic cells contain plasma membranes
Their structure and function are similar to
prokaryotic plasma membranes
The cytoplasm is located between the plasma
membrane and nucleus
Some metabolic processes occur directly in the
cytoplasm
One such process is the initial breakdown of
glucose
The cell uses glucose to make ATP
52
Most reactions occur in the organelles within the cytoplasm
The nucleus stores and transmits genetic information to
the rest of the cell
It is enclosed by a membrane
The nuclei of all human somatic cells have 46 chromosomes
Somatic cells include all body cells except egg and sperm
Each chromosome consists of a compressed DNA molecule bundled with proteins
Most eukaryotes contain multiple DNA molecules
In contrast, prokaryotes usually have only one DNA molecule
Each DNA molecule contains hundreds or thousands of genes
Each gene consists of a defined sequence of nucleotides
Inside the nucleus is the cell's nucleolus
This organelle manufactures ribosomal DNA
Ribosomes consist of ribosomal DNA strands and
more than 70 types of protein
Protein synthesis takes place in the ribosomes
This process of translation occurs after
DNA has been transcribed in the nucleus
Ribosomes occur in various places in the cell
50
Capsules can be found in the dreaded E. coli, Streptococcus, and Salmonella bacteria.
51
Recall that prokaryotic cells do not have subcellular organelles.
52
ATP stands for adenosine triphosphate. It is the main energy source for all known organisms.
Eukaryotic cell
Organelles
Cytoplasm
Plasma
membrane
Nucleotides
Genes
DNA
Chromosome
Some float freely in the cytosol
They manufacture cytosolic proteins for immediate use
Others attach themselves to the rough endoplasmic reticulum
They produce non-cytosolic proteins
The endomembrane system modifies and specializes these proteins
It then sends the proteins to organelles, membranes, or the external
environment
The endomembrane system consists of four main organelles
53
The endoplasmic reticulum (ER) is a group of interconnected membranous vesicles
It synthesizes, folds, and transports biological molecules
Rough ER contains many ribosomes
These ribosomes give it a rugged texture
Proteins travel to the rough ER after synthesis
Smooth ER (sER) synthesizes lipids, steroids, and carbohydrates
It also detoxifies poisons that enter the cell
Vesicles are membrane pockets that transport and temporarily store proteins
The ER, Golgi apparatus, and plasma membrane can form vesicles
The cell first absorbs an external molecule through endocytosis
The portion of the membrane that surrounds the molecule forms a vesicle
The Golgi apparatus modifies proteins
This organelle is also called the Golgi
complex or Golgi body
Membranous sacs receive proteins from the
rough ER
Then, the Golgi apparatus edits, packages,
and ships proteins to their final destination
Proteins can travel to other organelles
They can also leave the cell through
exocytosis
54
Lysosomes digest nutrients and eliminate waste
Digestive enzymes packaged in the Golgi
apparatus head here
Lysosomes consume food through
endocytosis
55
They also eliminate old, worn structures
This self-eating is called autophagy
Only animal cells contain lysosomes
The cytoskeleton has several roles within the cell
53
Nuclear envelope (used by USAD on page 16) and nuclear membrane are interchangeable. They both refer to the membrane that
encloses the cells nucleus.
54
In exocytosis, a vesicle fuses with the plasma membrane and releases its contents into the environment.
55
In the process of endocytosis, cells engulf and absorb molecules that cannot pass through the plasma membrane.
Nuclear
membrane
Endoplasmic
reticulum
Golgi
apparatus
Vesicles
Endomembrane
system
It consists of three main parts
56
56
In the illustration, both phagocytosis and pinocytosis are specialized forms of endocytosis.
Microtubules
Largest of the
cytoskeletal elements
Act as the cells skeletal
system and provide
intracellular support
Transport molecules
within the cell
Serve as spindle fibers
during meiosis
Produce cellular
movement by acting as
cilia and flagella
Intermediate Filaments
Cage-like filaments
Configured similarly to
the steel cables of
suspension bridges
Stabilize and maintain
the position of
organelles
Microfilaments
Akin to strings of beads
Thinnest of the
cytoskeletal elements
Provide strength,
mobility, and shape for
the cell
Involved in phagocytosis
(cell eating), pinocytosis
(cell drinking), muscle
contraction, and cell
movement
Roles of the
Cytoskeleton
Support and
maintain cell shape
Ease protein
transport within
the cell
Interact with
extracellular
anchor structures
Anchor internal
organelles
Ease cellular
movement
Cilia and flagella participate in cell movement and surface adhesion
57
The cell moves when bundled microtubules slide together
Mitochondria and chloroplasts produce a cells energy
One theory suggests that mitochondria and chloroplasts descended from ancient
prokaryotes
Some early prokaryotes may have lived symbiotically within eukaryotic cells
Konstantin Mereschkowski proposed this endosymbiosis theory in 1905
In plants and protists, central vacuoles perform the duties of the lysosome
57
USAD mentions that cilia and flagella play a role in surface adhesion on page 17. However, specialized adhesive molecules allow cells
to maintain contactwith structures in the extracellular matrix. (Nature)
Cilia
Small
projections from
the cell's surface
Used by cells in
the trachea and
fallopian tubes
Flagella
One or two tails
Move by lashing
back and forth
Used by sperm
cells
Mitochondria
Found in animal
cells
Produce adenosine
triphosphate (ATP)
through cellular
metabolism
Mitochondria and
chloroplasts
Replicate
independently and
survive on their
own
Contain their own
circular DNA
separate from the
nucleus
Contain
prokaryotic-like
ribosomes
Enclosed by a
double-layered
membrane
Chloroplast
Found in plant and
photosynthetic
protist cells
Contain
chlorophyll
Transform solar
energy into ATP
Certain organelles perform four key tasks during cellular reproduction
Centrosomes serve as microtubule organizing centers
A pair of centrioles within each centrosome anchors the microtubules
Microtubules produce spindle fibers
These fibers pull the chromatids and centrosomes further apart
In plant cells, microtubules attach to other organelles instead of centrosomes
Genetic Material and the Life Cycle of an Organism
Most cells of a given species have identical genetic information
For example, almost all human cells have 3.1 billion
nucleotides contained in 22,000 genes
Each gene has about 3,000 nucleotides
One gene codes for a protein with less than 1,000
amino acids
However, not all genes are expressed or activated
Only a few genes in the adult human body control
cell formation
These cells make up less than 5% of the entire human
genome
Reproduction transfers genetic material from parent to
offspring
This process ensures the survival of the species
Asexual reproduction can occur in both prokaryotes and
eukaryotes
This type of reproduction produces offspring identical to
the parents
Prokaryotes reproduce through binary fission
Central
Vacuole Jobs
Support the cell
wall
Maintain cellular
rigidity
Store wastes,
toxins, and
pigments
Ensure balanced
levels of salt in
cytoplasm
Eliminate excess
water
DNA replication
Organelle
duplication
Relocation of
duplicated
organelles
Distribution of
duplicated
organelles
The parent cell clones itself, forming an identical daughter cell
58
Scientists consider binary fission a simple form of reproduction
In an optimal environment, a bacterium can divide in 20 minutes
Over 10 hours, one bacterium can become 1 billion
However, eukaryotic cell division is more complex than prokaryotic cell division
Eukaryotes reproduce asexually in a variety of ways
All eukaryotic cells follow the cell cycle
In unicellular eukaryotes, the cell cycle creates a new generation of individuals
58
Let's hope the Kardashians don't figure out binary fission. Josephine
DNA
replication
creates two
DNA loops
The loops
attach to the
plasma
membrane
The cell
expands and
elongates
The plasma
membrane
pinches and
splits
Two identical
daughter cells
are formed
Binary fission
Absence of membrane enclosing
DNA
Simple cytoplasmic structure
Single DNA molecule
Presence of multiple chromosomes
Presence of nuclear envelope surrounding
chromosomes
Larger number of subcellular organelles Creation of a new cell wall in some organisms
What makes eukaryotic cell division
complex?
Eukaryotic
asexual
reproduction
Fission
Mitosis
Regeneration
Budding
It also enables many important biological processes
The cycle begins with the synthesis of molecules
It ends when two daughter cells are formed
One full cycle lasts 20 to 24 hours
During the cycle, the cell constantly grows and
replicates
Gaps occur between the phases of the cell
cycle
The cell cycle takes place in two main stages
The cell spends 90% of its life in interphase
During interphase, the cell replicates each
organelle and DNA molecule
The cell seeks to maintain homeostasis
59
A cell spends the other 10% of its life in mitosis
The three stages of interphase occur first
Organelles replicate in the G1
60
phase
The G1 phase involves constant RNA and
protein synthesis
These processes produce the proteins, lipids, and carbohydrates required to
assemble organelles
The cells genome replicates in the S
61
phase
During this phase, the cells 46 chromosomes double to 92
The cells 6.2 billion nucleotides increases to 12.4 billion
Each chromosome becomes two sister chromatids
The centromere and other adhesive proteins link the two chromatids
The replicated organelles assemble during the G2 phase
The four stages of mitosis occur after interphase
62
59
Homeostasis allows the cell to maintain a stable internal environment in a changing external environment.
60
The G stands for gap
61
The S stands for "synthesis"
62
The kinetochore is a protein structure where spindle fibers attach during late prophase.
Budding Fission
Embryonic
development
Growth Renewal
Regeneration
Replacement of
dead cells
Telophase
The cell seeks to return to
equilibrium
Chromosomes unwind and
disperse
The nucleolus and nuclear
envelope reassemble
The spindle microtubules and
centrosomes break down
Anaphase
Adhesive proteins bonding the
sister chromatids turn off
The centromere splits in two, and
the chromatids are now two
chromosomes
The kinetochore microtubules
pull the chromosomes towards
the poles
Polar microtubules continue to
elongate the cell
Metaphase
All chromosomes line up in the metaphase
plate in the middle of the cell
The kinetochore microtubules pull the sister
chromatids towards the cell's center
Polar microtubules continue to elongate the
cell
Late Prophase (Prometaphase)
The nuclear envelope
breaks into vesicles
Spindle microtubules
interact with the
chromosomes
Each sister chromatid
builds a kinetochore near
the centromere
The kinetochore
microtubules separate the
sister chromatids
Polar (or non-kinetochore)
microtubules begin to
elongate the cell and push
the centrosomes to the
opposite ends of the cell
Early Prophase
The dispersed sister
chromatids condense
The nuclei disassembles rRNA production stops
The centrosomes migrate
towards the poles
Spindle microtubules from
the microtubule organizing
center push away the two
centrosomes
Cytokinesis is the final stage of mitosis
Cytokinesis means cell move
63
During this stage, the plasma membrane
splits in two, forming two separate cells
In animal cells, cleavage breaks the plasma
membrane apart
First, microfilaments and microtubules
contract
This contraction creates a cleavage
furrow
Then, the cleavage furrow moves inward
The plasma membrane breaks in two
Finally, the cell becomes two daughter
cells
In plant cells, vesicles containing cellulose
assemble and fuse together
This process forms a cell plate
The cell plate then adds on
polysaccharides and proteins to form a
cell wall
Sexual reproduction
Sexual reproduction allows natural selection
A species in a constantly changing
environment requires genetic diversity to
survive
99.9% of eukaryotic organisms reproduce
sexually
Cells first exchanged genetic material
two billion years ago
This gene shuffling spreads beneficial
traits and eliminates disadvantageous
traits
Protists were the first organisms to reproduce
sexually
Several modern prokaryotes divide by
mitosis under ordinary conditions
They switch to sexual reproduction in a hostile or unstable environment
64
When a multicellular organism reproduces sexually, germ cells transfer genetic material
from parent to offspring
These immature germ cells contain 46 chromosomes
This number makes them diploid cells
Most somatic cells are also diploid
Germ cells move to the gonads when the organism is an embryo
Once in the gonads, the cells are called immature or gonadal gametes
63
Also one of the Jean Grey's lesser-known superpowers.
64
The genetic diversity produced by sexual reproduction would help ensure the species survival.
The cells remain inactive in the gonads
until puberty
However, in some organisms, female
gametes may begin to divide while still
in the embryo
This early division occurs in
humans
65
Once the offspring reaches puberty,
reproductive hormones signal the
immature gametes to start dividing
Germ cells mature into gametes by
dividing twice in a process called
gametogenesis
The newly created gametes are haploid
cells
They contain only 23
chromosomes
66
During fertilization, two gametes unite to form a fertilized egg
This zygote contains half of the fathers and half of the mothers genome
The zygote turns into stem cells after it has divided by mitosis five or six times
These cells can become any of the 260 types of adult human cells
The zygote continues to divide, creating the 50 trillion somatic cells found in adult
humans
Gametogenesis requires gametes to divide by meiosis
67
The interphases of mitosis and meiosis are nearly identical
However, mitosis involves the random movement and distribution of chromosomes
In contrast, chromosomes that carry the same type of genetic information will move
together in meiosis I
These chromosomes are known as homologous chromosomes
They come in pairs, one from both the maternal and paternal sides
Meiosis has two major phases, meiosis I and II
Prophase, metaphase, anaphase, and telophase each take place twice
65
Scientists estimate human females produce as many as 700,000 primary oocytes by the time they are born. Only 400 of these oocytes
will go through meiosis II and become fully developed egg cellsabout 30 years of ovulation for women, give or take a few pregnancies.
66
Think of hap as half, as haploid cells have half a full set of chromosomes. Di means two, as diploid cells have 23 pairs of matching
chromosomes.
67
Coolest Crash Course videos ever: http://tinyurl.com/nrucgn5 (mitosis) and http://tinyurl.com/b8k3naw (meiosis)
Male
Germ cells:
spermatogonia
Gonads: testes
Female
Germ cells: Oogonia Gonads: ovaries
Haploid sperm and
egg cells merge
during fertilization
The diploid zygote
contains genetic info
from the male and
female parent
Through mitosis, the
zygote creates the
50 trillion adult
human somatic cells
The events of prophase I differentiate mitosis and asexual reproduction from meiosis
and sexual reproduction
It is the longest phase of meiosis
This phase can take up to 90% of the total time required for cell division
During prophase I, homologous chromosomes
pair up
Each chromosome consists of two
connected sister chromatids
The two pairs of sister chromatids form a
double X pattern called a tetrad
Non-sister chromatids intertwine at regions
known as synapses
The chromatids break and reconnect,
During this process, they exchange
genes
This random crossing over of genetic
information fosters genetic diversity in the
daughter cells
In metaphase 1, the pairs of homologous
chromosomes move to the metaphase plate
68
One chromosome faces each pole of the cell
The tetrads orient randomly
Microtubules attach to the kinetochore of each
chromosome
In anaphase I, the pair of homologous
chromosomes split and migrate to the poles
Spindle fibers pull them
Sister chromatids are still attached by the centromere
Therefore, they move together
In telophase I, chromosomes move towards the poles
The nucleus of the daughter cells will later form at this site
The nuclear envelope reforms briefly
Chromosomes begin to disperse
Cytokinesis
69
initiates
At this point, each pole can be classified as haploid
70
However, the chromosomes do not re-replicate before moving on to meiosis II
71
Meiosis I and II are nearly identical
68
This is a region of the cell equidistant from the two spindle poles. Think of the metaphase plate as the cells equator.
69
Recall that cytokinesis is the final stage of cell division, when the plasma membrane splits in two.
70
Remember that haploid cells have 23 chromosomes, or half of a full set.
71
This lack of re-replication causes the four daughter cells to be haploid.
Chromatin condensation Nucleoli disappearance
Nuclear envelope fragmentation Spindle fiber formation
Cellular processes in meiosis prophase I
However, the sister chromatids in meiosis II are not identical
Crossing over in meiosis I results in non-identical sister chromatids
When male and female gametes join, they form a zygote
This zygote divides into increasing specialized cells through mitosis
During its first five or six divisions, the zygote divides into totipotent cells
72
These cells can become any of the 260 types of human cells
Further cell division produces pluripotent
73
cells
These cells can form any of the three germ layers
74
The three germ layers can form any type of human tissue
75
As cells continue to differentiate, they can form only certain types of specialized cells
These cells are described as multipotent
For example, multipotent bone marrow stem cells can become any of the 12
types of blood cells
They cannot differentiate into as many cell types as embryonic stem cells
By this point, multipotent cells are migrating to their future organ location
All multicellular organisms contain stem cells
Unlike regular cells, these cells can divide infinitely
76
They can also become one of many types of cells
Embryonic stem cells are pluripotent
Adult stem cells are multipotent
Daughter stem cells can either remain stem cells or specialize
Stem cells can continue dividing or enter the pool of inactive, reserve stem cells
Scientists have recently identified certain genes that control stem cells
72
Totipotent comes from the Latin word totus, meaning entire, and potential, or power. The zygote has the ability to become
any celleffectively demonstrating its full extent of power.
73
This comes from the Latin plurimus, meaning very many.
74
These are the endoderm (stomach, intestines, lungs), mesoderm (muscle, bone, and blood), and ectoderm (skin and nervous system).
Biologists can differentiate between animal phyla (the taxonomic classification directly under kingdom) by the number of germ layers in
the embryo. For example, chordates have all three germ layers, but sponges only have one.
75
Note that both totipotent and pluripotent cells can produce all 260 human cell types. However, totipotent cells can become the
placenta or other supporting cells in the mothers uterus. Therefore, they can give rise to a whole new organism if placed in another
uterus, while pluripotent cells will not.
76
When DNA replicates, around 100-200 nucleotides are lost at the tip of the chromosome. During the first several replications, non-
coding regions known as telomeres are eliminated, ensuring that the coding regions of DNA remain intact. After thousands of
replications, the chromosome will run out of telomere and cease to divide further. Stem cells have an enzyme known as telomerase that
continually add fragments of telomeres to chromosomes, ensuring their ability to replicate indefinitely.
Nuclear
envelope
disappears
Spindle fibers
form and
attach to
kinetochores
Prophase II
Sister
chromatids
align at the
metaphase
plate
Metaphase
II
Centromeres
split
Each
chromosome
towards the
poles
Anaphase II
Chromosomes
decondense
Nuclear
envelope
reforms
Telophase II
Cytoplasm
divides
Meiosis II
ends with
four haploid
daugher cells
Cytokinesis
They hope to discover a method of transforming adult somatic cells to pluripotent stem
cells
This transformation would allow doctors to create new cells to replace worn
tissues
For example, in the future scientists may be able to stimulate stem cells to
become cardiac muscle cells
These cells would replace damaged cells in patients with heart disease
Four Sources of Genetic Variation
Mutation drives genetic variation
A mutation is a change in the order of nucleotides
in the DNA molecule
Some mutations are harmless, while others can be
deadly
Some may eventually form a new species
Crossing over also leads to genetic variation
During meiosis prophase I, similar chromosomes
exchange genetic material
This process allows the mother and father to
each pass on certain traits
Crossing over can occur up to 60 times in a human
germ cell during meiosis
Meiosis metaphase I produces even more genetic
variation
In this phase, chromosomes shuffle around and
combine randomly
With 46 chromosomes, humans can produce 64
trillion possible chromosomal combinations
Random mating and fertilization also produces
genetic variation
Male gonads make 50 million sperm cells per day
Female ovaries hold one million reserve egg cells
Any of these can fuse together during conception
Somatic cells grouped by frequency of division
Certain cells do not need to divide as frequently
as others
The human body cannot produce enough
energy to keep 50 trillion cells dividing
constantly
Dividing cells continually undergo interphase
and M phase
Cells of this type die frequently
Only 10% of these cells divide at a given
point in time
This low percentage means the tissue can
continue to function normally
Non-dividing cells exist permanently in the G0
phase
Mutation types
Translocation
Inversion
Substitution
Addition
Deletion
This phase is not part of the cell cycle
These cells do not undergo division under normal conditions
They must function continually for the body to operate properly
If heart and brain cells ceased to function in order to conduct cell division, the entire
human body would shut down
Reproductively dormant cells normally reside in the G0 phase
Under certain circumstances, these cells can re-enter the cell cycle
For example, wound healing activates dormant cells
Other organisms contain reproductively dormant cells
For example, plant embryos in seeds do not actively divide
These cells will only reproduce in a favorable environment
Favorable environmental conditions will stimulate hormones within the cell
These hormones signal the cell to re-enter the cell cycle
Control of the Cell Cycle
Checkpoints in the cell cycle ensure that cells reproduce only in a suitable environment
The cell monitors certain characteristics
These characteristics have to pass inspection before the cell can enter the next
phase of the cell cycle
Dividing cells
Skin cells
Intestinal epithelial cells
Uterine endometrial cells
Non-dividing cells
Nerve cells in the brain
Hair cells in the ear
Heart muscle cells
Lens cells in the eye
Reproductively dormant
cells
Liver cells
Increasing levels of sunlight Fire
Temperature Presence of chemicals
Possible conditions for a favorable
reproductive environment
G1 phase
Cell Size
Nutrient availability
Growth
DNA damage
G2 phase
Cell size
DNA replication
M phase
Spindle fiber attachment
to chromosomes
Checkpoint malfunctions lead to
uncontrolled cell growth
Uncontrolled cell growth is better
known as cancer
Most human cancers form when genes
related to the cell cycle mutate and
malfunction
Without checkpoints in the cell cycle,
cells will proliferate rapidly
77
The cell cycle is missing roadblocks
that regulate cell division
Proteins that inhibit mitosis can fail to
function properly
Proteins that promote mitosis can be
over-expressed
Protein overexpression can
transform regular cells into
cancerous cells
Normal genes can also mutate into oncogenes
78
These genes stimulate excess cell growth
77
Interestingly enough, a cancer cell is the only other type of cell that can activate telomerase, allowing the cell to divide indefinitely (see
footnote 65).
78
The root onco comes from the Greek word onkos, meaning mass or bulk (i.e. a tumor). Thus, oncology is the study of cancer.
THE PATTERN OF INHERITANCE
Mendels Grand Experiment
Mendelian Genetics
Charles Darwin observed and collected data in the Galapagos Islands for several years
He grew to doubt the prevailing theory of blending inheritance
79
19
th
century scientists most commonly accepted blending inheritance as an
explanation for inherited traits
Darwin's contemporary Gregor Mendel sought to solve the mystery of genetic inheritance
definitively
Mendels career goal was to become a teacher
He held a part-time position as a substitute teacher in a Brno
80
monastery
At the same time, he was preparing to become a priest
After Mendel failed the teacher certification exam once, his abbot sent him to the
University of Vienna
81
Mendel studied numerous
subjects at university
After failing the teaching
exam for the second time, he
remained at the monastery
for the rest of his life
In 1868, he was elected
prelate
82
In 1854, Mendel embarked on a
plant hybridization experiment
He first had to gain the abbots
83
permission
Mendels study had two main goals
79
Remember this theory all the way back in Section 1? According to the theory of blending inheritance, offspring inherit a mix of their
parents traits.
80
Recall that Brno was a city in Austria-Hungary.
81
For chronological reference, Mendel failed the certification exam for the first time in 1850, entered the University of Vienna in 1851,
and failed the exam again in 1856.
82
Prelates are high-ranking church officials, such as bishops and abbots, who have the power to execute ordinary laws.
83
The abbot is the head of a monastery.
Mendels groundbreaking research on pea plants, based on the
principles of probability, provided the foundation of modern
genetics. The scientific world applies his three laws widely,
especially in the study of genetic diseases. Punnett squares
allow scientists to calculate the odds of inheriting a trait from
parents, while genetic testing enables quick detection and
treatment of inherited diseases and disorders.
According to the USAD outline, 17-18
questions (35%) should come from Section
II.
21 questions (42%) come from Section II
on the USAD Science Practice Test.
Section II covers pgs. 30-49 of the USAD
Mendel's
Studies
Botany
Mathematics
Fertilization
Cell theory
Physics
Medel used the garden pea (Pisum sativum) for his experiments
This seemingly wise decision may or may not have been intentional
84
He chose seven out of 34 traits
These traits vary from strain to strain
Each trait comes in two easily distinguishable forms
Using these traits simplified Mendels large-scale experiment
He could easily interpret and analyze the results
Mendel analyzed plants that differed only in one trait over multiple generations
He performed the first documented monohybrid cross
Dihybrid crosses analyze two traits simultaneously
Mendel was also the first scientist to apply mathematical modeling to genetics
Principles of probability
85
allowed him to predict and analyze the traits of future
generations
He had learned these principles at the University of Vienna
84
In this case, the abbot may have encouraged him to experiment with pea plants to ensure the monasterys economic survival, or
Mendel may have chosen the pea plant because it was the only plant available at that time. Mendel may have also known that pea plants
possessed traits conducive to scientific experimentation. Ultimately, we just don't know.
85
For the math nerds out there: Mendel used the binomial theorem to expand (o + b)
n
with n=2.
Study transmission of traits
over generations
Produce a profitable crop
for the monastery
Easy to grow Reproduce quickly
Easy to manipulate pollination
Easy to describe and
distinguish traits
Why pea plants?
Pea Plant Traits Plant height
Flower position
Flower color
Pod shape
Pod color
Pea shape
Pea color
Using thousands of pea plants provided enough experimental data to draw
statistically significant conclusions
Mendel observed three generations of pea plants
The first generation is the true-breeding
86
variety
This is the P generation
The second generation is the F1 generation
The F stands for filial, which derives from the Latin for son
If the F1 plants self-fertilize, they produce the F2 generation
Mendel noticed that the F1 generation only inherited one trait from the
parent
The F2 generation, however, displayed both traits
The F1 trait occurred in a 3:1 ratio
Mendel suspected that one trait could be dominant over the other
In one of his experiments, Mendel crossed a purebred white flower plant with a
purebred purple-flower plant
He sprayed the pollen from the purple flowers stamen on the white flowers stigma
87
All of the F1 flowers were purple
When Mendel reversed the experiment, the F1 flowers were still purple
This result showed that flower color was not a sex-linked trait
Mendel noticed that his experiment results contradicted the commonly accepted theory
of blending inheritance
The purple F1 flowers were identical to the parent purple flower
They did not display a blend of traits
He concluded that the purple flower color trait was dominant over white
By the binomial theorem
88
, purple flowers will occur of the time and white flowers
of the time
86
True-breeding means purebred, or an organism that has a homozygous genotype.
87
The stigma and stamen are the plants male and female reproductive organs, respectively.
88
The binomial theorem is also the basis for the all-so-important Hardy-Weinberg theorem, which will be discussed in the next section.
If two events are independent, then the probability that
they both occur is the product of the probabilities of each
occurring
P A onJ B = P A P(B)
Multiplication Rule
If two events are mutually exclusive, then the probability
of either event occuring is the sum of the individual
probabilities
P (A or B) = P(A) + P(B)
Addition Rule
A +B A - B = A
2
+ 2AB + B
2
Binomial Theorem
P generation F1 generation F2 generation
Mendel counted 705 purple-flowered
and 224 white-flowered plants in the
self-pollinated F2 generation
This resulted in a 3.1:1 ratio
89
These results held for the other
six traits of Mendels experiments
Mendel died in obscurity in 1884
He was convinced that his work
would be appreciated before long
by the whole world
90
Today, we recognize that Mendels
work demonstrated the principles of
the scientific method
An Overview of Mendelian Genetics
The Basics
Chromosomes occur in the nucleus of most sexually reproducing species
Each cell in a species contains a specific number of chromosomes
Each chromosome is a DNA molecule that houses many genes
Each gene codes for one or more proteins
Each protein controls the expression of a trait
This trait can be expressed externally or internally through metabolic
reactions
91
89
But any mathematician and physicist will tell you the oh point one makes such a big difference - Eric
90
Quoted also by USAD, this phrase comes from the 2008 edition of Biology, by Robert Brooker, et al.
91
Metabolic reactions are chemical processes that allow a cell to sustain life.
Make initial
observations
Formulate
testable and
falsifiable
hypotheses
Design
experiments
Statistically
analyze results
Draw data-
based
conclusions
Two main categories of chromosomes
Non-sex chromosomes (autosomes)
Chromosomes 1-22
Sex chromosome
Chromosome 23
Diploid cells contain paired chromosomes
These pairs are called homologous chromosomes
They contain corresponding genes at any given
location
However, the sequence of nucleotides does not
have to be identical
The two corresponding genes are alleles
Alleles determine the organisms
genotype
Alleles can be dominant or recessive
Capital letters represent dominant alleles
Lowercase letters represent recessive
alleles
92
Recessive alleles indicate malfunctions in the
coded protein
The physical trait controlled by that
protein is not expressed correctly
93
Alleles can also be homozygous or
heterozygous
Homozygous alleles have identical nucleotide sequences
Heterozygous alleles have different nucleotide sequences
Genotypes control the external expression of traits
These traits are known as phenotypes
If the chromosome contains at least one dominant allele, the organism will express a
dominant phenotype
If the chromosome has two recessive alleles, the organism will express a recessive
phenotype
94
Mendels Laws
According to the law of dominance, only dominant traits will appear in the F1 generation
According to the law of segregation, the pair of alleles that determine a specific genotype
separate and re-combine during fertilization
The law explains the process of meiosis
95
Mendel proposed that pairs of alleles segregate during gamete formation and
recombine during fertilization
92
If the genotype for pea color is given by the letter A, then a capital A would represent the dominant allele (yellow), while a
lowercase a would represent the recessive allele (green).
93
For example, albinos inherit a recessive allele that causes the skin-producing pigment melanin to be produced incorrectly. Ill explain
the molecular basis behind this statement in Section III.
94
If the letter a represented an allele, then AA would be a homozygous dominant genotype, Aa would be a heterozygous dominant
genotype, and aa would be a homozygous recessive genotype.
95
Meiosis was first observed in sea urchin eggs by the German biologist Oscar Hertwig in 1876.
Gamete Formation
Homologous chromosomes
separate during anaphase I
Alleles are split
Spem and egg cells become
haploid
For example, if a spermatogonia carries the genotype AA, then each sperm cell will
end up carrying an A
According to the law of independent
assortment, alleles for different traits segregate
independently
To test this concept, Mendel conducted a
dihybrid cross
96
of pea shape and color
From previous crosses, he knew that
round and yellow were dominant over
wrinkled and green, respectively
Mendel first crossed purebred plants
with round, yellow seeds and plants
with green, wrinkled seeds,
The entire F1 generation had
round and yellow seeds
This dihybrid cross resulted in an
approximate 9:3:3:1 phenotype ratio
The results convinced Mendel
that the alleles for the two
traits behaved independently
Mendel developed his three laws long
before modern understanding of genetics
His results disproved the theory of
blending inheritance
Genes, not traits, pass from parent to
offspring
Mendel also realized that alleles usually
come in two forms
97
However, mutations and
evolutionary adaptation allow
populations to develop multiple
form of alleles
He predicted that one allele would
dominate over the other
Dominant alleles produce
functioning proteins, while
recessive alleles do not
Proteins ultimately determine how traits are expressed
Mendel theorized that alleles for different traits sort into gametes independently
Coincidentally, all seven of Mendels selected traits were on different
chromosomes
The law of independent assortment does NOT hold true for linked genes
Linked genes are found in close proximity to each other
The 9:3:3:1 phenotype ratio does not apply for linked genes
96
Mendel crossed a maximum of three traits at the same time, or a trihybrid cross. Just try filling in that Punnett square.
97
This refers to the dominant and recessive forms of the allele.
Phenotype
Probability of
Occurrence
Yellow and Round
S
4

S
4
=
9
16
Green and Round
1
4

S
4
=
S
16
Yellow and Wrinkled
1
4

S
4
=
S
16
Green and Wrinkled
1
4

1
4
=
1
16
So What?
The Significance of Mendels Laws
Most human traits controlled by a single gene are harmless
However, many gene mutations can cause disease or death
At the 2003 conclusion of the Human Genome Project
98
, scientists agreed that all
diseases were linked to genetics
Understanding these diseases enables scientists to develop effective genetic
screening, diagnosis, and treatment
Cystic fibrosis affects one in 2,500 people of Northern or Central European descent
It is the most common deadly inherited disease in America that affects Caucasians
99
One in 400 African-Americans suffers from sickle cell anemia
It is the most common genetic disease in the United States
98
This multi-year project brought together the work of many scientists to map the human genome. We'll discuss it in Section III.
99
The mutation that causes cystic fibrosis primarily affects the lungs, pancreas, and exocrine glands.
Mendel developed
his three laws before
scientists knew that
genes exist
genes have multiple forms
chromosomes sort during meiosis
meiosis transforms diploid germ cells to haploid
gametes
genes are found in chromosomes
Earlobe attachment Widow's Peak Hitchhiker's Thumb
A gene that
codes for a
channel protein
on the cell
surface mutates
The protein
channel ceases
to function
Thick and sticky
mucus lines the
lungs and
digestive system
Lung infections
and digestive
problems result
All diseases have a genetic component, whether inherited or resulting from the body's
response to environmental stresses like viruses or toxins.
- The Human Genome Project
Tay-Sachs disease affects one in 3,500 Ashkenazi Jews
100
Cystic fibrosis, sickle cell anemia, and Tay-
Sachs are all homozygous recessive
diseases
Carriers are heterozygous for the
required gene
They do not have the disease but
can pass it on to their children
The ratio between normal
101
and
diseased individuals is 3:1
Genetic counselors seek to identify
parents genotypes before the parents
choose to have children
If the parents are carriers for a
genetic disease, the counselor can inform
them about the risk of passing the disease
onto their children
Diversity in the Pattern of Inheritance
Complete dominance occurs when the
heterozygote dominant phenotype matches the
homozygote dominant phenotype
102
When homozygous purple and white flowers
cross, they produce only purple offspring
Purple dominates over white
A homozygous and heterozygous dominant
purple flower will produce the same purple
flower offspring
On the other hand, incomplete dominance occurs
when no single trait is dominant or recessive
100
Ashkenazi Jews trace their ancestry to Central and Eastern Europe. 80% of Jews worldwide are Ashkenazi, including both DemiDec's
Editorial Director and Alpaca-in-Chief.
101
USAD uses normal to refer to individuals with a homozygous dominant or heterozygous genotype.
102
In other words, there are only two possible phenotypes (dominant and recessive). For example, complete dominance controls the
inheritance for human earlobe attachment. Offspring can have either free (dominant) or attached (recessive) earlobes, but not semi-
attached or partially attached earlobes.
A point
mutation occurs
A protein in the
hemoglobin
molecule folds
incorrectly
Red blood cells
form a sickle
rather than a
doughnut
Red blood cells
can no longer
squeeze
through
capillaries
Lack of oxygen
leads to
multiple organ
failure
Single gene
mutation alters
a lipid
metabolism
enzyme
Abnormal lipid
coats surround
brain cells
The brain
cannot transmit
neural impulses
correctly
Paralysis,
blindness, and
deafness can
result
The offsprings traits represent a blend of both parents
103
For example, when homozygous white and red flowers are crossed, they produce a
range of pink-colored offspring
In this way, incomplete dominance is similar to blending inheritance
Familial hypercholesterolemia (FH) passes through genes controlled by incomplete
dominance
FH results in abnormally high levels of blood cholesterol
Patients can have heart attacks in their twenties
One in 500 Americans carries this recessive allele
Cholesterol is a lipid molecule found in all cellular membranes
Gonadal cells use cholesterol to synthesize sex steroids
104
However, cholesterol is not blood-soluble
The liver must package it with a protein for transport to the rest of the body
This protein-cholesterol molecule is called low-density lipoprotein (LDL)
cholesterol
Each cell contains LDL receptors that recognize and process LDL
Once an LDL molecule reaches the cell, it clusters near coated pits and is
absorbed by the cell
If the LDL receptor gene mutates, the protein product cannot bind, group, and
absorb LDL for transport to cells
Instead, LDL remains in the bloodstream, clogging arteries
Hypercholesterolemia and cardiovascular disease result
Certain regions of the LDL molecule are responsible for the individual steps of LDL
absorption
Mutations in any part of the LDL receptor molecule will prevent LDL uptake
The protein product will be unable to bind, group, and absorb LDL for
transport to cells
In 1970, the Southwest Medical Center in Dallas admitted 14-year-old J.D.
His cholesterol level was over 800 mg/dl (milligrams per deciliter)
This level was four times higher than the cholesterol level of a typical young
adult
J.D.s family had a history of high cholesterol
However, not all family members had high cholesterol levels
Doctors suspected that a certain gene could directly control cholesterol levels
They discovered that no LDL cholesterol could enter J.D.s cells
J.D. died before he turned 30
FH indicates that mutations of a single gene can lead to a wide range of trait
expressions
Co-dominance occurs when neither allele dominates over the other
Both alleles will be expressed as a result
Co-dominance can control the inheritance of certain blood types
The surface of red-blood cells contains a membrane protein with two different forms of
sugar molecules attached to the proteins exterior
This extracellular part of the protein is known as glycoprotein
Doctors once thought that all human blood was identical
No one could explain why blood transfusions caused acute reactions and death
103
Just think of black and white mixing to produce different shades of grey.
104
Steroids do have a good use after all, I guess, much like mothballs and global warming - Eric
The Austrian scientist Karl Landsteiner
105
(1868-1943) discovered the ABO blood
typing system in 1900
Landsteiner noticed the red blood cells of
certain people clumped with the serum
106
of
others
This clumping is known as agglutination
Landsteiner developed the ABO blood typing
system based on the agglutination of different
types of blood
He won the 1930 Nobel Prize in Medicine
for this discovery
Blood compatibility depends on the relationship
between antigens and antibodies
The surface of red blood cells can contain A-
antigens, B-antigens, both, or neither
Blood also can contain anti-A antibodies, anti-
B antibodies, both, or neither
Anti-A antibodies will attack A antigen
Red blood cells with A antigen will clump
together, triggering cell destruction
This agglutination also occurs when
anti-B antibodies
107
and B antibodies
come into contact
In both cases, clumping will lead to
severe anemia
108
, oxygen deficiency,
and death
Four blood types lead to eight total possible genotypes
Blood
Type
Possible
Genotype
Antigens in
Red Blood Cell
Antibodies
in Serum
Can Donate
Blood To
Can Receive
Blood From
A AA or AO A Anti-B A, AB A, O
B BB or BO B Anti-A B, AB B, O
AB AB A and B None AB AB, O
O OO None
Anti-A and
Anti-B
A, B, AB, O
109
O
Type AB blood is an example of co-dominance
110
Both the A and B antigens are expressed on the red blood cell surface
When blood transfusions occur, blood types must be matched correctly
105
Check out his facial expression. I would not want to be running into this guy in a dark alleyway at night. - Eric
106
Serum refers to plasma (the liquid part of blood) without any clotting proteins
107
What's a pessimist's blood type? B- . Josephine
108
Individuals with anemia have a lower-than-normal red blood cell count
109
This is why people with type O blood are known as universal donors
110
In ABO blood typing, A and B both dominate over O. In order to have type O blood, an individual must inherit two recessive (O)
alleles.
Anti-A
antibodies
A antigen
A patient who receives incompatible blood may suffer transfusion shock or death
Courts used ABO blood typing to identify specific phenotypes in paternity legal cases
DNA testing superseded this technique in 1984
The famous 1943 Barry/Chaplin case involved blood testing
Joan Barry accused actor Charlie Chaplin
111
of fathering her child
Blood tests excluded Chaplin as the father
The court refused to accept this evidence
Chaplin was forced to pay child support
Public outrage at this trial led to new laws
allowing blood tests as court evidence
The Rh factor is also an important surface antigen
It was first identified in rhesus monkeys
This factor determines the + or - sign after
the ABO blood type
The + factor dominates over the - factor
Individuals that are Rh- receive one - allele
from each parent
Mismatch between antigens can endanger a
pregnancy
If the mother is Rh- and father Rh+, the baby will have a heterozygous +/- genotype
However, the mother has a -/- genotype
During pregnancy, the uterus is an immunologically privileged site
Even though half the babys alleles are foreign, the mothers immune system
will not attack the baby
However, the placenta pulls away from the endometrium
112
during labor and
delivery
At that moment, the babys red blood cells encounter the mothers immune
system
The immune system produces anti-Rh+ antibodies
If the mother carries another Rh+ baby, the mothers anti-Rh+ antibodies will
attack the Rh+ molecule on the fetuss red blood cells
This reaction can kill the fetus
Blood tests can determine the presence of anti-Rh+ antibodies
If they are present, the mother can receive an injection of anti-Rh antibodies
to prevent fetal death
113
Pleiotropy occurs when a single gene contributes to multiple, unrelated traits
Mendel had identified examples of pleiotropy in his pea plant experiments
He noticed that all plants with colored seed coats had colored flowers and leaf
petioles
114
At the same time, plants with white seed coats had white flowers and petioles
Mendel did not understand this result
One example of pleiotropy is albinism
Pigment molecules produce color in humans
111
Check out Chaplin's 100-year-old pratfalls: http://charliechaplin2013
112
The endometrium is the inner membrane of the uterus.
113
One (contested) theory proposes that Henry VIII's wife Anne Boleyn (and maybe even his first wife Catherine of Aragon) was Rh-,
leading to a series of miscarriages and stillbirthsand, consequently, the English Reformation.
114
The petiole is the stalk attaching the leaf blade to the stem.
The body requires certain enzymes to produce each pigment molecule
If the gene that codes for an enzyme fails, then the body does not produce any
pigment molecules
Albinos suffer from a defective melanin
115
-producing enzyme
This single gene mutation affects pigment production in all parts of the body
Pleiotropy also controls the inheritance of the gene responsible for sickle cell anemia
Polygenic inheritance occurs when multiple genes control a single phenotype
The phenotype is often quantitative
In other words, it appears as a range rather than
either/ or
Traits controlled by polygenic inheritance include
height, weight, and skin color
People are not either "short" or "tall"
Height appears in a range of continuous
variations
Scientists have identified over 180 genes controlling
human height
Environmental influences such as nutrition and
hormone levels can also affect height
Polygenic inheritance also affects the genetic factors for
breast cancer
A women has a higher risk for breast cancer if more
than one close relative has had breast cancer at a young
age
116
The two mutated genes BRCA1 and BRCA2 increase
the risk for breast and ovarian cancer
However, a carrier of these genes will not necessarily develop cancer
Fewer than 10% of breast cancer cases arise from BRCA1 or BRCA2
Less than one percent of the general population carry either of these genes
117118
The combination of lifestyle factors and small genetic mutations are the
fundamental cause of most cancer cases
William Bateson, Reginald Punnett and Edith Rebecca Saunders collaborated to study
linked genes
They crossed purebred flower color and pollen grain shape in sweet peas
Purple flowers (P) dominate over red flowers (p)
Long grains (L) dominate round grains (l)
As expected, the F1 generation consisted of purple flowers and long pollen grains
However, the F2 generation produced strange results
The phenotype ratio was 15.6:1:1.4:4.5 instead of 9:3:3:1
119
Many more plants than expected developed purple flowers and long pollen grains
115
Recall that melanin is a natural pigment that gives color to hair, skin, and the iris.
116
USAD does not define young, but many cancer experts recommend that women who carry the BRCA1 or BRCA2 gene begin
clinical breast examinations at ages 25 to 35.
117
According to new estimates from the National Cancer Institute, 55-65% of BRCA1 and 45% of BRCA2 carriers will develop breast
cancer by age 70, compared to 12% of women in the general population. For more, check out http://tinyurl.com/gq6lc
118
It appears nature holds a grudge against Ashkenazi Jews, as members of this ethnic group have a higher prevalence of BRCA1 and
BRCA2 genes than people in the general population. Recall that Ashkenazi Jews are also prone to Tay-Sachs disease.
119
Remember that linked genes do not follow the law of independent assortment.
Plants with red flowers and round pollen grains were three times more common
than Mendels laws had predicted
Bateson, Punnett, and Saunders hypothesized that the flower color and pollen grain
alleles were linked
Thomas Hunt Morgan proved the existence of linked genes
Morgan did not accept Mendelian genetics and Darwins theory of natural selection
He induced fruit flies to produce a new species in three ways
Morgan also raised fruit flies in the dark to see if their eyes would eventually disappear
He noticed one morning that one male fly had white eyes instead of red
He bred the white-eyed male with the red-eyed females
The F1 generation was entirely red-eyed
This result showed that red was
dominant to white
However, the F2 generation did not
generate the expected 3:1 ratio between
red and white
Morgan theorized that the inheritance pattern
of X chromosomes and autosomes differed
He believed that white eye color in fruit
flies was linked to an X chromosome mutation
To verify this hypothesis, he crossed white-eyed males with the heterozygous F1
females
As Mendelian genetics predicted, some of the offspring were white-eyed
females
Morgans studies confirmed the physical presence of alleles in chromosomes
He won the 1933 Nobel Prize for his studies of mutations
Morgan and his student Alfred Sturtevant argued that genes were arranged linearly on
chromosomes
Linked genes are more likely to cross over if they are far apart
Likewise, neighboring genes are unlikely to cross over
The distance between two genes is known as a genetic map unit
Sturtevant analyzed recombination data from different crosses to predict the relative
position of genes
He successfully produced the first linkage map by studying Drosophila
Numerous scientists built on Morgan and Sturtevant's studies to map the genes of
other species
Reginald Punnett identified
linkage groups in pea plants
Many factors determine an
offsprings sex
As in humans, fruit fly sex
chromosomes determine
an organisms gender
Fruit flies will be female if they
have two X chromosomes
X-rays Chemicals Temperature
Phenotype Number
White eyed males 782
Red-eyed males 1011
White-eyed females 0
Red-eyed females 2459
Factors that
influence an
embryo's gender
Genetics
Temperature Social Structure
Environmental
Chemicals
Fruit flies will be male if they have only one X chromosome
The Y chromosome does not affect the fruit flys sex
120
In humans, the Y chromosome ensures that the baby will be male
A gene known as SRY (sex reversal Y) controls human male traits
This gene occurs on the Y chromosome
Before sexual differentiation occurs, the embryo has a pair of gonads and both male
and female reproductive tracts
These organs co-exist during the first two months of gestation
The SRY turns on genes that signal the gonad to become testes rather than ovaries
Without a Y chromosome, ovaries will develop
Female sex hormones promote the development of the female reproductive system
while ignoring the male reproductive system
In humans, several traits link to sex chromosomes
Colorblindness is one such trait
John Dalton first described this disorder in 1794
The opsin gene occurs on numerous chromosomes
This gene and its variants allow the eye to detect different wavelengths of light
Mutation of this gene causes color blindness
This defective gene is found on the X chromosome
The most common form of colorblindness is red-green
Individuals suffering from red-green colorblindness lack red, green, or both
pigment molecules needed for color vision
Colorblind females must inherit a faulty X chromosome from both parents
Colorblind males only need one faulty X chromosome
Most of the Y chromosomes genes control
sex determination and male fertility
The Y chromosome is significantly smaller
than the X chromosome
It contains fewer than 200 genes
Traits determined by the Y-chromosome
will pass down through the male family
line
Thus, the Y chromosome can be used to track male
lineage
The pattern of inheritance in mitochondria and chloroplasts
do not follow Mendels laws
Mitochondrial DNA is only inherited from the mother in
humans and most mammals
Male mitochondrial DNA never enters the oocyte
during fertilization
Thus, mitochondrial DNA can be used to trace the
female lineage
Punnett Squares
Geneticists use Punnett squares to find the probability that
an offspring has a particular genotype
The parents genotypes must be known
First, draw a four-box square
120
Unlike humans, fruit flies can survive with an XXY set of sex chromosomes.
Y chromosome
reveals male
lineage
Mitochondrial DNA
reveals female
lineage
Then, write the genotype of one parent at the top of the square
Place one letter above each smaller box
Write the genotype of the second parent on the left side of the square
Place one letter next to each smaller vertical box
Next, write the letter from the side of the square in each box
To its right, write the letter from the top of the square
These boxes represent the probability of each genotype for four offspring
When conducting a dihybrid cross, use a 16-square box
The remainder of the process is the same as for a monohybrid cross
Genetic Testing
Genetic counselors use a pedigree to identify genetic disease carriers
This diagram allows them to determine the probability that children will inherit a
certain trait
Doctors can perform chromosomal analysis on babies in utero
121
They perform most of these tests on mothers older than 35
122
The odds of having a baby with a chromosomal abnormality increase dramatically
past this age
Doctors perform chromosomal analysis through karyotyping
This test involves removing fetal cells from the womb
121
This Latin phrase means in the womb.
122
Dont worry, guys: your risk of fathering a child with chromosomal abnormality also increases with age. Gender equality FTW.
Josephine
There are two main ways to extract these cells
In amniocentesis, doctors insert a long needle into the fluid compartment within
the fetal membrane
In chorionic villus sampling (CVS), doctors remove a piece of fetal membrane
CVS is the more invasive method of the two
Genetic testing can even occur before the embryo attaches to the uterine wall
In vitro fertilization produces a zygote outside the body
Doctors can isolate, remove, and test
one cell in an eight-cell embryo
The other seven cells are then inserted
into the mother to develop normally
123
If genetic disorders are diagnosed early,
treatment can begin at birth
The discovery of fetal cells circulating in the
mothers blood may lead to simpler and more
accurate genetic testing
However, new genetic
technologies lead to ethical
and moral implications
124
123
This process is known as preimplantation genetic diagnosis (PGD, or embryo screening. If doctors detect an embryonic cell with a
disease-causing mutation, they can eliminate that cell and re-implant the normal cells in the mothers uterus. For more information,
check out http://tinyurl.com/lrlyyvz.
124
We'll get into this when I discuss the Human Genome Project in Section III.
Possible Embryonic
Genetic Tests
Chromosomal analysis
Biochemical testing DNA testing
MOLECULAR GENETICS
The Modern Synthesis of Evolution and Genetics
Charles Darwins Theory of Evolution
Charles Darwin travelled to the Galapagos
Islands during his voyage aboard the H.M.S.
Beagle from 1831 to 1836.
He observed many species on the islands
He paid particular attention to 13
species of finches
His travels and observations led him to develop
the theory of evolution
Darwins theory contained three main parts
Each generation produces more
offspring than the environment can
sustain
All individuals in a species have different
heritable traits
Only individuals with favorable traits
survive and reproduce
In 1859, Darwin published On the Origin of Species by Means of Natural Selection
The scientific community greeted Darwins ideas with both acceptance and controversy
Theory of
evolution
Descent with
modification
Excess offspring in each
generation
Natural selection of
favorable variations
Early 20
th
century scientists made tremendous breakthroughs
in the study of genetics and cellular reproduction, bringing
together Mendelian genetics and Darwinian evolution
through modern evolutionary synthesis. In the second half of
the 20
th
century, scientists turned to studying DNA, RNA,
and protein synthesis. The Human Genome Project and
modern genetic techniques have had widespread implications
on our society, with applications in law enforcement,
agriculture, and the diagnosis and treatment of diseases.
According to the USAD outline, 17-18
questions (35%) should come from Section III.
18 questions (36%) come from Section III on
the USAD Science Practice Test.
Section III covers pgs. 50-81 of the USAD
Science Resource Guide.
At that time, few scientists understood how traits were passed from one generation
to the next
125
Darwin could not explain the genetics behind evolution
Darwin also could not reconcile his theory with other ideas about inheritance
his ideas challenged three main theories
of the nineteenth century
The 2000-year old Greek idea of
pangenesis still held weight
Blending inheritance continued to
serve as a hypothetical model
Jean-Baptiste Lamarck
hypothesized that individuals inherit
traits their parents had acquired
during their lifetime
126
The Post-Darwin Era
By the end of Darwin's lifetime, scientists were cracking
the mystery of inheritance
Cytologist Walther Flemming described the process of
mitosis in 1878
In the 1880s, developmental biologist August
Weismann linked meiosis, sexual reproduction, and
genetic variation
Weismann hypothesized that crossing over during
meiosis fostered genetic variability and natural
selection
He tested Lamarcks theory of acquired traits
In one experiment, Weismann removed the
tails
127
of mice
The resulting five generations still had tails
Weismann concluded that somatic traits
128
could not be passed from parent to offspring
Based on his experimental results, Weismann
proposed the germ plasm theory of heredity
He posited that all germ cells are made of germ plasm
Germ plasm is the hereditary material that parents pass on to offspring
Each organism has two distinct types of cells that separate early in embryonic
development
Somatic cells develop independently of germ cells
129
Germ cells are part of the germ line
130
125
Darwin published On the Origin of Species seven years before Mendel even published the results of his pea plant experiments.
126
Epigenetics has partly redeemed Lamarck's hypothesis, which he'd be glad to hear if he hadn't been dead for over a century.
127
Mice all over the world remember him as their very own Jack the Ripper.
128
Somatic simply means of the body. In this context it refers to externally expressed traits
129
But germ cells can give rise to somatic cells (remember stem cells in section 1?)
130
This is the sequence of cells that contain the genetic material to be passed down to offspring.
Pangenesis
Blending
Inheritance
Lamarck's
hypothesis
Weismanns radical theory rejected the three previous theories of pangenesis,
blending inheritance, and Lamarcks theory of acquired inheritance
131
By the early 20
th
century, scientists realized that they would need to analyze the genetic
composition of entire populations to understand evolution
Darwin recognized that natural selection acts on populations rather than individuals
However, he could not study entire species
132
on the islands
Many scientists felt that field observations were insufficient to study entire populations
Instead, they favored rigorously controlled laboratory experiments
These scientists included Thomas Morgan and Hugo De Vries
133
Through his fruit fly studies, Morgan developed the chromosome theory of
inheritance
Morgan had noticed that almost all traits mutated over time
He experimentally proved the chromosome theory of inheritance
134
Modified, this theory formed the backbone of both Mendelian genetics and the
Darwinian idea of descent with modification
Population geneticists made observations that reflected Mendel's findings
135
Both Mendel and population geneticists experimented with heritable variations
Mendels controlled experiment environment replicated the same conditions as a
non-evolving population
136
Mendels ideal 3:1 phenotype and 1:2:1 genotype ratio will always hold true in this
type of population
In 1902, Udny Yule observed that the sum of
the two allele frequencies always equals 1
This equality only holds true for a non-
evolving population
Take a situation where purebred
purple (PP) and white (pp) flowers are
crossed
We then cross the F1 generation (Pp Pp)
First, we add the total number of alleles
(1uu 2) + (2uu 1) = 4uu P alleles
(2uu 1) + (1uu 2) = 4uu p alleles
The frequency of the P allele is
4uu
8uu
= u.S
The frequency of the p allele is
4uu
8uu
= u.S
131
Though Weismanns theory has been modified over time, its premise of the continuity of hereditary material is the basis of the
modern understanding ofphysical inheritance. (Encyclopedia Britannica)
132
The Beagle anchored in the Galapagos for just over a month, not enough time to chase down entire islands worth of finches.
133
Remember: Thomas Morgan proved gene linkage through fruit flies and Hugo de Vries re-discovered Mendels work in 1900.
134
USAD implies that Morgan developed this theory, but you may recall from section I that Walter Sutton and Theodor Boveri had first
identified chromosomes as the carriers of genetic material in 1902-03.
135
Remember that Mendel experimented on pea plants without any knowledge of Darwins theory of evolution.
136
These conditions are also identical to the conditions for Hardy-Weinberg equilibrium.
Large population
Negligible
physical
mutations
No migration or
random events
Equal
reproductive
success
Random mating
Genotype Results Genotype
Frequency
100 purebred PP 0.25
200 heterozygous Pp 0.5
100 purebred pp 0.25
Phenotype Results
300 purple
100 white
We can then sum the two allele frequencies
u.S + u.S = 1
In 1903, William Castle theorized that a
populations allele frequencies would remain
stable without natural selection
This insight into evolving populations led to
the development of the Hardy-Weinberg
theorem
The Hardy-Weinberg theorem states that a
populations allele frequencies will not change
over time if equilibrium is reached
Mathematician G.H. Hardy and German
physician Wilhelm Weinberg proposed this
theorem in 1908
If any of these five conditions for
equilibrium are unmet, the population's
allele frequency will change over time
The population undergoes microevolution
For example, a population may have two alleles,
p and q, for a gene
In a purebred p population, q = u, and vice
versa
In other words, in a purebred
population, the entire population
expresses only the dominant or
recessive trait
An populations genotype frequency can be
represented by the equation (p + q)
2
1
This statement shows that the genotype is
the combination of one allele from each
parent
The Hardy-Weinberg equation offers another
way to express genotype frequency
This equation is written as p
2
+ 2pq + q
2
= 1
1S7
Term Indicates
p
2
the frequency of the homozygous dominant phenotype
2pq
the frequency of the heterozygous dominant phenotype
q
2
the frequency of the homozygous recessive phenotype
The Union of Genetics and Evolution
By the 1930s and 1940s, scientists agreed that Mendelian genetics and evolution by natural
selection could coexist
This agreement created the modern synthesis of evolution
In the early 20
th
century, scientists filled in key gaps between evolution and genetics
137
Look familiar? The Hardy-Weinberg equation is identical to the equation Mendel used to find the genotype ratio of his pea plants.
C
o
n
d
i
t
i
o
n
s

f
o
r

H
a
r
d
y
-
W
e
i
n
b
e
r
g

e
q
u
i
l
i
b
r
i
u
m
Large population
No new mutations
Random mating
No natural selection
No migration
British geneticist R.A. Fisher was trained in mathematics and biometry
138
This expertise separated him from Mendel and Darwin
Fisher applied statistics to analyze genetic variations in a population
This research helped him write a groundbreaking 1918 paper explaining the inheritance
of quantitative traits
American plant geneticist G. Ledyard Stebbins studied the formation of new plant species
He discovered sympatric speciation
139
In this process, new species form through either meiotic errors or polyploidy
140
Many flowering plants undergo this method of speciation
Nearly a century earlier, Darwin had had proposed the idea of allopatric speciation
In this process, a new species develops when a population is reproductively isolated
For example, different species of finches evolved on the isolated islands of the
Galapagos
Theodosius Dobzhansky published Genetics and the Origin of Species in 1937.
Dobzhansky worked as an evolutionary biologist under Thomas Morgan in the 1930s
Evolutionary biologist Ernst Mayr proposed the biological species concept
For Mayr, a species is a group of organisms that can naturally interbreed
In The Evolutionary Synthesis, Mayr argued for the development of a modern synthesis
of evolution
He also explained that variation and selection lead to evolutionary change in species
Together, Fisher, Stebbins, Dobzhansky, and Mayr built on Darwins theory of evolution
138
Biometry refers to the application of statistics to biology.
139
This process involves the creation of new species from an ancestral species while both inhabit the same geographic region
140
Polyploid cells contain more than one pair of homologous chromosomes. Most cells are diploid, meaning they have just one pair of
homologous chromosomes.
paleontology embryology
population genetics biogeography
Fields of major discovery in the
early 20th century
Dobshansky helped
shape the modern
synthesis of evolution
defined evolution as a change in allele frequency within a
gene pool
suggested that mutation was the main force behind
evolution by natural selection
Produce
both male
and female
offspring
Offspring
are viable
and fertile
Species
All individuals have different traits
The variability in these traits come from mutation
Mutation leads to the creation of new genes, alleles, and phenotypes
During gamete formation, chromosomes segregate and sort independently
This sorting produces new genetic combinations
Parents pass on their intact genes to their offspring
This process occurs independently for each gene
Most generations will produce more offspring that can survive
Individuals with traits suited to their environment will survive and reproduce
Microevolution will eventually lead to speciation, or macroevolution
Evolution can occur for numerous reasons
141
Genetic Material
The Discovery of DNA
Despite the growing acceptance of Mendels work, most nineteenth-century scientists still
believed that genetic material passed from parent to offspring via proteins
The nucleus contains many proteins
The many possible combinations of 20 amino acids could account for many traits
However, discoveries in the late 19
th
and early 20
th
centuries pointed to DNA as the
genetic material
Swiss biochemist Friedrich Miescher discovered nuclein in 1869
This molecule is a mixture of nucleic acids and chromosomal proteins
Miescher was studying white blood cell proteins from the pus of infected human patients
He noticed that a substance from the white blood cell nuclei had different chemical
properties than proteins did
Enzymes that normally broke down proteins did not affect this substance
He named this substance nuclein
Between 1885 and 1901, German chemist Albrecht Kossel studied nuclein
He discovered that nucleic acid consisted of four nitrogenous bases
141
Genetic drift occurs when a populations allele frequency randomly changes
Causes of
Evolution
Genetic Drift
Population
migration
Natural selection
Non-random
mating
Adenine Cytosine
Thymine Guanine
Nitrogenous Bases in
Nucleic Acid
Adenine and guanine have a double-ring structure
Cytosine and thymine have a single-ring structure
Kossel won the 1910 Nobel Prize for this discovery
Russian-American biochemist Phoebus Levene discovered the monosaccharide
deoxyribose
142
Levene had worked closely with Kossel
In 1919, Levene concluded that DNA is a one large polynucleotide that consists of a
long chain of mononucleotides
It has three major components
143
Levene incorrectly believed the four nitrogenous bases appeared in equal proportions
His faulty belief became known as the tetranucleotide hypothesis
It dominated scientific thinking until the 1950s
This hypothesis convinced scientists that DNA structure was too simple to hold
genetic material
Studying Streptococcus pneumoniae bacterium led to further breakthroughs in discovering
the genetic material
This bacterium caused most of the deaths during the Spanish influenza pandemic
The pandemic began in 1918 and killed between 50 to 100 million people
worldwide
Often, bacterial infections finished off influenza victims with weakened immune
systems
Scientists knew that different strains of S. pneumoniae had different pneumonia-
causing potencies
144
English microbiologist Frederick Griffith studied two strains of the bacterium
The virulent S-strain contained a smooth polysaccharide capsule
This capsule protected the bacteria from the bodys immune system
The non-virulent R-strain lacked this capsule
Griffith inject mice with different strains and observed surprising results
Griffith theorized that the S-strain transferred heat resistance to the R-strain
The R-strain then became virulent
In 1928, he named this transferred substance the transforming principle
145
142
A nucleic acid composed of deoxyribose = deoxyribonucleic acid
143
Pentose refers to a sugar molecule with five carbon atoms. "Pent" means "five," and "-ose" refers to sugar. (Think "fructose,"
"sucrose," and my personal favorite, "glucose."
144
This is also known as a virulent property
145
To clear up any confusion, the transforming principle refers to DNA.
Components of
DNA
Phosphate
Pentose sugar
Four nitrogenous
bases
Michael Dawson and Richard
Sia of Columbia University
observed Griffiths transforming
principle within test tubes
146
Using test tubes made the
process of isolating and
chemically analyzing the
principle simpler, better
controlled, and more reliable
Scientists could then isolate
and chemically analyze the
transforming material
Biochemist Oswald Avery of
Rockefeller University chemically
analyzed S. pneumoniae
He concentrated on the
carbohydrate section of the
bacteria capsule
The virulent S-strain had
this capsule, while the non-virulent R-strain did
not
Avery believed that the carbohydrates caused
an immune response
The capsules polysaccharides trigged an
immune response
The patients body then produced
antibacterial antibodies
In a 1933 work, Avery argued that the capsule
polysaccharides stimulated antibody production in
infected individuals
The polysaccharides essentially served as
antigens
Avery aimed to identify the mysterious transforming
principle
First, he sought to prove that the transforming
principle was biologically active
He created an assay
147
to calculate the success
of transforming the R-strain into the S-strain
This procedure also determined if different
concentrations of the R-strain extract
would inhibit the cells growth
When he observed this transformation, Avery made several important observations
The transforming activity was very strong
The level of activity decreased as he diluted the mixture of S-strain extract and non-
virulent bacteria
146
Saving those poor little mice from a slow and painful death, I suppose
147
An assay is a scientific procedure used to determine the level of a substance in a cell or other organic sample
However, the transforming activity was still present even when only 0.01
microgram
148
of substance was added to the R-strain
Next, Avery needed to identify the chemical properties of the transforming principle
Avery noticed that the transforming principle had the physical properties of a
nucleic acid
In 1944, Avery and his colleagues Colin MacLeod and Maclyn McCarty described
the purified transforming principle as a viscous and slightly cloudy solution
They noticed that the principle formed fibrous strands when mixed with
ethanol
149
The three scientists also observed that the transforming principle had high levels
of phosphorus
Phosphorus is found in DNA, but not proteins
The transforming principle also absorbed light in the same manner as DNA
Finally, Avery observed that enzymes that normally digested proteins, carbohydrates,
and RNA could not destroy the transforming principle
DNAse
150
, however, could break down the substances structure and activity
The stronger the dosage of DNAse, the more dramatic the inactivation of the
transforming principle
Avery concluded that DNA was the
genetic material
The scientific did not receive this
conclusion happily
Most scientists still believed
that protein carried hereditary
material
In 1952, Alfred Hershey and Martha
Chase studied the process by which
bacteriophages
151
infected bacterium
They sought to identify the molecule
that the bacteriophage transferred to
the bacterium
Bacteriophages reproduce by
injecting their material into the
virus
The viruss genetic material
embeds itself into the host
chromosome
When the bacteria reproduces,
the virus does so as well
Hershey and Chase decided to use E.
coli as the target bacteria
They injected radioactive P
S2
anu S
SS
(phosphorus and sulfur) as tracers into the
bacteriophages
148
In other words, one hundred billionth of one gram
149
You can do this at home! Heres the experiment: http://tinyurl.com/lk6nvxj
150
This is an enzyme that digests DNA
151
A bacteriophage is a virus that infects and replicates within bacteria
If phosphate appeared in the bacterium, then the bacteriophage had transferred
DNA as its genetic material into E. coli
If sulfur appeared, then the bacteriophage had transferred protein rather than DNA
After infecting the E. coli bacteria, the two scientists forcibly separated the
bacteriophage and bacteria
They sheared off the virus from the protein with a high-speed kitchen
blender
152153
Then, they separated the virus and bacteria through centrifugation
154
The sulfur remained in the bacteriophage
The phosphorus entered the bacteria
The experiment showed that DNA was the
genetic material transferred between the
bacteriophage and bacterium
However, the scientific world did not realize the
importance of this finding until 1952
Hershey finally received recognition when he
shared the 1969 Nobel Prize with two other
scientists
155
In the 1940s, Edwin Chargaff compared the DNA
composition of numerous prokaryotes and
eukaryotes
He used paper chromatography
156
to organize
DNA molecules based on chemical properties
and size
Then, Chargaff used enzymes to digest the DNA
of different organisms
He noticed that different organisms had
different DNA compositions
The ratio of the four nucleotides was unequal
157
However, Chargaff observed a consistent 1:1 ratio of adenine to thymine and
cytosine to guanine
He suggested that adenine paired with thymine and cytosine paired with guanine
This pairing is known as Chargaffs rule
Chargaffs discovery of base pairing was critical in the construction of the DNA
model
152
Note to self: do not try this experiment at home - Eric
153
Mmmm, bacteria smoothies.
154
In centrifugation, scientists spin a sample at high speeds to separate its components
155
Apparently the absence of a Y-chromosome disqualified Martha Chase from winning the Nobel Prize - Josephine
156
Scientists use chromatography to separate mixtures into their individual components. For more information, check out this excellent
link: http://tinyurl.com/yketr99
157
Remember that Levene proposed that DNA had an equal proportion of the four nucleotides in his tetranucleotide hypothesis
Adenine
(% of DNA)
Thymine
(% of DNA)
Cytosine
(% of DNA)
Guanine
(% of DNA)
Humans 20 20 30 30
Dogs 22 22 28 28
James Watson and Francis Crick developed the
double helix model of DNA in 1953
This model proposes that deoxyribose and
phosphate form the backbone of DNA strands
These strands hold the complementary
nitrogenous bases together
They hired scientist Rosalind Franklin to study
and improve X-ray crystallography
In this technique, X-rays produce a shadow
image of a molecule
The image reveals the size, shape, and
spatial relationship of the molecules
internal structure
Franklin successfully produced a 3-D double-
stranded twisted ladder image
Sugar and phosphate seemed to form
the backbone of the DNA strands
Nitrogenous bases clustered near the
center of the two strands
Watson and Crick also used a molecular
model building technique developed by
Nobel laureate
158
Linus Pauling
159
Nature
160
published their paper on DNA
structure in 1953
That same year, the journal also
published Maurice Wilkins paper on
X-ray crystallography
Wilkins was one of Franklins
colleagues
Watson, Crick, and Wilkins shared the
1962 Nobel Prize in Physiology or
Medicine
The Organization and Replication of DNA
Typical prokaryotic DNA contains one million nucleotides within three thousand genes
Prokaryotes only carry one copy of each gene
They contain little non-essential genetic material
In comparison, eukaryotic DNA is complex
The DNA molecules are wrapped around histone
161
proteins
162
Exons are regions of the DNA molecule that actively code for proteins
158
Oh, this old thing? Pauling won the Nobel Prize 1954 for his work on chemical bonds. Going for a matched set, he won the Peace
Prize in 1963 for his efforts at opposing nuclear war.
159
Hes also the reason your mom made you take vitamins you probably didnt need: http://tinyurl.com/lhm9re2
160
Nature is the People magazine of scientists: anyone whos anyone is in it.
161
Histones are protein molecules that help condense DNA so it can fit inside the nucleus. Since histones are positively charged and
DNA is negatively charged, DNA can easily wrap around the histone.
162
Each human cell has 1.8 meters of DNA. If all of the DNA in a single human adult were unwound, it would stretch from the Earth to
the Sun and back 70 times.
[We have awarded Crick, Watson,
and Wilkins the Nobel Prize] for
their discoveries concerning the
molecular structure of nucleic acid
and its significance for information
transfer in living material.
- The Nobel Prize Committee
In contrast, regions of noncoding DNA are known as introns
Introns and exons form messenger RNA molecules
The genetic code consists of four letters
A group of three letters is a codon
Each codon codes for a unique amino acid
tRNA transports this amino acid to ribosomes
Once in the ribosome, the amino acid joins proteins
The letters of the genetic code can form 64 possible codons
However, protein synthesis uses just 20 naturally occurring amino acids
Multiple codons can code for a single amino acid
However, UGG only codes for trytophan
Three codons act as stop codons
These codons halt the process of protein synthesis
AUG acts as a start codon
This codon initiates the process of protein synthesis
It also codes for the amino acid methionine
Watson and Crick realized that the structure and function of DNA are closely related
They suspected that DNAs base pairing pattern provided clues to the process of
replicating genetic material
In the 1950s, scientists proposed three possible models for DNA replication
Watson and Crick favored the
semiconservative model
In this model, the original DNA
strands unzip
Then, each strand serves as a
template for the replication of a
new strand
The new DNA molecule then zips
itself back together
This process occurs every time
DNA replicates
Molecular biologists Matthew Meselson
and Franklin Stahl confirmed this model
A T G C
The new DNA molecule consists of two new strands Conservative replication
The new DNA molecule consists of one old and one new strand Semi-conservative replication
The new DNA moelcule consists of a mix of old and new strands Dispersive replication
UAA UAG UAG
They studied the DNA replication process in detail
Before DNA replication, they tagged the individual components of DNA with
nitrogen isotopes N
14
anu N
1S
Molecules that synthesized with N
1S
would be heavier than molecules that
synthesized with N
14
N
1S
has one more neutron than N
14
Meselson and Stahl chose E. coli bacteria as their test subject
They grew E. coli near N
1S
for many generations
Eventually, all the nitrogen in the bacteria was in the form of N
1S
The two scientists repeated this process with N
14
Then, they extracted the DNA from the bacteria and analyzed the DNA samples
The centrifuge stratified the DNA molecules by density
This stratification occurred every 20 minutes
After every DNA replication, around 50% of the N
1S
molecules had been transferred
into the new DNA molecule
This result confirmed the semi-conservative model of DNA replication
Many enzymes participate in DNA replication
Helicase unzips
the parent DNA
molecule
DNA primase
synthesizes
an RNA
primase
enzyme
The RNA
primase
attaches to the
end of the DNA
strand
DNA polymerase
synthesizes the
complementary
strand of DNA
DNa
fragments
replace the
RNA primase
DNA ligase
"rezips" the new
DNA fragment to
the parent
Acts as an unzipper
Initiates DNA replication by unwinding the double helix
Forms a replication fork and bubble
Helicase
Synthesizes new RNA primers
Atttaches these RNA primers to the replicating strands of DNA
Primase
Serves as builder and proofreader
Continually adds complementary nucleotides to the daugher
DNA moelcule
DNA polymerase
Acts as an editor
Removes incorrect nucleotides
Nuclease
Acts as a zipper
Fills in holes in the new DNA molecule backbone with
phosphate
DNA ligase
Prokaryotes simultaneously produce new DNA strands on both sides of the parent strand
Eukaryotes have multiple DNA strands
Thus, DNA replication can occur at multiple places simultaneously
Mutations
Mutations occur when DNA fails to replicate accurately
They occur randomly during the replication process
Environmental and metabolic factors can increase the probability of a mutation
Mistakes and faulty repairs lead to damaged DNA and altered genes
For example, if an erroneous amino acid is added, the protein may cease to function
Most mutations are inconsequential
They only affect the non-coding section of DNA
Some mutations, however, can cause cancer or other diseases
Other mutations offer benefits
Certain individuals have a mutation that prevent HIV from binding to T lymphocytes
These people are resistant to AIDS
Point mutations are the most common type of mutation
This mutation occurs when a single nucleotide is affected in one of four ways
Scientists classify mutations based on their effect on the amino acid sequence: silent,
missense, nonsense, and frameshift
163
An example of a silent mutation involves the amino acid
proline
Four different codons code for proline
This duplication means that, if the final letter of any
of the four possible codon changes, the codon will
still code for proline
163
No one talks about the divergent. Josephine
added substituted deleted translocated
Silent
One nucleotide
substitutes for
another
The codon codes
for the same
amino acid
Missense
Nucleotide
substitution
changes the
coded amino acid
Nonsense
Nucleotide
substitution
produce a stop
codon
Frameshift
One nucleotide is
added or deleted
All subsequent
codons are
affected
Proline
CCC
CCU
CCG
CCA
Ribonucleic Acid (RNA)
Stanford biochemist Arthur Kornberg and his NYU mentor Severo Ochoa worked on RNA
In 1959, they shared the Nobel Prize in Physiology or Medicine
The prize acknowledged their work on RNA synthesis
164
Kornbergs son Roger won
the 2006 Nobel Prize in
Chemistry for his study of
transcription
165
RNA and DNA have several key
differences
RNA is a large molecule made
up of nucleotides
This molecule is known as a
polymer
It comprises phosphate, ribose, and four nitrogenous bases
It comes in three major types
The eukaryotic nucleus produces all three types of RNA
RNA can form two strands if necessary
tRNA is especially likely to undergo this transformation
RNA and DNA follow identical base-pairing rules
Adenine pairs with uracil
166
Cytosine pairs with guanine
Hydrogen bonds connect nitrogenous bases in both DNA and RNA
RNA stores information for protein synthesis
In eukaryotes, DNA always remains in the nucleus
It condenses during cell division
DNA disperses during gene expression
Transcription occurs when mRNA transfers the DNA genetic code to ribosomes
167
Eukaryotic and prokaryotic transcription are almost identical
However, transcription occurs in the nucleus in eukaryotes
164
Kornberg was quite the accomplished scientist. He was the first to isolate DNA polymerase, the first to synthesize DNA in a test tube,
and the first to replicate virus DNA in vitro.
165
No daddy issues there, nope.Josephine
166
Remember that in RNA, uracil replaces thymine.
167
Some viruses (including HIV) can transcribe RNA into DNA through reverse transcription
Stands for ribosomal RNA
Made in the nucloeolus
Combines with proteins to form ribosomes
rRNA
Stands for messenger RNA
Produced by DNA transcription
Carries genetic information to the ribosomses for translation
mRNA
Stands for transfer RNA
Carries a specific amino acid
Complements the nucleotides in mRNA
tRNA
Double stranded
Deoxyribose
backbone
Larger in size
Only role is to store
genetic info
Single stranded
Ribose backbone
Smaller in size
Has roles in many
cellular functions
D
N
A
R
N
A
Before transcription can occur, the DNA must unzip itself
Only one strand of DNA serves as a template
Transcription involves three steps
In eukaryotes, RNA then undergoes further modification and maturation
Two extra nucleotides known as a cap and a poly A tail attach to both ends of the
mRNA
The poly A tail is a long nucleotide consisting of adenine
Both facilitate mRNA transport and prevents degradation of the mRNA molecule
RNA splicing removes sequences of introns
This process then stiches the exons portions together
Exons can combine in many ways to create a variety of mRNA transcripts and
proteins
Thus, cells can produce many more types of proteins than there are genes in the
human genome
Finally, the RNA molecule detaches and moves into the cytoplasm
The DNA structure returns to its normal double-stranded shape
During protein synthesis, tRNA translates the genetic code into the language of proteins
Translation occurs in three stages
Termination
The RNA strand separates from the DNA template once it reaches a termination factor
Elongation
Nucleotides are added to the RNA strand
Initiation
RNA polymerase binds the promoter region
mRNA binds to a small ribosomal subunit
The first tRNA carrying methionine binds to the start codon on the
mRNA
A large ribosomal subunit binds to the smaller to create a P site
The tRNA can then "dock" at this site
Initiation
The next tRNA docks at the A site
The new amino acid forms a peptide bond with the first amino acid
The first tRNA exits the ribosome
The second tRNA moves from the A site to the P site, allowing the
next tRNA to enter
Elongation
The translation process ends when a stop codon is encountered
The peptide chain detaches from the ribosome
The ribosomal complex disassembles
Termination
Some proteins require modification before they are sent to their final destination
through the endomembrane system
Certain amino acids may be removed
Any of five types of molecules may be added
During transcription, RNA splicing removes non-coding regions of RNA
These discarded pieces of RNA have many regulatory roles within the cell
Ribozyme is involved in post-transcription RNA processing and protein synthesis
It can also splice itself
Thomas Cech and Sidney Altman discovered this molecule
They noticed that RNA could act as an enzyme or catalyst
Cech and Altman won the 1989 Nobel Prize for their studies of RNAs
catalytic activities
The discovery of ribozyme led to the development of the RNA world hypothesis
According to this theory, RNA was the first genetic material
This theory also explains why RNA can perform multiple cellular tasks
Micro RNA (miRNA) is a single-stranded discarded product of transcription
Short interfering RNA (siRNA or RNAi) is produced when enzymes digest double-
stranded RNA
168
This molecule can regulate gene expression through several methods
Some forms of miRNA and siRNA are involved in both cancer formation and
defense against DNA and RNA viruses
Other nucleotide-related molecules also contribute to cellular metabolism
Adenosine triphosphate (ATP) is the cells source of energy
ATP serves as a substrate for cyclic adenosine monophosphate (cyclic AMP)
This molecule is a second messenger in the signaling pathway
Cells draw energy from guanosine triphosphate (GTP) during protein synthesis
GTP is also vital in the signal transduction pathway
168
siRNA molecules are as short as it gets for a RNA molecule, as they are usually only 20-25 base pairs in length.
Lipids Carbohydrates
Functional
groups
Disulfide
bridges
Metal ions
Splicing newly
transcribed RNA
Blocking
translation
Enhancing RNA
degradation
Adding methyl
groups to DNA
to activate or
inactivate
transcription
Modern Molecular Genetics
Applications of Genetics
Biotechnology uses molecular biology to manufacture useful products, improve the
human standard of living and to tackle environmental challenges
Genetic breakthroughs have revolutionized many fields
One key development is the recombination of genes and DNA
This is a common process in nature
In the process of conjugation, one bacterium transfers its DNA to another
bacterium
The host bacterium integrates the newly transferred DNA into its own genome
Viruses can also inject their own genes into the host genome to survive and
reproduce
However, scientists did not know how this process occurred until the early 1970s
After understanding DNA recombination, scientists next sought to manipulate genes
Gene manipulation is known as genetic engineering
Scientists first developed a method of cutting and pasting desired genes into a DNA
molecule
They could then choose to mass produce the gene or to transform an organism
genetically
DNA recombination and gene manipulation requires the use of restriction enzymes
All species possess these enzymes
They cut DNA between nucleotides in a specific nucleotide pattern
For example, Hind III cuts between two As in the pattern AAGCTT
This cut will produce a stand-alone A and the fragment AGCTT
In the 1950s, Swiss geneticist Werner Arber
169
discovered restriction enzymes
He isolated enzymes that could recognize specific DNA sequences
However, he could only cut randomly through the DNA
Hamilton Smith of Johns Hopkins University discovered endonuclease R
This enzyme can cut DNA at specific locations
Arber, Smith, and Smith's co-researcher Daniel Nathans won the 1978 Nobel Prize in
Physiology or Medicine for their work on restriction enzymes
Mass production of DNA
Scientists had to learn to mass produce DNA before developing real-world applications of
recombination DNA technology
The polymer chain reaction (PCR) is one such process
169
USAD typo hereArbers name is spelled Werner Aber on page 70 and 71 of the Science Resource Guide.
Agriculture Pharmaceutics Medical practice
Werner
Arber
Hamilton
Smith
Daniel
Nathans
Kary Mullis
170
discovered this process in the 1980s
He won the 1993 Nobel Prize for this achievement
PCR works because heat easily breaks the hydrogen bonds between two DNA
strands
Thus, the DNA polymerase must be able to withstand high heat levels
Thomas Brock discovered the heat-resistant Taq polymerase in the 1960s
These enzymes can be found in thermophilic
171
bacteria near hot springs
PCR requires several ingredients
Double-stranded genomic DNA serves as the template
Chemically-synthesized primers complement the nucleotide sequence at each
end of the DNA strands
Nucleotides serve as building blocks and substrates for the polymerase
PCR can be repeated many times
Repetition exponentially increases the total amount of DNA
Fewer than 30 cycles can produce over one million copies of DNA
PCR has been used in diagnosis, research, and forensic science
Scientists first used recombinant DNA technology to treat diabetes
In ordinary human adults, the pancreas produces the hormone insulin
Insulin regulates blood sugar levels
Blood sugar levels must stay relatively constant
After a person eats, insulin helps transport the increased levels of blood glucose to
body cells
The cells then use glucose to manufacture ATP
Diabetic patients cannot produce or process insulin
These patients require frequent insulin injections
170
The second most famous person to graduate from my high school. (Do you need to ask who the first is?) - Josephine
171
The Greek word thermophilic loosely translates to heat lover. These bacteria thrive at temperatures between 113 and 252 F.
Denaturation
The starting reaction mixture includes genomic DNA, primers, and the four types of nucleotides
This mixture is heated to 95 C
The hydrogen bonds break, separating the two strands of DNA
Annealing
The mixture is cooled to between 50 and 60C
The primers bind to their respective complementary sequences on the individual DNA strands
Extension (Elongation)
The mixture is heated to between 72 and 80C (the optimal temperature for Taq polymerase)
The polymerase is added to the mixture
Primers initiate the continued addition of nucleotides to the DNA strands
Unfortunately, insulin is difficult to synthesize either chemically or biochemically
In addition, human insulin is difficult to obtain
172
Insulin from pigs, sheep, or cows can be
used to treat diabetic patients
Their insulin amino acid sequence and
structure is similar to that of humans
However, the body eventually builds
resistance to the injected insulin
The immune system detects
differences between the animal and
human insulin
The body produces antibodies against the animal insulin
Insulin resistance greatly reduces the effectiveness of the insulin injections
Scientists can produce insulin with recombinant DNA technology
A restriction enzyme cuts through the insulin gene
The gene is then injected into a bacterium plasmid
This process incorporates the gene into the host genome
When the bacterium reproduces, the insulin replicates as well
This technology is highly cost-effective
173
Recombinant DNA technology has been used to treat several other diseases
Drug produced Disease/Disorder treated
Growth hormone Short stature
Erythropoietin Anemia
Interferon Cancer
Humans share 99.9% of nucleotide sequences
3.1 million base pair differences make up the final 0.1%
These differences are caused by a single nucleotide polymorphism (SNP)
A single point mutation changes just one nucleotide
Restriction enzymes can recognize and cut these nucleotide differences
When a restriction enzyme cuts the DNA of two individuals, two different DNA
fragments form
The cut DNA fragment will match either the mothers or the fathers genome
This DNA match is the basic principle of genetic variation and DNA
fingerprinting
DNA fingerprinting has revolutionized the criminal justice system
Its technical name is restriction fragment length polymorphism (RFLP)
Law enforcement officers use RFLP to establish physical evidence
This evidence can convict or exonerate a suspect
This technique has wide applications
172
Just thinking about an insulin donation gives me the shivers. Ugh, the needles!Eric
173
Recall that in optimal conditions, bacteria can divide every twenty minutes.
Paternity and
maternity
disputes
Identification of
individuals
Exoneration of
those wrongly
accused
Type I
diabetes
The pancreas
cannot produce
insulin
Type II
diabetes
Body cells do
not respond to
insulin
RFLP uses PCR, restriction enzyme digestion, and agarose gel electrophoresis
PCR amplifies the DNA sample
Usually, very little DNA remains at a crime scene
Crime scene DNA can come from several sources
In order to analyze DNA fragments, restriction enzymes must first digest the DNA
fragments
Then, agarose gel electrophoresis organizes a persons unique pattern of DNA
fragments
Different DNA fragments come from different individuals
The fragments migrate across a chamber filled with gel
This chamber has an electric field
The DNA fragments move towards the field's positive pole
DNA is an acid that donates hydrogen ions
174
It will become negatively charged when placed in the electric field
The agarose gel acts as a molecular sieve that filters DNA fragments
This gel has a texture
175
similar to Jell-O
Smaller pieces of DNA will move faster than larger fragments
Once the gel filters all the DNA, the suspects ladder pattern can be compared
with DNA recovered at a crime scene
Genetic Modification
Humans have attempted to genetically modify other species since first domesticating
animals 10,000 years ago
We have selectively bred animals and plants for many reasons
Early geneticists practiced genetic modification as well
Mendel sought special traits in his pea plants for commercial purposes
174
By definition, an acid is a substance that, when placed in water, increases the waters concentration of hydrogen ions.
175
But sadly not taste.
Hair Saliva Blood Semen Fabric
Agarose gel is placed in a
electric field with a buffer
The restriction-
digested DNA
fragments are placed
in a well
DNA migrates towards
the positive pole of
the electric field
A ladder pattern
of DNA bands
form
To increase food
production
To produce
companion
animals
To provide
entertainment
To fight wars
Darwin was an expert in artificial selection
He was a pigeon breeder
Previously, selective breeding required natural
phenotypes and processes
Genetic engineering rapidly expanded the scope of
selective breeding
Genes could be isolated, identified, cloned, and
transferred between individuals and species
Today, genetic engineering has several key applications
Increase agriculture production
Increase the production of rare drugs
Aid in biomedical research
Genetically modifying an organism is similar to
genetically modifying a gene
However, in organisms, the desired gene must be
injected into the germ line or fertilized egg
This injection ensures all of an offsprings somatic
cells and gametes will express the desired gene
Genetically modified organisms (GMOs) have many uses
176
However, much debate surrounds the genetic modification of organisms
However, GMOs may pose risks to human health, other species, and the environment
177
Genetic modifications may cause allergic reactions in humans
The long-term effects of these modifications on metabolism are still unknown
New frontiers in genetics
Epigenetics is the study of environmental and chemical factors that alter gene expression
178
These factors affect the inheritance of traits without altering the DNA sequence
Scientists have long known that environment can influence individual traits
Identical twins
179
share the same genes, but can have different traits
176
In the SmartArt below, environmental-resistant means resistant to environmental stressors such as drought.
177
Emphasis on the may: there is currently no scientifically accepted evidence against the use of GMOs.
178
The definition USAD gives in the text itself differs slightly from the glossary entry at the back of the Resource Guide. Ive gone with
the latter here, as it appears to be in agreement with numerous online sources.
179
Or if you want to be fancy, monozygotic twins.
Methods of inserting
foreign genes into an
organism
Microinjecting the cloned DNA or transgene into the pronucleus
of the sperm or oocyte
Transferring the through a virus (retrovirus infection)
Injecting transformed embryoni stem cells into an early embryo
Increasing
agricultural
production
Producing drugs
and vaccines
Increasing
resistance to
pests and
disease
Producing
environmental-
resistant crops
Enhancing
nutrient content
of crops
Reducing costs
of agriculture
and drug
production
Daughter cells can inherit environmentally modified genes
180
If the specific gene is found in a germ cell, future generations can also have the trait
Chemicals influence our genes in two ways
In DNA methylation, an extra methyl group CH
is added to the DNA backbone

This addition can either activate or inactivate the gene
If the methyl group binds to a nucleotide sequence, transcription my not occur
The methyl group can interfere with proteins
These proteins include the transcription factors that attach to the promoter
region of the gene
Chemicals can also bind histones more tightly or loosely to DNA
181
Genes can be turned off or exposed to transcription factors and turned on
A genetic disease may occur if histones are modified in a coding region
Cancer, diabetes, mental illnesses, and other diseases can be traced to epigenetic changes
The mechanisms and factors of epigenetics are still little understood
182
Scientists made numerous genetic breakthroughs in the second half of the 20
th
century
Stanford University scientists Paul Berg, Herbert Boyer, and Stanley Norman Cohen
identified, cloned, and sequenced many disease genes
Many geneticists won Nobel Prizes
Frederick Sanger won a second Nobel in 1980 for his work on DNA sequencing
The Human Genome Project (HGP) coordinated the efforts of individual geneticists to
sequence the entire human genome
Scientists sought to map the location of all human genes on chromosomes
They wanted to create linkage maps that showed all possible inherited traits
The National Institutes of Health and the Department of Energy were its primary funders
James Watson was appointed the first director of the National Center for Human
Genome Research in 1989
183
The HGP eventually became a joint public-private competition
Celera Genomics founder J. Craig Venter played a vital role in the project
New techniques such as RFLP, PCR, and synthetic bacterial and yeast chromosomes arose
during the project
These techniques led to several re-adjustments of research goals and timelines
The HGP was successfully completed ahead of schedule and below budget
Francis Collins presented a draft with 90% of the completed genome sequence in June 2000
Collins had directed the sequencing of the cystic fibrosis gene in 1999
He succeeded Watson as the head of the National Center for Human Genome Research
Scientists published the entire human sequence in 2003
The HGP has offered scientists a better understanding of the human genome
184
180
Turns out Lamarck may have been on to something after all.
181
According to Molecular Signals of Epigenetic States, a research paper by Robert Bonasio, et al., an epigenetic system should have the
potential to be passed from parents to offspring indefinitely, but should also be reversible. Scientists do not agree on whether histone
modification is a true epigenetic system, as it is likely that relatively few of these modificationswill be self-perpetuating and inherited.
182
If your curiosity has been piqued, check out this article: http://tinyurl.com/mp2ug54
183
This organization was created in 1989 as the National Institutes of Healths component of the HGP.
184
USAD states that the Y chromosome is the smallest (pg. 78 of the Resource Guide), but the National Institutes of Health website
points to chromosome 21 as the smallest.
HGP scientists believed the project had
many ethical, legal, and social
implications
They advocated genetic privacy
The HGP project has also changed
how diseases are diagnosed and
treated
185186
This change affects the use of
pre-implementation and prenatal genomic diagnosis
The HGP may be only the tip of the iceberg
Functional genomics and proteomics are the current genetic frontiers
Functional genomics seeks to understand how proteins interact with DNA
Proteomics
187
seeks to understand how proteins interact with other proteins
188
185
Over 2,000 genetic tests for human conditions have been developed as a result of the HGP.
186
For more information about the HGPs impact on human life, check out http://tinyurl.com/mp8o3eo
187
Proteomics is a blend of the words protein and genome.
188
Current research in this field involves mimicking a missing protein or altering the shape of a defective one. Scientists hope to use this
knowledge to develop personalized forms of cancer drugs (among other diseases) that will be more effective and have fewer side effects.
The human genome contains about 3.1 billion nucleotides
Humans have about 22,5000 genes
Each gene contains about 3,000 base pairs
All humans carry about 99.9% of the same genome
Half of the human genome consists of repeating noncoding sequences
The purposes of these sequences are still unknown
Coding regions make up only about 2% of our genome
Mutations occur more often in males
Human chromosomes have randomly distributed "gene rich" and "gene poor" regions
In contrast, most other species have genes that are approximately evenly distributed
Humans, flies, and roundworms share the majority of their gene families
However humans have an expanded gene family and a wider range of proteins
Alternative splicing of mRNA and posttranslational modification allow human intracellular molecules to
perform a variety of functions
Single nucleotide polymorphisms occurs at 1.4 million locations in the human genome
These areas can potentially be used to trace human evolution
They may also help us locate disease genes for new therapies
Chromosome 1 is the largest, with nearly 3,000 genes
The Y chromosome is the smallest, with about 200 genes
Genetic
Privacy
Employers and insurance companies should not use
genomic information to discriminate in employment
health care coverage
Genomic information should be used and interpreted
fairly
The benefits of genomic research must be distributed
across all areas of society
CONCLUSION
The USAD Science Guide, in One Page
Another Brief History of Genetics
Scientists first hypothesized about the inheritance of traits over two thousand years ago
However, the scientific study of inheritance did not begin until the early 20
th
century
Scientists called this study genetics
Modern biology builds upon Mendelian inheritance and Darwinian evolution
This era began with the discovery of DNAs structure and function
The Human Genome Project, completed in 2003, is one of many recent genetic
accomplishments
For the first time, scientists understood that all human diseases have genetic roots
Scientists hope that the completed project will lead to treatments for many diseases
Genetics in a Nutshell
Section I reviews the structure and processes of cells
It details the life cycles of both single cell and multicellular organisms
It also covers the stages of cell division and gamete production in sexually reproducing
species
This section ends with a discussion of cell cycle regulation and malfunction
Section II breaks down Mendels studies and three laws of inheritance
Mutations, gene location, and differences in gene regulation can affect Mendelian
inheritance
Simple trait inheritance is only one of many possible patterns of inheritance
Scientists study these patterns to broaden their understanding of genetic diseases
They need to understand the origins of these diseases before developing
effective treatments
Section III analyzes modern trends in the study of genetics
It details the connection between genetics and evolution
Genetics provide much of the evidence for evolution
This section also explains historically important experiments that analyzed the physical
nature of genes and inheritance
Genetics today has revolutionized agriculture, disease treatment and diagnosis, and the
criminal justice system
However, modern applications of genetics carry a wide range of ethical, social, and
legal implications
The field of genetics stretches from Greek philosophers first
attempts at analyzing inheritance two thousand years ago to
Mendels studies of pea plants, from the modern evolutionary
synthesis to the Human Genome Project.
questions should come from the
Conclusion.
0 questions come from the Conclusion on
the USAD Science Practice Test.
The Conclusion covers pg. 81 of the USAD
POWER LISTS
All numbers in parentheses refer to the page numbers of the USAD Resource Guide
189
where you can find the
original context of the defined term.
PEOPLEGENETICISTS
Albrecht Kossel (54) - German chemist

- Identified the four nitrogenous bases of DNA
- Won the 1910 Nobel Prize in Physiology or Medicine
Alfred Hershey (57) - Worked at the Cold Spring Harbor Laboratory

- Determined that viruses pass DNA, not proteins, to their
host
Alfred Sturtevant (8, 46, 78) - Thomas Morgans student

- Developed the first gene linkage map
- Theorized that genes are arranged linearly on
chromosomes
- Observed the distance between two linked genes is directly
proportional to the probability of crossing over between
them
Archibald Edward Garrod (8,

38)
- British physician
- Discovered the first genetic disease (alkaptonuria) in 1902
Aristotle (6) - Greek philosopher

- Published History of Animals and Generation of Animals
- Hypothesized that an offspring was the product of the
parents co-mingled blood
Arthur Kornberg (65) - Biochemist at Stanford University

- Studied DNA and RNA synthesis
August Weismann (50, 51) - German developmental biologist

- First scientist to link meiosis, sexual reproduction, and
genetic variation
- Experimented on mice
- Disproved pangenesis, blending inheritance, and
Lamarckian inheritance
- Developed the germ plasm theory of heredity
- Theorized that crossing over during meiosis led to genetic
variation
189
Some editions may vary, particularly those offered to schools as digital subscriptions.
Carl Erich Correns (7, 37) - German botanist and geneticist

- Investigated effect of extra-chromosomal factors on
physical traits
- Studied garden peas
- Published a 1900 paper referencing Mendels law of
segregation and independent assortment
Colin MacLeod (57) - Oswald Averys colleague

- Demonstrated that Griffiths transforming principle was
DNA, not protein
Daniel Nathans (71) - Worked with Hamilton Smith on restriction enzyme

research
- Shared the 1978 Nobel Prize in Physiology or Medicine
with Werner Arber and Hamilton Smith
Edith Rebecca Saunders (45) - British botanist and plant geneticist

- Conducted dihybrid crosses of sweet peas with William
Bateson and Reginald Punnett
- Discovered linked genes
Edmund Wilson (8) - American embryologist

- Discovered the difference between male and female sex
chromosomes
- Observed that sex-linked traits do not follow Mendels law
of independent assortment
Edouard van Beneden (7) - Belgian scientist

- Developed a technique for staining a cells nucleus and
chromosomes
Eduard Strasburger (7) - Polish scientist

chromosomes
Edwin Chargaff (58) - Compared DNA from different organisms

- Used paper chromatography and enzymes to analyze the
nucleotide composition of DNA molecules
- Discredited Levenes tetranucleotide hypothesis
- Developed Chargaffs rule of base pairing
Erich von Tschermak-

Seysenegg (7, 37)
- Austrian scientist
- Grandson of Mendels biology professor at the University
of Vienna
- Confirmed Mendels 3:1 phenotype ratio through plant
breeding experiments
- Published his research in June 1900
Ernst Mayr (54) - Evolutionary biologist

- Proposed the biological species concept
- Published The Evolutionary Synthesis
Estella Elinor Carothers (9) - First scientist to present cytological evidence for the
independent assortment of chromosomes
- Observed cell division in grasshopper testes
Francis Collins (79) - Led the 1999 sequencing of the cystic fibrosis gene
- Succeeded James Watson as director of the Human
Genome Project
Francis Crick (58-60) - Developed the double helix DNA model and semi-
conservative model of DNA replication
with Watson and Wilkins
- Worked at the same research institute as Wilkins and
Franklin
Franklin Stahl (61) - Molecular biologist

- Confirmed the semiconservative model of DNA replication
Frederick Griffith (56) - English microbiologist

- Studied the smooth S- and rough R-strain of S.
Pneumoniae
- Believed that the transfer of a transforming principle
allowed the R-strain to acquire a heat-resistant substance
from the S-strain
Frederick Sanger (78) - Won his 2

nd
Nobel Prize (in Chemistry) in 1980 for
developing DNA sequencing techniques
Friedrich Miescher (54) - Swiss biochemist

- Discovered nucleic acid in 1869
G.H. Hardy (52) - British mathematician

- One of two developers of the Hardy-Weinberg theorem
Gregor Mendel (5, 6, 28, 30,

33, 35, 48, 80, 82)
- Austrian monk and founder of genetics
- Grew up on a farm
- Studied at the University of Vienna with Tschermaks
grandfather
- Failed the teacher certification examination twice
- Became an ordained minister at a Brno monastery in 1847
- Observed 30,000 pea plants from 1856 to 1864
- Developed the three laws of genetics
- Published Experiments on Plant Hybridization in 1868
Hamilton Smith (71) - Researcher at Johns Hopkins University

- Discovered endonuclease R
with Daniel Nathans and Werner Arber
Hippocrates (6) - Greek philosopher

- Developed the theory of pangenesis
Hugo de Vries (7, 37) - Dutch botanist and geneticist

- Studied the role of mutations in evolution
- Developed a plant-breeding program similar to Mendels
- Acknowledged Mendels prior genetics research in a 1900
paper
J.B.S. Haldane (9) - British evolutionary biologist

- Co-founder of population genetics and modern
evolutionary synthesis
James Watson (58-60, 79) - Developed the double helix DNA model and semi-
conservative model of DNA replication
with Wilkins and Crick
- Worked at the same research institute as Wilkins and
Franklin
- First head of the National Center for Human Genome
Research
- Directed the Human Genome Project
Joseph Kolreuter (6) - First scientist to study genetic crosses

- Used tobacco plants to support Hippocratess idea of
pangenesis in the 1760s
Karl Landsteiner (42) - Austrian scientist

- Studied the agglutination patterns of different blood types
- Discovered the ABO blood typing system
Kary Mullis (73) - Developed the polymerase chain reaction process in the
1980s
- Won the 1993 Nobel Prize in Chemistry
Linus Pauling (59) - Won the 1954 Nobel Prize in Chemistry for his research
into the nature of the chemical bond and its application
to the elucidation of the structure of complex substances
- Developed a molecular model building technique used by
Watson and Crick
Maclyn McCarty (57) - Oswald Averys colleague

- Demonstrated that Griffiths transforming principle was
DNA, not protein
Martha Chase (57) - Worked at the Cold Spring Harbor Laboratory

- Alfred Hersheys assistant
- Determined that viruses pass DNA, not proteins, to their
host
Matthew Meselson (61) - Molecular biologist

- Confirmed the semiconservative model of DNA replication
Maurice Wilkins (60) - Rosalind Franklins colleague

- Published a 1953 paper in Nature with Franklins X-ray
data
with Watson and Crick
Michael Dawson (56) - Scientist at Columbia University

- Replicated Frederick Griffiths experiment in a test tube
Nettie Stevens (8) - American embryologist

- Discovered the difference between male and female sex
chromosomes
Oswald Avery (56) - Scientist at Rockefeller University

- Studied the chemical composition of S. Pneumoniae
- Theorized that the polysaccharides in the bacterias
capsule stimulated antibody production in infected
patients
- Chemically analyzed the transforming principle and
confirmed that it was DNA
Phoebus Levene (54) - Russian-American biochemist

- Worked with Albrecht Kossel
- Identified deoxyribose as a part of DNA
- Concluded that DNA is a long-chain polynucleotide
consisting of sugar, phosphate, and nitrogenous bases
- Proposed the erroneous tetranucleotide hypothesis
Plato (6) - Greek philosopher

- Theorized about reproduction, embryonic development,
and heredity
Reginald Punnett (8, 40, 45) - British geneticist

- Conducted dihybrid crosses of sweet peas with William
Bateson and Edith Rebecca Saunders
- Creator of the Punnett square
Richard Sia (56) - Scientist at Columbia University

- Replicated Frederick Griffiths experiment in a test tube
Roger Kornberg (65) - Researcher at Stanford University

- Arthur Kornbergs son
- Won a Nobel Prize in Chemistry
- Discovered DNA transcription
Ronald A. Fisher (9, 53) - British statistician and geneticist

- Controversially supported eugenics
- Trained in biometry
- Statistically analyzed genetic variations within a
population
- Published a revolutionary 1918 paper on the inheritance
of quantitative traits
Rosalind Franklin (58, 59) - Maurice Wilkinss colleague

- Worked at the same research institute as Watson and
Crick
- Studied and refined X-ray crystallography
- Produced images of the DNA molecule that Crick and
Watson used in their research
Severo Ochoa (65) - Researcher at New York University

- Studied DNA and RNA synthesis
- Arthur Kornbergs mentor
Sewall Wright (9) - American geneticist

Sidney Altman (69) - Studied the enzymatic and catalytic activities of RNA
- Developed the RNA world hypothesis
- Shared the 1989 Nobel Prize in Chemistry with Thomas
Cech
Socrates (6) - Greek philosopher

- Theorized about reproduction, embryonic development,
and heredity
Theodor Boveri (7) - German scientist

- Observed the segregation of chromosomes during
meiosis
- Theorized that chromosomes transferred genetic material
between generations
Theodosius Dobzhansky (54) - Evolutionary biologist

- Worked with Morgan in the 1930s
- Wrote Genetics and the Origin of Species
- Defined evolution as a change in allele frequency within a
gene pool
- Theorized mutation was the driving force behind
evolution
Thomas Brock (73) - Discovered Taq polymerase in the 1960s
Thomas Cech (69) - Studied the enzymatic and catalytic activities of RNA
developed the RNA world hypothesis
- Shared the 1989 Nobel Prize in Chemistry with Sidney
Altman
Thomas Hunt Morgan (8, 9,

37, 45, 46, 51, 54, 78)
- Confirmed the existence of linked genes
- Demonstrated that linked genes existed on the sex
chromosome
- Studied and experimented with fruit flies
- Induced fruit flies to produce a new species through the
use of X-rays, temperature, and chemicals
- Developed the first gene linkage map
- Theorized that genes are linearly arranged on
chromosomes
Walter Sutton (7) - American scientist

- Observed the segregation of chromosomes during
meiosis
- Theorized that chromosomes transferred genetic material
between generations
Walther Flemming (7, 50) - German scientist

chromosomes
- First scientist to use the word mitosis to describe cell
division
Werner Aber (71, 72) - Swiss geneticist

- Isolated enzymes that could read specific DNA
sequences
with Daniel Nathans and Hamilton Smith
Wilhelm Weinberg (52) - German physician

- One of two developers of the Hardy-Weinberg theorem
William Bateson (8, 44, 45) - British geneticist

- Conducted dihybrid crosses of sweet peas with Edith
Rebecca Saunders and Reginald Punnett
- Translated Mendels works into English
William Castle (52) - American geneticist

- Theorized that allele frequencies would remain constant if
no natural selection occurred
CELL STRUCTURES
Capsule (13, 56) - Thick layer of polysaccharides

- Attaches to the cell wall of bacteria
- Traps nutrients
- Defends bacteria from host immune system
Cell wall (9, 11, 13, 18, 19,

20, 22)
- Barrier found outside the plasma membrane
- Protects the cell from environmental changes
- Made of peptidoglycan (prokaryotes) or cellulose (plants)
Central vacuole (16, 18) - Found in plants and certain protists

- Acts as a lysosome in single-celled protists
- Maintains turgor pressure on cell walls
- Stores pigments and wastes
- Maintains proper water and salt levels within the cell
Centriole (17, 18) - Anchors the spindle fibers during cell division
Centromere (18, 20-22, 24,

25)
- Sister chromatids join together here
- Spindle fibers also attach here during cell division
Centrosome (17-19, 21, 22) - Functions as a microtubule organizing center

- Consists of many centrioles
Chloroplast (17, 29, 47, 49) - Found only in plants and photosynthetic protists
- Transforms solar energy into ATP through photosynthesis
- Contains chlorophyll pigments
- Can self-replicate
- Contains its own DNA and ribosomes
- Surrounded by a double layer of membranes
- Believed to have descended from symbiotic prokaryotes
living within eukaryotic cells
Chromosome (7, 8, 9, 11, 13,

15, 16, 18- 29, 31-33, 36, 37,
39, 45-47, 49- 51, 54, 57, 60,
61, 76-80)
- Molecule consisting of DNA, RNA, and proteins
- Found within the nucleus
- Stores genetic information
- Always found in pairs (see homologous chromosomes)
Cilia (17) - Small projections on the plasma membrane

- Consist of microtubule bundles
- Assist in cell locomotion and surface adhesion
Coated pit (42) - Region of the cell surface

- LDL molecule clusters near this region before entering the
cell through endocytosis
Cytoplasm (12-20, 22, 24,

25, 67, 68, 80)
- Aqueous medium that houses all subcellular organelles
- Stores minerals, salts, and vitamins
- Location of most cellular activities
Cytoskeleton (15, 17, 67) - System of fibers

- Acts as the cells muscle and skeleton
- Responsible for cell movement, organelle organization,
and cytokinesis
- Consists of microtubules, intermediate filaments, and
microfilaments
Cytosol (12, 14, 16) - Fluid portion of the cytoplasm
Endomembrane system (16,

68)
- Responsible for modifying and specializing non-cytosolic
proteins
- Includes the nuclear envelope, rough and smooth ER,
Golgi apparatus, and transport vesicles
Flagella (11, 13, 17) - Whip-like structures

- Allow the cell to move in aqueous environments
- Contain one or two large tails
- Found in sperm cells
- Consist of microtubule bundles
Golgi apparatus (16, 20, 68) - Group of membranous sacs

- Modifies, packages, and ships proteins to their final
destination
- Receives proteins from the rough ER
- Also known as the Golgi complex or body
Intermediate filament (15,

17)
- Stabilizes and maintains organelle position
- Structure resembles the steel cables of suspension bridges
Kinetochore (21, 22, 24, 25) - Protein structure

- Only appears during mitosis and meiosis
- Spindle fibers attach here to pull sister chromatids apart
LDL receptor (42, 64) - Protein molecule

- Found on the cell surface
- Recognizes and internalizes LDL molecules
- Mutations in the LDL receptor gene prevent this protein
from binding and clustering LDL
Lysosome (16, 20) - Digests food particles through endocytosis

- Eliminates aged and worn cellular structures through
autophagy
- Only found in animal cells
Microfilament (15, 17, 22) - Thinnest of the three cytoskeletal elements

- Plays a key role in many cellular procedures
Microtubule (15, 17-19, 21,

22, 24)
- Largest of three cytoskeletal elements
- Provides intracellular support
- Transports molecules throughout the cell
- Acts as a spindle fiber during cell division
- Forms the backbone of cilia and flagella
- Attached to centrosomes in animal cells
Mitochondrial DNA (48) - Controls energy production

- Used to trace the female lineage
- Male mitochondrial DNA is located in the middle of the
sperm and destroyed during fertilization
Mitochondrion (17, 29, 47,

48)
- Found only in animal cells
- Produces ATP molecules through cellular respiration
- Contains its own DNA and ribosomes
- Surrounded by a double-layer of membranes
- Believed to have descended from symbiotic prokaryotes
living within eukaryotic cells
Nucleoid (10, 12, 13, 32, 60) - Stores prokaryotic genetic material
- Houses a single circular DNA molecule
Nucleolus (16, 20, 22, 24, 65) - Round, granular structure

- Found in the nucleus
- Consists of protein and RNA
- Produces ribosomal RNA
Nucleus (7, 9-21, 24, 25, 28,

29, 31, 32, 47-49, 54, 60, 65-
68, 77, 80)
- Stores genetic information in eukaryotic cells
- Sends mRNA to ribosomes
- Location of the nucleolus
Pili (13) - Appendages that surround some bacteria

- Shorter and finer than flagella
- Allow surface adhesion
- Also known as fimbriae
Plasma membrane (10, 13-

17, 19, 29, 42)
- Semi-permeable barrier surrounding the cell
- Consists of a double layer of phospholipids
- Has protein channels that allow molecules to enter and
exit the cell
Plasmid (13, 75) - Isolated DNA molecule found only in prokaryotes

- Can carry beneficial foreign genes
- Circular in shape
- Double-stranded
Ribosome (13, 14, 16, 17, 60,

61, 65, 67-69, 80)
- Complex of ribosomal RNA and around 36
190
proteins
- Serves as the cells protein factory
- Is either cytosolic (free-floating in the cytosol) or attached
to the rough ER
Rough ER (16) - Acronym for rough endoplasmic reticulum

- The first destination for non-cytosolic proteins after
synthesis
- Rugged surface texture due to presence of ribosomes
Smooth ER (16) - Acronym for smooth endoplasmic reticulum

- Contains no ribosomes
- Synthesizes lipids, steroids, and carbohydrates
- Detoxifies poisons that enter the cell
190
USAD says that ribosomes are composed of more than seventy different types of protein on page 16 of the Resource Guide.
Vesicle (12, 16, 21, 22) - Pinched off piece of plasma membrane
- Stores and transports proteins
- Produced by the endomembrane system
DATES
1794 (47) - John Dalton describes colorblindness
1831 (50) - Charles Darwin embarks on his voyage around the world
on the H.M.S. Beagle
1836 (50) - Charles Darwin concludes his voyage around the world on
the H.M.S. Beagle
1854 (30, 31) - Gregor Mendel begins his pea plant experiments
1859 (50) - Charles Darwin publishes On the Origin of Species by

Means of Natural Selection
1865 (31) - Gregor Mendel concludes his pea plant experiments
1866 (7, 36, 48) - Gregor Mendel publishes Experiments on Plant

Hybridization
1868 (37, 42) - Gregor Mendel becomes prelate of the Brno monastery
- Karl Landsteiner is born
1869 (54, 65) - Friedrich Miescher discovers nucleic acid
1878 (7, 50) - Walther Flemming observes and describes the behavior of
chromosomes during mitosis
1884 (37) - Gregor Mendel dies
1890 (37) - Hugo de Vries begins to study mutation and plant

breeding
1900 (7, 28, 37, 44, 48, 51,

53)
- Hugo de Vries, Carl Correns, and Erich Tschermak publish
research papers confirming Mendels laws
1902 (7, 9, 38, 52) - Udny Yule discovers that the allele frequencies in a
population will always add to one
- Archibald Garrod describes alkaptonuria, the first disease
linked to genes
- Walter Sutton and Theodor Boveri develop the
chromosome theory of inheritance
1903 (52) - William Castle theorizes that allele frequencies would

remain constant if no natural selection occurred
1910 (45, 54) - Sex chromosomes are discovered

191
- Albrecht Kossel wins the Nobel Prize in Chemistry
1918 (9, 53, 55) - R.A. Fisher publishes a paper on the inheritance of
quantitative traits
- World War I ends
- Spanish influenza pandemic begins
1928 (56) - Frederick Griffith describes a substance that can pass traits
from one organism to another as a transforming
principle
1930s and 1940s (53) - Scientists seek to unify evolution and genetics
1933 (46, 56) - Oswald Avery studies the chemical composition of

Streptococcus pneumoniae
1943 (42, 43) - Barry/Chaplin case is brought to court
1950s (10, 70, 71) - Stanley Miller and Harold Urey show that inorganic
molecules could form organic molecules under early Earth
conditions
- Werner Arber isolates restriction enzymes
1952 (57, 58) - Alfred Hershey and Martha Chase determine that viruses
transfer DNA, not protein, to their hosts
1953 (58, 60, 65) - James Watson and Francis Crick develop the double helix
DNA model
1958 (61) - Matthew Meselson and Franklin Stahl experimentally

prove the semiconservative model of DNA replication
1960s (73) - Thomas Brock discovers Taq polymerase in thermophilic

bacteria
1962 (60) - Francis Crick, James Watson, and Maurice Wilkins win the
Nobel Prize for Physiology or Medicine
1969 (58) - Alfred Hershey and two other scientists win the Nobel
Prize in Physiology or Medicine
1970 (41, 71) - The Southwest Medical Center admits 14-year-old J.D.,
who is suffering from high blood cholesterol levels
1970s (71) - Scientists discover the mechanisms behind bacterial

conjugation
192
1980s (73) - Kary Mullis develops the polymer chain reaction process
191
The article Sex Chromosomes and Sex Determination by Ilona Miko asserts that Edmund Wilson first linked sex determination to
the X chromosome (discovered by C.E. McClung in 1901) in 1905. See http://tinyurl.com/kqlf3s7.
192
Recall that bacteria can transfer genetic material through direct cell-to-cell contact or a bridge-like connection. This process is known
as conjugation.
1984 (43) - Courtrooms first use DNA fingerprinting
1989 (70, 79) - James Watson heads the National Center for Human
Genome Research
- Sidney Altman and Thomas Cech share the Nobel Prize in
Chemistry
1999 (79) - Francis Watson leads the sequencing of the cystic fibrosis
gene
2000 (79) - Scientists reveal a rough draft of the Human Genome

Project
2003 (38, 79, 80) - Scientists complete the Human Genome Project
NUMBERS
0 (45) - Number of white-eyed female fruit fly offspring when

Morgan crossed a red-eyed F1 male and red-eyed F1
female
3 (37) - Maximum number of traits Mendel crossed at the same

time
4 (11, 12, 20, 23-26, 29, 36,

40, 54, 55, 60, 64, 66, 73)
- Number of haploid daughter cells produced by meiosis
- Number of ATP molecules required to add one nucleotide
during DNA replication
- Number of kingdoms in the Eukarya domain
- Number of major types of biological molecules
- Number of phases in mitosis
- Number of boxes in a monohybrid Punnett square cross
- Number of nitrogenous bases in DNA
- Number of letters in the genetic code
7 (30) - Number of pea plant traits Mendel selected to investigate

- Number of chromosomes in pea plants
8 (43) - Total possible combinations of blood type genotypes
20 (53) - Total number of amino acids
23 (23, 24, 33) - Number of chromosomes in a haploid human cell
34 (30) - Total number of pea plant traits
35 (47) - If a mother is older than this age, the probability of

chromosomal abnormalities in her baby increase
dramatically
37 (36) - Number of green wrinkled pea plants in the F2 generation

when Mendel crossed pea shape and color
46 (23, 24, 33) - Number of chromosomes in a diploid human cell
64 (59) - Maximum number of codons possible
113 (36) - Number of yellow wrinkled pea plants in the F2

generation when Mendel crossed pea shape and color
122 (36) - Number of green round pea plants in the F2 generation

200 (41, 42, 78) - Normal blood cholesterol level for a young adult, in mg/dl
- Lower limit of cholesterol levels in J.D.s family
- Number of genes on the Y chromosome
224 (35) - Number of white-flowered (recessive phenotype) pea

plants in the F2 generation when Mendel crossed white-
and purple-flowered pea plants
260 (12, 14, 25-27) - Number of cell types in an adult human
367 (36) - Number of yellow round pea plants in the F2 generation

639 (35) - Number of pea plants Mendel used in his dihybrid cross of
pea shape and color
705 (35) - Number of purple-flowered (dominant phenotype) pea

plants in the F2 generation when Mendel crossed white-
and purple-flowered pea plants
782 (45) - Number of white-eyed male fruit fly offspring when

female
800 (41) - J.D.s cholesterol exceeded this level, in mg/dl

- Upper limit of cholesterol level in J.D.s family
929 (35) - Number of F1 pea seedlings planted by Mendel when he

crossed white- and purple-flowered pea plants
1,011 (45) - Number of red-eyed male fruit fly offspring when Morgan
crossed a red-eyed F1 male and red-eyed F1 female
2,459 (45) - Number of red-eyed female fruit fly offspring when

female
3,000 (39, 78) - Average number of nucleotides in a single gene

- Number of genes on chromosome 1
22,000
193
(11, 26, 39, 59) - Number of genes in the human body
30,000 (31) - Total number of pea plants Mendel experimented with

193
Page 78 of the Resource Guide states that there are about 22,500 genes in the human body
1 million (26) - Approximate number of eggs in the female ovary
3.1 million (76) - Number of base pairs unique to each human being
50 million (26) - Number of sperm cells produced daily by males
3.1 billion (11, 26, 27, 59, 78) - Number of nucleotides in the human body
50 trillion (9, 23, 25, 27) - Number of somatic cells in an adult human
64 trillion (26) - Total possible combinations of human chromosomes

FAHRENHEIT TEMPERATURES
72 to 80 (72) - Ideal temperature for Taq polymerase during polymerase

chain reaction (PCR)
50 to 60 (72) - Range of temperatures in which primers begin binding to

their complementary DNA sequences during the PCR process
95 (72) - Temperature at which DNA hydrogen bonds break

THEORIES AND MODELS
Aristotelian genetics (6) - Developed by Aristotle

- Suggested that the blending of the parents blood led to
the creation of an offspring in the female womb
Blending inheritance (6, 30,

36, 41)
- Common explanation for inheritance of traits in the 18
th
and 19
th
centuries
- Suggested that offspring would have physical traits that
were a blend of the parents traits
- Rejected by Mendel
Conservative replication (62) - Incorrect DNA replication model

- Suggested that new DNA molecules consist of two new
strands
Dispersive replication (62) - Incorrect DNA replication model

- Suggested that DNA molecules consist of a mixture of old
and new strands
Double helix model (59, 60) - Proposed by James Watson and Francis Crick in 1953
- Deoxyribose and phosphate form strands of DNA
- Hydrogen bonds hold together complementary
nucleotide pairs
Endosymbiosis theory (18) - Proposed by Konstantin Mereschkowski in 1905

- Mitochondria and chloroplasts evolved from symbiotic
prokaryotes that lived within eukaryotic cells
Germ-plasm theory of
heredity (51)
- Developed by August Weismann
- Suggested that only germ plasm controls inheritance
- Somatic and germ cells separate early in development and
are not interchangeable
- First explanation of the genetics behind evolution
Hardy-Weinberg theorem
(52)
- Developed by Wilhelm Weinberg and G.H. Hardy in 1908
- Claims that a populations allele frequencies will not
change if Hardy-Weinberg equilibrium is reached
Lamarckian inheritance (50,

51)
- Developed by Jean-Baptiste Lamarck
- Suggested that an offspring inherits traits that its parents
acquire during their lifetimes
Pangenesis (6, 50, 51) - Developed by Hippocrates and Darwin

- Suggested that offspring formed from the parents organ
seedlings
- Explained why offspring shared identical traits with their
parents
RNA world hypothesis (69) - Developed by Thomas Cech and Sidney Altman
- States RNA was the first genetic material on the early
Earth
Semi-conservative
replication (60-63, 80)
- Proposed by Watson and Crick
- Widely accepted DNA replication model
- States that DNA molecules consist of one old and one
new strand
- The DNA molecule first unzips, then each old strand
serves as a template for a new strand
Tetranucleotide hypothesis
(55, 58)
- Erroneous theory developed by Phoebus Levene
- Stated that DNA has an equal proportion of the four
nitrogenous bases
- Led scientists to believe that DNA only aided the
structural stability of the genetic material
- Disproved by Edwin Chargaff
Theory of evolution (6. 7. 9.

28, 30, 38, 48, 50, 51, 53, 54,
80, 82)
- Developed by Charles Darwin in his book On the Origin of
Species by Means of Natural Selection
- Suggested that individuals with traits best suited to their
environment will survive and reproduce
- Influenced by Darwins observations in the Galapagos
Islands
PEOPLEOTHER SCIENTISTS
Alfred Russel Wallace (7, 50) - British naturalist

- Studied evolution of Australian and Asian species
- Presented his ideas to the Linnean Society of London in
1858
Anton van Leeuwenhoek (9) - First scientist to observe live cells

- Analyzed pond water samples through a microscope
Carolus Linnaeus (9) - Founder of taxonomy

- Classified all life into the animal, vegetable, or mineral
kingdoms
Charles Darwin (6, 7, 30, 50,

51, 80, 82)
- British naturalist
- Developed the theory of evolution by natural selection
- Travelled around the world on the H.M.S. Beagle from
1831 to 1836
- Published On the Origin of Species by Means of Natural
Selection in 1859
- Struggled to reconcile the differences between evolution
and commonly believed theories about inheritance
Harold Urey (10) - Demonstrated that simple molecules could form organic
molecules through simple chemical processes
J. Craig Venter (79) - Founder of Celera Genomics
Jean-Baptiste Lamarck (50) - French naturalist

- Theorized that individuals inherit their parents acquired
traits
John Dalton (47) - First scientist to describe colorblindness

194
Matthias Schleiden (9, 28) - German botanist

- Co-founder of the cell theory
Robert Brown (9) - Scottish botanist

- Discovered the cell nucleus using van Leeuwenhoeks
drawings
- Presented his findings to the Linnean Society of London in
1838
Robert Hooke (9) - First scientist to observe cells

- Could only see the cell wall of dried cork cells
- Published his observations in Micrographia
194
Dalton was color-blind as well. Colorblindness is sometimes referred to as Daltonism in his honor.
Robert Koch (9) - First scientist to identify anthrax

- Theorized that microorganisms cause infectious disease
Rudolf Virchow (9, 28) - Co-founder of the cell theory
Stanley Miller (10) - Demonstrated that simple molecules could form organic
molecules through simple chemical processes
Theodor Schwann (9, 28) - Co-founder of the cell theory
Udny Yule (52) - First scientist to theorize that a populations allele

frequencies always add to one
ORGANIZATIONS
Celera Genomics (79) - Private company founded by J. Craig Venter

- Attempted to complete the sequencing of the entire
human genome before the Human Genome Project could
Cold Spring Harbor

Laboratory (57)
- Alfred Hershey and Martha Chase researched here
Columbia University (56) - Michael Dawson and Richard Sia researched here
Department of Energy (79) - One of two principal funders of the Human Genome
Project
Johns Hopkins University

(71, 72)
- Hamilton Smith and Daniel Nathans researched here
Linnean Society of London

(9, 50)
- Darwin, Wallace, and Brown presented their scientific
discoveries to this institution
National Center for Human

Genome Research (79)
- Directed by James Watson and Francis Collins
- Oversaw the Human Genome Project
National Institutes of Health

(79)
- One of two principal funders of the Human Genome
Project
New York University (65) - Severo Ochoa researched here
Rockefeller University (56) - Oswald Avery researched here
Southwest Medical Center

(41)
- Located in Dallas
- 14-year-old J.D. was a patient here
Stanford University (64) - Arthur Kornberg researched here
University of Vienna (30, 33,

37)
- Mendel studied here
- Erich von Tschermaks grandfather taught botany here
GENETIC TEST SUBJECTS
Bacteriophage (57, 58) - Virus that infects bacteria

- Can reproduce by injecting its own genetic material into
the hosts chromosomes
- Subject of Alfred Hersheys and Martha Chases
experiments
E. coli (58, 60, 61, 73) - Meselson and Stahl used this bacteria in their DNA
replication experiments
- Used to mass produce insulin for diabetic patients
Fruit flies (8, 45, 51, 78) - Latin name is Drosophila melanogaster
- Eye color was studied by Thomas Morgan
- Beloved by generations of AP Biology students
Grasshoppers (9, 45) - Studied by Estella Carothers

- Testes served the first cytological evidence of Mendels
law of independent assortment
- Scientists discovered sex chromosomes in 1910 by
studying their chromosomes
Pea plant (7, 8, 28, 30, 31,

35, 36, 37, 44-46, 48, 51, 76)
- Subject of Gregor Mendels experiments
- Latin name is Pisum sativum
- Easy to cultivate
- Reproduces quickly
- Large flower size
- Easy-to-manipulate pollination process
- Mendel chose seven out of 34 possible physical traits to
experiment with
- Subject of a dihybrid cross by William Bateson, Edith
Saunders, and Reginald Punnett
- Has seven chromosomes
R-strain (56) - A non-virulent strain of Streptococcus pneumoniae

- Lacks a polysaccharide capsule that protects the bacteria
from the immune system
S-strain (56) - A virulent strain of Streptococcus pneumonia

- Contains a polysaccharide capsule that protects the
bacteria from the immune system
Streptococcus pneumoniae
(54, 55)
- Bacteria responsible for most of the casualties during the
Spanish influenza pandemic
Tobacco plant (6) - Studied by Joseph Kolreuter in the 1760s

- Subject of the first systematic genetic crosses
ORGANIC MOLECULES
Adenine (54, 55, 58) - One of the four nitrogenous bases in DNA
- Has a fused double-ring structure
Amino acids (10, 39, 54, 60,

64, 65, 68)
- Building block of proteins
- 20 possible types
Antibody (42-44, 56, 67, 75) - Protein produced by the immune system
- Binds and neutralizes a specific antigen
Anticodon (68) - Group of three nucleotides in tRNA

- Complements a mRNA codon
Antigen (42, 43, 56) - Triggers antibody production

- In red blood cells, can be either A or B
ATP (14, 17, 26, 70, 75) - Acronym for adenosine triphosphate
- Cells primary energy source
- Acts as a substrate for cyclic AMP
- Adding a single nucleotide during DNA replication
requires four of these molecules
Carbohydrate (12, 13, 16, 20,

56, 57, 68)
- One of the four major types of biological molecules
- Provides energy to cells
Cholesterol (41, 42, 64) - A specific type of lipid

- Insoluble in blood
- Forms part of the plasma membrane
- Used to synthesize sex steroids
- Can be produced by all body cells in an energy-intensive
process
- Mainly acquired through diet
- Packaged with proteins within the liver to produce a LDL
cholesterol molecule
Cyclic AMP (56) - Acronym for cyclic adenosine monophosphate

- Used as a second messenger in the neuron transmission
pathway
195
Cytosine (54, 55, 58) - One of the four nitrogenous bases in DNA
- Has a fused double-ring structure
195
For more details on the first and second signaling pathway, check out this link: http://tinyurl.com/n2l4kjf.
DNA (10-13, 15-20, 24, 26-

28, 31, 32, 37, 43, 47-49, 54,
55, 57-80, 82)
- Acronym for deoxyribonucleic acid
- Stores the cells genetic information
- Genetic material for all organisms except the RNA virus
196
- Can be inactivated by DNAse
- Contains phosphorus but not sulfur
- Has the appearance of a viscous and slightly cloudy
solution
- Forms fibrous strands when mixed with ethanol
Erythropoietin (75) - Hormone produced by the kidneys

- Released when the blood has low oxygen levels
- Stimulates the production of more blood cells
- Can be mass produced using recombinant DNA
technology
- Treatment for anemia
Glycoprotein (42) - Protein with one or more sugar chains attached

- Commonly found on the surface of red blood cells
Growth hormone (33, 36, 67,

75)
- Treatment for short stature
technology
GTP (70) - Acronym for guanosine triphosphate

- Cells energy source during protein synthesis
- Part of the signal transduction pathway
Guanine (54, 55, 58) - One of the four nitrogenous bases in DNA
- Has a fused single-ring structure
Histone (77) - Protein that wraps around DNA

- Can turn the gene on or off if modified
Insulin (67, 73-75) - Hormone produced by the pancreas

- Regulates blood sugar levels
- Does not function correctly in diabetic patients
Interferon (75) - Protein produced by virus-infected cells

- Increases other cells resistance to the attacking virus
technology
- Treatment for those undergoing chemo- or radiation
therapy
196
As the name suggests, this virus has RNA instead of DNA as its genetic material. RNA viruses cause diseases such as SARS, hepatitis
C, West Nile fever, influenza, polio, and measles.
LDL cholesterol (42. 64) - Acronym for low-density lipoprotein cholesterol

- Consists of cholesterol molecules and protein
- Produced by the liver for transport to cells
- Clogs arteries when the LDL receptor mutates
Lipid (12, 16, 20, 39, 42, 57,

68)
- Nonpolar and hydrophobic
- Separates organelles within the cell
miRNA (70) - Acronym for micro RNA

- Leftover RNA molecules from non-coding regions of
DNA
- Produced and discarded during transcription
- Involved in cancer formation
- Helps defend the cell against DNA and RNA viruses
mRNA (60, 64-68, 70, 79, 80) - Acronym for messenger RNA
- Carries genetic information in the form of codons from
the nucleus to the ribosome
- Adds a poly A tail and cap to both ends after transcription
- RNA splicing removes intron regions of this molecule
before the molecule moves to the ribosomes
Nucleic acid (10, 12, 54, 56,

57, 60, 80)
- Found in the nucleus
- Contains genetic information
- Discovered in 1869 by Friedrich Miescher
- Has a high phosphorus content
Nuclein (54, 65) - Mixture of nucleic acids and chromosomal proteins

- First observed by Friedrich Miescher in 1869
- Has a high phosphorus content
Nucleotides (10, 11, 15, 20,

26, 32, 39, 58, 60, 62-64, 68,
70, 72, 73, 76, 79, 80)
- Building block of DNA and RNA
- Consists of phosphate, pentose sugar, and a single
nitrogenous base
Phospholipid (10, 12-14, 17) - Lipid molecule

- Forms the plasma membrane of cells
- Each molecule has a hydrophilic phosphate head and
two hydrophobic fatty acid tails
Poly A tail (68) - Nucleotide made of adenine

Primer (62, 63, 73) - Nucleic acid strand

- Complements a specific DNA sequence
- Used in DNA replication
- Replaced by DNA fragments at the end of DNA replication
Protein (12-14, 16, 17, 21,

22, 27-29, 31, 33, 36, 39, 40,
42, 43, 54, 57, 58, 60-71, 73,
75, 78, 80)
- Used in transportation, substance recognition, signal
transmission, and enzymatic reactions
- Initially believed to be the genetic material passed from
parent to offspring
- Produced by a combination of any of 20 amino acids
- Contains sulfur but not phosphorus
rRNA (13, 16, 20, 65, 66) - Acronym for ribosomal RNA
- Produced in the nucleolus
- Clumps with proteins to form ribosomes
- Holds mRNA and tRNA in the correct position for protein
synthesis
Ribozyme (69) - Involved in post-transcription RNA processing and protein

synthesis
- Can splice itself
RNA (10, 12, 13, 16, 20, 32,

54, 57, 62, 63, 65-67, 69, 80,
73, 80)
- Family of nucleic acids
- Involved in protein synthesis
- Single stranded
- Made of ribose sugar
- Smaller in size than DNA
- Believed to be the first genetic material
- Produced in the nucleus
- Can form double-stranded structures if necessary
- Hydrogen bonds link the nucleotide pairs
- Involved in enzymatic and catalytic activities
siRNA (70) - Acronym for short interfering RNA

- Can be abbreviated as RNAi
- Produced when enzymes digest double-stranded RNA
- Involved in gene expression, cancer formation, and
defense against DNA and RNA viruses
Steroid (16, 42, 65) - Lipid molecule

- Has a ring structure
- Primarily functions as a hormone
Thymine (54, 55, 58, 65, 80) - One of the four nitrogenous bases in DNA
tRNA (60, 61, 65, 66, 68, 69,

80)
- Acronym for transfer RNA
- Carries the complementary anticodon to a mRNA codon
- Involved in protein synthesis
- Often forms double-stranded structures
Uracil (54, 65, 80) - One of the four nitrogenous bases in RNA (replaces
thymine)
ENZYMES
DNA ligase (61) - Adds phosphate into gaps in the phosphate-sugar

backbone
- Zips up the new DNA strand with the parent DNA strand
DNA polymerase (62, 63, 73) - Adds complementary nucleotides to the new DNA strands
- Taq polymerase is one type of this enzyme
DNAse (57) - Digests DNA
Endonuclease R (71) - Type of restriction enzyme

- Can cut DNA at specific sites
Helicase (62, 67, 73) - Unzips the DNA double helix

- Creates a replication fork and bubble at the starting point
of replication
Hind III (70, 72) - Type of restriction enzyme

- Cuts between two adenine bases only in the pattern
AAGCTT
Nuclease (62, 71) - Removes incorrect nucleotides during DNA replication
Primase (62, 63, 73) - Synthesizes and attaches RNA primers to replicating DNA
strands
Restriction enzyme (70-72,

75, 76, 80)
- Found in all species
- Cuts DNA between specific nucleotides
- Studied by Werner Arber, Hamilton Smith, and Daniel
Nathans
- Involved in restriction fragment length polymorphism
Taq polymerase (74) - Type of DNA polymerase

- Can withstand high temperatures
- Used in the polymerase chain reaction
RADIOACTIVE TRACERS
N
14
(61, 62) - Acronym for nitrogen-14
- Used as a radioactive tracer in Meselson and Stahls E. coli
experiments
- Also known as the light isotope
197
N
15
(61, 62) - Acronym for nitrogen-15
- Used as a radioactive tracer in Meselson and Stahls E. coli
experiments
- Also known as the heavy isotope
P
32
(58) - Acronym for phosphorus-32
- Injected into bacteriophages as part of the Hershey and
Chase experiment
- Only incorporated into DNA
- Could be extracted from the host bacteria
S
35
(58) - Acronym for sulfur-35
- Injected into bacteriophages as part of the Hershey and
Chase experiment;
- Only incorporated into protein
- Remained in the bacteriophage during the experiment
GREEK AND LATIN WORDS
Anaphase (20, 22, 24, 25, 29,

37)
- Greek; anaup
Autophagy (16) - Greek, autoself; phageinto eat
Chromosome (7, 8, 12, 16,

18, 19-29, 31-33, 36, 37, 39,
45-47, 49-51, 54, 57, 60, 61,
76, 78-80)
- Greek; chromocolor; somebody
Cytokinesis (19, 20, 22, 24,

25, 27, 29)
- Greek; cytocell; kinemove
Epigenetics (5, 77, 81) - Greek, epiabove, on top of
Eukaryote (11-16, 19, 20, 22,

24, 29, 32, 58, 60, 62, 66-68)
- Greek; eutrue; karyonucleus
Filius (33) - Latin; son
In utero (48) - Latin; in the womb

197
There are two stable isotopes of nitrogen, and nitrogen-14 happens to be just a bit lighter than nitrogen-15.
Lysosome (16, 20) - Greek; lysesplit
Metaphase (20-22, 24-26,

29)
- Greek; metain the middle of
Mitosis (7, 18, 19-24, 27-29,

50, 80)
- Greek; thread
Pangenesis (6, 50, 51) - Greek for whole birth
Pleiotropy (44, 49) - Greek; pleiomany; tropicaffecting
Prokaryote (10-14, 16, 18,

19, 28, 29, 32, 47, 58, 60- 62,
67)
- Greek; probefore; karyonucleus
Prophase (20-22, 24-26, 29) - Greek; proearlier, before
Telophase (20, 22, 24, 25,

29)
- Greek, teloend
Thermophilic (73) - Greek; thermoheat; philialike

PERCENTAGES
1% (44) - Fewer than one percent of Americans carry the BRCA1 or

BRCA2 genes
5% (11, 78) - Percentage of human genes that actively code for

proteins
198
- Percentage of the Human Genome Project budget set
aside for potential ethical, legal, and social issues
10% (44) - Less than ten percent of breast cancer cases occur due to
BRCA1 and BRCA2 mutations
- Percentage of dividing cells that undergo mitosis at any
point in time
20% (57) - Percentage of adenine and thymine in human DNA
22% (57) - Percentage of adenine and thymine in dog DNA
28% (57) - Percentage of cytosine and guanine in dog DNA
30% (57) - Percentage of cytosine and guanine in human DNA
90% (20, 24, 79) - Percentage of time the cell spends in interphase
- Percentage of time prophase I takes up of both meiosis I
and II
- Percentage of the HGP published in a 2000 rough draft
198
USAD mentions that slightly more than 2% of our entire genome codes for proteins on page 39.
99.9% (75) - Percentage of nucleotides all humans share

- Percentage of eukaryotes that have adopted sexual
reproduction
TYPES OF CELLS
Dividing cell (19, 26, 27) - Constantly undergoes interphase and mitosis
- Occurs in areas with frequent cell death, such as the skin,
intestines, and uterus
- Only 10% of these cells reproduce at any given time to
ensure smooth and continuous functioning of the human
body
Gamete (22-25, 29, 35-37,

40, 46, 51, 54, 82)
- Either a sperm or egg cell
- Passes genetic material from parent to offspring
- Originates from germ cells
- Haploid
- Sometimes known as a gonadal gamete
Germ cell (23, 25, 26, 36, 51,

77, 79)
- Reproductive cell of multicellular organisms
- Migrates to the sexual organs in the early embryonic stage
- Remains dormant until sexual maturity
Multipotent cell (26) - Can form a limited range of specialized cell types within a
tissue
Non-dividing cell (27) - Permanently exits the cell cycle under normal conditions
- Resides in the G0 phase
- Operates continuously without any interruptions
- Also known as a terminally differentiated cell
- Includes nerve cells in the brain, heart muscle cells. and
eye lens cells
Oogonia (23, 25) - Immature female gamete

- Diploid
- Undergoes gametogenesis
Pluripotent cell (27) - Can form into any of the 260 types of cells
- Cannot produce an entire functional organism
- Divided into one of three germ layers
Red blood cell (39, 42-44,

64)
- Studied by Karl Landsteiner
- Delivers oxygen to cells
- Glycoprotein attaches to its surface
- Both A and B antigens are expressed on its surface
Reproductively dormant cell

(27)
- Normally remains reproductively inactive
- Can re-enter the cell cycle under certain conditions
- Liver cells are reproductively dormant
Somatic cell (16, 18, 23, 26,

27, 31, 33, 50, 51, 76)
- Body cell
- Contains 46 chromosomes
- Diploid
- Can become a pluripotent stem cell
Spermatogonia (23, 25) - Immature male gamete

- Diploid
- Undergoes gametogenesis
Stem cell (11, 26, 29, 77) - Can form any of the 260 types of cells
- Replaces dead or non-functioning cells
- Can divide infinitely
- Can be used to treat Alzheimers and heart diseases
- Daughter stem cell can remain as a reserve stem cell or
become a specialized cell
Totipotent cell (26) - Can form any of the 260 types of cells
- Can produce an entire functional organism
White blood (53) - Studied by Friedrich Miescher
Zygote (11, 23, 25, 26) - Formed by the fusion of a sperm and egg cell
- Divides by mitosis to produce all of an adult humans
somatic cells
GENETICS TERMS
Allele (25, 31-33, 35-37, 39,

40-46, 52-54, 64, 80)
- One of several forms of a gene
- Usually found in pairs
- Can be either dominant or recessive
- Used by Mendel to describe the heritable factor that
controlled inherited traits
- Different forms arise due to mutation and evolutionary
adaptation
Autosome (32, 33, 45) - Non-sex eukaryotic chromosome

- Describes chromosomes 1-22
Carrier (39, 47, 48, 70, 77) - Inherits a genetic trait or mutation but does not express it
- Has a heterozygous dominant genotype for the trait or
mutation
Chromatid (18, 20-22, 24-26,

46)
- One copy of a duplicated chromosome produced during
DNA replication
Codon (60, 64, 65) - Group of three nucleotides in mRNA molecules

- Codes for a specific amino acid
- Comes in 64 possible types
Dihybrid cross (32, 33, 35,

37, 40, 45)
- Cross in which parents differ in two traits
- Mendel conducted this type of cross with round/wrinkled
and yellow/green peas
Diploid (20, 23-25, 27, 31-

33, 36)
- Cell with a full set of chromosomes (46 in humans)
- All somatic cells are diploid
Dominant (30-36, 39-43, 45,

49, 52)
- One of two forms of an allele
- Determines the phenotype when the organism has a
heterozygous genotype
- Written as a capital letter
Exons (60, 68) - Regions of DNA that code for proteins

- Form part of the mRNA molecule
- Sent to the ribosomes for protein synthesis
F1 generation (32-36, 40, 45,

51)
- Follows the P generation
- Short for first filial generation
- Always contains one, never both, traits from the P
generation
F2 generation (32-35) - Follows the F1 generation

- Product of self-fertilization in the F1 generation
- Displays a phenotype ratio of 3:1 if a monohybrid cross is
conducted
- Displays a phenotype ratio of 9:3:3:1 if a dihybrid cross is
conducted
Frameshift mutation (64) - Occurs when one nucleotide is added or deleted

- All subsequent codons are affected
- Could lead to significant changes in the amino acid
sequence
Gene (everywhere) - Set of nucleotides

- Codes for one or more proteins
Gene expression (67, 70, 81) - Process in which genetic information in DNA is converted
to a mRNA molecule, then a protein
- Can be regulated by siRNA
Genetic code (58, 60, 65, 68,

69, 80)
- Relates codons in mRNA to specific amino acids
- Consists of four letters (A, T, G, C)
- Studied by Thomas Cech and Sidney Altman
Genetic map unit (46) - Distance between any two genes on a chromosome
Genotype (31, 32, 39, 40, 42-

44, 47, 51-53, 80)
- Pair of alleles that determine a particular trait
- In a non-evolving population, dominant homozygous,
dominant heterozygous, and recessive homozygous
genotypes appear in a 1:2:1 ratio
Haploid (23-25, 27, 29, 32,

36, 37, 60, 76)
- Cell with half a full set of chromosomes (23 in humans)
Hardy-Weinberg equation
(52, 53, 80)
- p
2
+ 2pq + q
2
= 1, with p and q representing the
dominant and recessive alleles for a gene, respectively
Hardy-Weinberg equilibrium
(52, 53)
- Defines the conditions for a non-evolving population
- The population must be large to ensure minimal changes
in allele frequency
- No immigration or emigration can occur
- Population members mate randomly
- No new mutations occur
- No natural selection occurs
- If any of the Hardy-Weinberg equilibrium conditions are
not met, the population undergoes microevolution
Heterozygous (31-33, 35, 39,

52)
- Describes an individual with two different alleles at a
specific locus on a pair of homologous chromosomes
Homologous chromosomes
(24, 25, 31-33, 35-37)
- Pair of chromosomes with the same set of genes
- One chromosome in each pair comes from each parent
Homozygous (24, 25,31-33,

35-37)
- Describes an individual with two identical alleles present
on both homologous chromosomes
Human Genome Project (38,

76, 78, 81, 82)
- Sequenced the entire human genome
- Funded by the National Institutes of Health and the
Department of Energy
- Initiated in October 1990
- Completed in 2003 ahead of schedule and below budget
- Directed by James Watson and Francis Collins
- Affected almost all areas of society
Hybrid (7, 30-33, 35, 37, 40,

45, 61, 62)
- Offspring of two parents of different species
Introns (60, 63, 68) - Non-coding regions of DNA
Locus (31, 32, 36) - Genes location in the DNA molecule
Missense mutation (63) - Occurs when a single nucleotide substitution changes the
coded amino acid
Monohybrid cross (32-35,

40)
- Cross with parents differing in one trait
- Mendel conducted this type of cross with purple- and
white-flowered plants
Mutation (8, 26, 28, 29, 32,

36-39, 42, 44, 45, 47, 48, 51,
52, 54, 63-65, 76, 77, 79, 80,
82)
- Error in DNA replication
- Can be inconsequential, beneficial, or harmful
- Occurs randomly
- Probability of occurrence increased by many
environmental and metabolic factors
- Main source of genetic variation
Nonsense mutation (64) - Occurs when a single nucleotide substitution turns an

amino-acid-coding codon into a stop codon
P generation (32, 33) - First generation in an experiment

- Consists of purebred organisms
- Short for parental generation
Phenotype (31-33, 35-38,

40-45, 51, 52, 54, 76)
- Physical trait of an organism
- Controlled by one or more genotypes
- In a non-evolving population, dominant and recessive
phenotypes will appear in a 3:1 ratio
Polyploidy (54) - Occurs when organisms have more than two homologous
chromosomes
Population genetics (9, 35,

38, 51, 53, 80)
- Study of a populations genes and genotypes
Punnett square (40, 45-48) - Diagram that predicts the probability of an offspring
inheriting a specific genotype
- Developed by Reginald Punnett
Recessive (8,31-36, 38-43,

47, 49, 52, 64)
- One of two forms of an allele
- Only expressed under homozygous conditions
- Indicates the presence of a mutated gene
- Written as a lowercase letter
Segregation (8, 32, 35-37,

48, 54)
- Separation of alleles during meiosis
- Described by Mendels law of segregation
Self-fertilization (32, 33, 35) - Fertilization between the sperm and egg of the same
flower
Sex chromosome (8, 32, 33,

45, 46)
- Determines the offsprings sex
- Describes chromosome 23
- Contains linked genes
- Discovered in grasshopper chromosomes in 1910
Silent mutation (64) - Does not change the amino acid sequence being
translated
SNP (76, 77, 79) - Acronym for single nucleotide polymorphism

- Refers to a single point mutation
- Differentiates genomes among different human beings
- Can be cut by restriction enzymes
Start codon (60, 68) - Group of three nucleotides

- Signals the cell to stop translation
- Includes UAA, UAG, and UGA
Stop codon (60, 64, 68) - Group of three nucleotides

- Signals the cell to begin translation
- Also codes for methionine
- Includes AUG
Synapse (24) - Point at which two homologous chromosomes attach

during prophase I
Test cross (33, 36, 45) - Cross of a homozygous or heterozygous dominant

individual with a homozygous recessive individual
Tetrad (24) - Group of two pairs of homologous chromosomes

- Forms during prophase I of meiosis
- Randomly orients during metaphase I
- "Tetra" means "four" in Greek
True-breeding (30, 32) - Cross involving two parents with identical genotypes
- Produces offspring with identical genotypes as the
parents
- Describes the P generation of Mendels experiments
X chromosome (8, 45, 46,

47)
- One of the two human sex chromosomes
- Two X chromosomes create a female offspring
Y chromosome
199
(46, 47,
49)
- One of the two human sex chromosomes
- One X and one Y chromosome create a male offspring
- Contains fewer than 200 genes
- Controls sex determination and male fertility
- Carries the SRY gene
- Used to trace male lineage
PATTERNS OF INHERITANCE
Co-dominance (42-43, 49) - Occurs when multiple alleles can be expressed

simultaneously
Incomplete dominance (40-

42, 48)
- Occurs when no single allele is dominant or recessive
- Leads to a blending of the two alleles
- Crossing red and white flowers leads to pink offspring
Linked genes (8, 37, 44-46,

49)
- Genes that are located close together on the same
chromosome
- Discovered by William Bateson, Edith Saunders, and
Reginald Punnett
- Existence confirmed by Thomas Morgan and Alfred
Sturtevant
- Do not follow Mendels law of independent assortment
Pleiotropy (44, 49) - Occurs when a single gene controls multiple traits
Polygenic inheritance (44,

49)
- Occurs when multiple genes control a single trait
- Usually found in quantitative traits with a range of
continuous values
LAWS AND PRINCIPLES
Addition rule (33, 35) - One of the rules of probability used by Mendel
- Also known as the sum rule
- If two events are mutually exclusive
200
, then the probability
of either occurring is the sum of the probabilities of each
occurring individually
199
USAD states that the Y chromosome is the smallest (pg. 78 of the Resource Guide), but the National Institutes of Health website
points to chromosome 21 as the smallest.
200
Two events are mutually exclusive if they cannot occur at the same time. For example, flipping a coin will result in either heads or
tails, but not both. Mathematically speaking, if A and B represent two events, then P (A and B) = 0
Binomial theorem (33-35) - Algebraic theorem

- Describes the expansion of algebraic expressions with the
form (A + o)
n
- Mendel used this equation with n=2, in the form
(A + o)
2
= A
2
+ 2Ao + o
2
Chargaffs rule (58) - Developed by Edwin Chargaff

- States that adenine and guanine always pair with thymine
and cytosine, respectively
Law of dominance (35, 36,

48)
- States that, if two purebred parents are crossed, only one
form of the parents traits will appear in the offspring
- Developed by Mendel
Law of independent
assortment (8, 36, 37, 45, 48)
- States that alleles of different traits are distributed to sex
cells independently of one another
Law of segregation (8, 35-

37, 48)
- States that pairs of alleles separate and recombine during
fertilization
Multiplication rule (33, 36) - One of the rules of probability used by Mendel
- Also known as the product rule
- If two events are independent
201
, then the probability of
both occurring is the product of the probabilities of each
occurring individually
SCIENTIFIC WORKS
Experiments on Plant
Hybridization (36)
- Published by Mendel in 1866
- Described the results of his pea plant experiments
Genetics and the Origin of

Species (54)
- Published by Theodosius Dobzhansky
On the Origin of Species by

Means of Natural Selection
(50)
- Published by Charles Darwin in 1859
- Describes Darwins theory of evolution by natural selection
The Evolutionary Synthesis

(54)
- Published by Ernst Mayr
- Described the importance of synthesizing Mendelian
genetics and evolution
- Explained the connection between genetic variation and
evolutionary change
201
Two events are independent if the occurrence of one does not affect the probability of another. For example, rolling a 6 on the first
roll of a die does not affect the likelihood that you will roll a 6 the next time.
CELLULAR PROCESSES
Agglutination (42) - Clumping of red blood cells

- Occurs when antibodies attack antigens of the same
blood type
- Leads to red blood cell destruction
Asexual reproduction (19,

20, 22, 24, 29)
- Involves only one parent
- Does not require gamete fusion
- Usually produces genetically identical offspring
Autophagy (16) - Process in which lysosomes destroy and recycle the cells
worn structures
Binary fission (19, 20, 29) - Prokaryotic reproduction process

- Parent clones itself to create a genetically identical
daughter cell
- Form of asexual reproduction
Budding (20) - One form of eukaryotic asexual reproduction
Cell cycle (19, 20, 27-29, 73,

78, 82)
- Series of events in all eukaryotic cells
- Produces two daughter cells from one parent cell
- Divided into interphase and mitosis
- Requires 20 to 24 hours to complete
Cellular respiration (17) - Process in which cells break down food molecules and
transform them into energy
Cleavage (22) - Final splitting of the cell membrane during cytokinesis

- Contraction of microfilaments and microtubules
- Forms a cleavage furrow
Conjugation (71) - Transfer of DNA from one bacterium to another
DNA methylation (77) - Addition of a methyl group to the DNA phosphate-sugar

backbone
- May turn the gene on or off
- Prevents transcription from occurring properly if added to
a nucleotide
Endocytosis (16, 42) - Process in which solid and liquid particles enter the cell
- Cell completely engulfs the particle
Fertilization (23, 25, 26, 29,

30, 32, 35, 36, 48)
- Fusion of a haploid sperm and egg cell
- Produces a diploid zygote with half its genome from each
parent
Fission (19, 20, 29) - One form of eukaryotic asexual reproduction

Gametogenesis (23, 29) - Process in which spermatogonia and oogonia mature to

become gametes
- One step in this process is meiosis
Histone modification (78) - Caused by external environmental or chemical factors

- Can turn the gene on or off by binding the histones
tighter or looser around DNA
Meiosis (23-27, 29, 32, 36,

37, 40, 45, 50, 80
- Reproductive process of germ cells in multicellular
organisms
- Based on Mendels law of segregation
- One parent cell produces four daughter cells
Mitosis (7, 18-24, 27-29, 50,

80)
- Eukaryotic asexual reproduction
- More complex than binary fission due to presence of a
nuclear envelope and subcellular organelles
- Four major phases are prophase, metaphase, anaphase,
and telophase
Phagocytosis (17) - Process in which cells ingest solid particles

- Specific form of endocytosis
Photosynthesis (11, 17) - Process in which visible light synthesizes energy molecules
such as ATP and glucose
- Occurs only in plants and certain bacteria
Pinocytosis (17) - Process in which cells ingest liquid particles

- Specific form of endocytosis
Regeneration (20) - One form of eukaryotic asexual reproduction

- Cell division produces a new body or body parts
Sexual reproduction (19, 20,

22, 24, 29, 50, 60)
- Form of reproduction involving the fusion of two haploid
gametes
- Produces genetically diverse offspring
- Encourages the spread of beneficial traits that ensure a
species survival
Transcription (16, 65, 66-70,

78, 80)
- Transmission of genetic information from the DNA to a
mRNA molecule
- Involves the three steps of initiation, elongation, and
termination
Translation (16, 60, 65, 68,

70, 71, 79, 80)
- Another name for protein synthesis
- Final step in gene expression
- tRNA translates the DNA/RNA language into the
language of proteins
- Includes the three steps of initiation, elongation, and
termination
- Once complete, proteins are delivered to their final
destination or modified further in the endomembrane
system
PHASES OF THE CELL CYCLE
Anaphase (20, 22, 24, 25, 29,

37)
- One of the four major steps of mitosis
- Sister chromatids separate into individual chromosomes
- Kinetochore microtubules pull chromosomes towards
opposite poles until the poles have an equal number of
chromosomes
- Polar microtubules elongate the cell
Anaphase I (24, 37) - One of the four steps in meiosis I

- Homologous chromosomes separate
- Spindle microtubules pull the chromosomes towards the
poles
- Sister chromatids remain attached at the centromere and
move as a whole unit
Cytokinesis (19, 20, 22, 24,

25, 27, 29)
- Final step of mitosis
- In animal cells, the plasma membrane breaks into two
through cleavage
- In plant cells, membrane-bound vesicles containing
cellulose align and fuse to form a new cell wall
Early prophase (20) - One of two steps in prophase

- Involves the condensation of sister chromatids and
nucleoli disassembly
- Spindle microtubules push centrosomes toward opposite
poles
G0 phase (27) - Resting state

- Exists outside of the cell cycle
- Cells in this phase remain reproductively inactive
- Non-dividing and reproductively dormant cells are usually
found in this phase
G1 phase (20, 27, 29) - One of three phases in interphase

- All cytoplasmic organelles replicate
- RNA and protein synthesis occurs frequently
G2 phase (20, 24, 27, 29) - One of three phases in interphase

- Replicated subcellular organelles assemble
Interphase (20, 24, 27-29) - Consists of 90% of the cell cycle

- Includes the G1, S, and G2 phases
- Involves the synthesis and assembly of all non-genetic
organelles, molecules, and structures
Late prophase (20, 21) - One of the four major steps of mitosis
- Also known as prometaphase
- Nuclear envelope disassembles into vesicles
- Chromatids produce a kinetochore complex near the
centromeres
- Kinetochore microtubules separate the sister chromatids
- Polar microtubules elongate the cell and push the
centrosomes to the poles
Meiosis II (24) - Involves four major stages (prophase II, metaphase II,
anaphase II, and telophase II)
- Almost identical to mitosis, but involves non-identical
sister chromatids
- Produces four haploid cells
Metaphase (20-22, 24-26,

29)
- One of the four major steps of mitosis
- Chromosomes align along the center of the cell
- Kinetochore microtubules drag the chromatids to the
metaphase plate
- Polar microtubules elongate the cell
Metaphase I (24, 26) - One of the four steps in meiosis I

- Tetrads randomly orient at the metaphase plate
- Random and independent chromosome shuffling fosters
increased genetic diversity
Prophase (20-22, 24-26, 29) - One of the four major steps of mitosis
- Divided into early and late prophase
Prophase I (24) - One of the four steps in meiosis I

- Mitosis and meiosis are identical except for the events of
this phase
- Pairs of homologous chromosomes form tetrads
- Non-sister chromatids cross over to form synapses
- Maternal and paternal alleles exchange genetic
information at random locations on the chromatids
- Longest phase of meiosis
- Takes 90% of the total time for meiosis I and II
S phase (20, 24, 60, 73) - One of three phases in interphase

- Acronym for synthesis phase
- The parent cell genome replicates
- Individual chromosomes divide into two sister chromatids
linked by a centromere
Telophase (20, 22, 24, 29) - One of the four major steps of mitosis
- Almost the complete opposite of prophase
- New chromosomes begin to disperse
- Nuclear envelope reforms
- Spindle microtubules and centrosomes disintegrate
Telophase I (24) - One of the four steps in meiosis I

- All 23 chromosomes migrate to the location of the
daughter cells future nucleus
- Cytokinesis occurs briefly before meiosis II begins
ENVIRONMENTAL PROCESSES
Allopatric speciation (53) - Formation of a new species through geographic isolation
Gene shuffling (22) - Exchange of genetic material between different cells or

organisms
- First occurred 2 billion years ago
Genetic drift (54) - Random change in a populations allele frequency
Microevolution (53, 54, 64,

80)
- Occurs when a populations allele frequency changes
Speciation (53, 64) - Process leading to the creation of a new species

- Also known as macroevolution
Sympatric speciation (54) - Formation of a new species when both the old and new
species share the same geographic region
- Occurs in plants
- Can be caused by polyploidy or meiotic errors
DISEASES AND DISORDERS
Albinism (44) - Occurs when a gene that codes for a melanin-producing

enzyme mutates
- Example of pleiotropy
Alkaptonuria (38) - Also known as black urine disease

- Discovered by Dr. Archibald Garrod in 1902
- First disease linked to genes
- Occurs when a gene that codes for an amino acid
metabolism enzyme mutates
- Leads to excessive metabolite
202
in the blood and urine
- Damages cartilage, heart valves, and kidneys
- Garrod called this disease an inborn error of metabolism
- Urine of patients with this disease turns dark brown upon
exposure to oxygen
Breast cancer (44) - Individuals that carry BRCA1 or BRCA2 are at increased
risk for this disease
- Individuals with two or more close relatives that suffered
from this disease are also at risk
Cancer (5, 27-29, 44, 49, 64,

70, 78)
- Disease caused by abnormally rapid cell growth
- Results when oncogenes or other cell-cycle related genes
mutate
Colorblindness (47, 49) - Example of polygenic inheritance

- First described by John Dalton in 1794
- Most common form is red-green
- Caused by a recessive allele on the X-chromosome
- Affects more males than females (10:1 ratio)
Cystic fibrosis (39, 48, 79) - Most common deadly genetic disease affecting
Caucasians in the United States
- Affects one in 2,500 people with Northern or Central
European ancestry
- Occurs when a gene that codes for a protein channel on
the cell surface mutates
- Leads to mucus accumulation in the lungs and digestive
system
- Can cause infections and digestion problems
- Dr. Francis Collins directed the project that sequenced the
gene controlling this disease in 1999
202
More specifically, homogentisic acid and alkapton
FH (41) - Acronym for "familial hypercholesterolemia"

- Occurs when the bloodstream contains unusually high
cholesterol levels
- Inherited as an autosomal dominant trait
- Leads to heart attacks in people as young as 20
- Causes heart disease and hypertension later in life
- Afflicts 1 in 500 Americans, including 14-year old J.D.
Ovarian cancer (44) - Individuals that carry BRCA1 or BRCA2 are at increased
risk for this disease
Sickle-cell anemia (39, 48,

49, 64)
- Most common genetic disease in the United States
- Affects one in 400 African Americans
- Occurs when a single nucleotide substitution adds the
wrong amino acid to hemoglobin
- Red blood cells become sickle-shaped and cannot fit
through the capillaries
- Can lead to multiple organ failure
Tay-Sachs disease (39) - Affects one in 3,500 Ashkenazi Jews

- Occurs when a single gene mutation alters a lipid
metabolism enzyme
- Neural impulses cannot be transmitted correctly
- Leads to paralysis, blindness, deafness, and other
neurological disorders
Type I diabetes (75) - Occurs when an individuals pancreas cannot produce

insulin
- Treated with insulin injections
Type II diabetes (75) - Occurs when an individuals body cells do not respond to
insulin
- Treated with insulin injections
PHYSICAL TRAITS
Blood type (42, 43) - Example of a co-dominant trait

- Both alleles are expressed simultaneously
- The gene that controls this trait codes for glycoproteins
on the red blood cell surface
Earlobe attachment (38) - Example of a human trait controlled by one gene
Flower color (33, 34, 45, 51,

52)
- One of seven traits Mendel investigated in pea plants
- One of two traits investigated by Edith Saunders, Reginald
Punnett, and William Bateson
Flower position (30) - One of seven traits Mendel investigated in pea plants
Fruit fly eye color (45, 46) - Thomas Morgan studied this trait in fruit flies
- Can be either red or white
- Alleles for this trait are linked to the offsprings sex
- An X-chromosome mutation triggers white eye color
Hitchhikers thumb (38) - Example of a human trait controlled by one gene
Human eye color (47) - Example of polygenic inheritance
Human height (44) - Example of polygenic inheritance

- Can be influenced by nutrition, hormone levels, and other
environmental factors
Human skin color (44) - Example of polygenic inheritance
Pea shape (30) - One of seven traits Mendel investigated in pea plants
Pea color (30) - One of seven traits Mendel investigated in pea plants
Pea pod color (30) - One of seven traits Mendel investigated in pea plants
Pea pod shape (30) - One of seven traits Mendel investigated in pea plants
Pea pollen grain shape (44) - One of two traits investigated by Edith Saunders, Reginald
Punnett, and William Bateson
Plant height (30, 33) - One of seven traits Mendel investigated in pea plants
Rh factor (43, 44) - Antigen found on the red blood cell surface
- Used as a form of blood typing
- First identified in the Rhesus monkey
- Can be either positive (+) or negative (-)
- Rh positive dominates over Rh negative
Sex (46) - Determined by the presence of the Y chromosome and

the SRY gene in humans
- Determined by the number of X chromosomes in fruit flies
Widows peak (38, 43) - Example of a human trait controlled by one gene
BLOOD TYPES
A (42, 43) - Occurs when individuals have two A alleles or one A and
one O allele
- Has A antigens on red blood cells
- Blood produces anti-B antibodies
- Can accept type A and AB blood
- Can donate blood to type A and O individuals
AB (43) - Occurs when individuals have one A and one B allele

- Has both A and B antigens on red blood cells
- Blood produces no antibodies
- Can accept any type of blood
- Can donate blood to type AB individuals
- Example of co-dominance
B (42, 43) - Occurs when individuals have two B alleles or one B and
one O allele
- Has B antigens on red blood cells
- Blood produces anti-A antibodies
- Can accept type B and AB blood
- Can donate blood to type B and O individuals
O (43) - Occurs when individuals have two O alleles

- Has no antigens on red blood cells
- Blood produces anti-A and anti-B antibodies
- Can accept type O blood
- Can donate to anybody
Rh- (43) - Individuals with this blood type do not have the Rh factor
expressed on the red blood cell surface
Rh+ (43) - Individuals with this blood type have the Rh factor
expressed on the red blood cell surface
APPLICATIONS OF GENETICS
ABO blood typing (42, 43,

49)
- Discovered by Karl Landsteiner
- Most common form of blood typing
- Used to identify phenotypes in paternity legal cases until
1984
- Rejected as courtroom evidence in the 1943 Barry/Chaplin
case
Agarose gel electrophoresis

(75, 76)
- Technique used to separate DNA fragments
- Forms a pattern of DNA fragments unique to each
individual
- Used in RFLP
Amniocentesis (48) - One of two ways doctors can perform a karyotyping on a

fetus
- Uses a needle to extract fetal cells within the fluid part of
the fetal membrane
Biotechnology (71, 75) - Use of molecular biology to manufacture useful products,

improve human life and tackle environmental challenges
CVS (48) - Acronym for chorionic villus sampling

- One of two ways doctors can perform a karyotyping on a
fetus
- Doctors directly remove part of the fetal membrane
- More invasive than amniocentesis
Epigenetics (5, 77, 81) - Study of chemical and environmental factors that affect
genes
Functional genomics (80) - Study of the biological functions of genes and gene
products
- Investigates how DNA and proteins interact
GMOs (76, 77) - Acronym for genetically modified organisms

- Used to increase crop quality and production and facilitate
biomedical research
- Can pose risks to human health, other species, and the
environment
Karyotyping (48) - Chromosomal analysis test

- Can identify the genetic disorders of offspring in utero
- Doctors extract fetal cells
PCR (73, 76, 79) - Acronym for polymer chain reaction

- Method of mass-producing DNA
- One of the most commonly used molecular biology
procedures
- Developed by Kary Mullis in the 1980s
- Involves the three steps of denaturation, annealing, and
extension/elongation
- Requires genomic DNA, primers, Taq polymerase, and four
types of nitrogenous bases
- Used in RFLP
Pedigree (48) - Diagram that traces a phenotype over many generations
RFLP (75) - Acronym for restriction fragment length polymorphism

- Standard law enforcement procedure for establishing
evidence needed to convict or exonerate criminal suspects
- Also known as DNA fingerprinting
- Involves PCR, restriction enzyme digestion, and agarose
gel electrophoresis
- Used in paternity and maternity disputes
- Used to identify individuals
Transgene (77) - Gene transferred from one species to another through

recombinant DNA techniques
ORGANS
203
Endometrium (44) - Inner epithelial lining of the uterus
Fallopian tubes (17) - Lined with ciliated

204
cells
Kidneys (39) - Produces erythropoietin when blood oxygen levels are low
Ovaries (23, 26, 47) - Female reproductive organ
Pancreas (73) - Produces insulin in humans
Petiole (44) - Stalk that attaches the leaf to the plant stem
Placenta (44) - Organ found in pregnant female animals

- Nourishes the fetus and eliminates fetal waste
Testis (9, 23, 47) - Male reproductive organ

- Gonadal germ cells mature into gametes in this organ
Trachea (17) - Also known as the windpipe

- Lined with ciliated cells
GENES
BRCA1/BRCA2 (44) - Acronym for breast cancer 1 and breast cancer 2

- Having this gene increases the risk of breast and ovarian
cancer
- Found in less than one percent of humans
- Causes less than 10% of breast cancer cases
Oncogene (28) - Gene that stimulates cell proliferation

- Cancer results when this gene mutates or activates
abnormally
SRY (47) - Acronym for sex reversal Y

- Activates the development of testes and other male
genitalia
- If this gene is not present, female sex hormones activate
the production of ovaries
203
Not just human organs, of course
204
Ciliated cells are cells that have cilia projecting from the cell body.
LABORATORY TECHNIQUES
Centrifugation (58, 61) - The process of spinning a sample around an axis at high
speed
- Separates a samples contents based on size, density, and
weight
- Used by Hershey/Chase and Meselson/Stahl
Paper chromatography (58) - Separates and isolates substances in a mixture based on

their physical and chemical properties
- Used by Edwin Chargaff
X-ray crystallography (58) - Uses X-rays to determine a crystallized molecules

shape
205
- Used by Rosalind Franklin
TIME PERIODS
10 hours (19) - Time required for one bacterium to produce 1 billion bacteria
20 minutes (19, 61, 62, 75) - Time required for a bacterium to produce two daughter cells
20 to 24 hours (20) - Time required for one complete cell cycle
Two months (47) - Length of human gestation before sex differentiation begins
205
In this technique, an X-ray beam is shot at a molecular crystal. The resulting diffraction pattern can be used to reconstruct the electron
density, allowing scientists to build a model of the molecular structure.
The Development of Pre-Mendelian Genetics
5
th
century B.C. Hippocrates develops the pangenesis theory
350 B.C. Aristotle publishes History of Animals and Generation of Animals
1665 Robert Hooke publishes his observations of cells in Micrographia and uses the word cell
for the first time to describe the structure of cork
1674 Anton von Leeuwenhoek studies microbiological specimens through microscopes
1695 Nicolaas Hartsoeker illustrates homunculus in a sperm cell
1730s Carolus Linneaus develops the first taxonomic system
1760s Joseph Kolreuter is the first to systematically study genetic crosses (using tobacco plants)
1794 John Dalton describes red-green colorblindness
1809 Jean-Baptiste Lamarck proposes his theory of the inheritance of acquired traits
1831 Robert Brown is the first to describe and name the nucleus
1838 Matthias Schleiden theorizes that the nucleus plays a role in cellular reproduction
1838-39 Matthias Schleiden, Theodor Schwann, and Rudolf Virchow develop the cell theory
1858 Charles Darwin and Alfred Russel Wallace present their ideas on evolution by natural
selection to the Linnean Society of London
1859 Charles Darwin publishes On the Origin of Species by Means of Natural Selection
The Life of Gregor Mendel
Time Event
1847 Mendel is ordained as a minister and begins work at a monastery in Brno
1854 Mendel begins his experiments with pea plants
1865 Mendel concludes his experiments with pea plants
1866 Mendel publishes Experiments on Plant Hybridization
1868 Mendel is elected to the position of prelate
1884 Mendel dies
Modern Genetics
1869 Friedrich Miescher discovers nucleic acid in white blood cells
1875 Robert Koch links microorganisms and infectious disease
1878 Walther Flemming observes and describes chromosomal behavior during mitosis
1889 August Weismann proposes the germ-plasm theory of heredity
1889 Hugo de Vries theorizes that pangenes are responsible for passing traits from one
generation to the next
1900 Carl Correns, Hugo de Vries, and Erich von Tschermak independently rediscover and confirm
Mendels laws of inheritance
1900 Karl Landsteiner discovers the ABO blood typing system
1901 Albrecht Kossel identifies the five nucleotides in DNA and RNA
1902-03 Udny Yule and William Castle observe and analyze the constant allele frequency in non-
evolving populations
1902 Archibald Garrod discovers the first genetic disease (alkaptonuria)
1902 Walter Sutton and Theodor Boveri propose the chromosome theory of inheritance after
observing chromosomal segregation during meiosis
1905 Konstantin Mereschkowki proposes the endosymbiosis theory
1905 Edmund Wilson discovers the arrangement of human sex chromosomes Wilson and Nettie
Stevens determine the differences between male and female sex chromosomes
1905 William Bateson discovers linked genes first uses the word genetics
1908 G.H. Hardy and Wilhelm Weinberg independently develop the Hardy-Weinberg theorem
1910-11 Thomas Hunt Morgan conducts his studies of fruit flies and proposes that certain traits are
linked to sex chromosomes confirms the chromosome theory of inheritance
1913 Alfred Sturtevant and Thomas Morgan create the first gene linkage map
1913 Estella Carothers provides cytological evidence of the independent assortment of
chromosomes through her observations of grasshopper testis
1918 R.A. Fisher, Sewall Wright, and J.B.S. Haldane launch the modern synthesis of evolution with
their work, The Correlation between Relatives on the Supposition of Mendelian Genetics
1919 Phoebus Levene identifies deoxyribose in DNA molecules
1928 Frederick Griffith conducts studies of virulent and non-virulent strains of bacteria and coins
the term transforming principle
1938 Theodosius Dobzhanksy unites genetics and evolutionary biology with his work Genetics and
the Origin of Species
1940 G. Ledyard Stebbins proposes polyploidy as a method of sympatric speciation
1942 Ernst Mayr proposes the biological species concept
1944 Oswald Avery, Colin MacLeod, and Maclyn McCarty demonstrate DNA as the genetic material
1950s Werner Aber discovers restriction enzymes
1950 Erwin Chargaff proposes the base pairing rules that bear his name
1951 Rosalind Franklin uses X-ray diffraction to capture images of DNA molecules
1952 Alfred Hershey and Martha Chase disprove the idea that proteins carried genetic material
1953 Francis Crick and James Watson discover the double helix structure of DNA
1953 Stanley Miller and Harold Urey demonstrate the formation of organic molecules from non-
organic molecules present on the early Earth
1958 Matthew Meselson and Frank Stahl prove the semiconservative model of DNA replication
1958 Arthur Kornberg and Severo Ochoa isolate DNA polymerase I from E. coli
1960s Thomas Brock discovers thermophlic bacteria in Yellowstone National Park, which leads to the
discovery of Taq polymerase used in PCR
1985 Kary Mullis is the first to describe the polymerase chain reaction
1990
206
The Human Genome Project begins
1999 Scientists sequence the cystic fibrosis gene
2003 The results of the Human Genome Project are published
RNA Molecules
rRNA Nucleic acid that clusters with proteins to form ribosomes
mRNA Nucleic acid that carries genetic information from the nucleus to ribosomes
tRNA Nucleic acid that is involved in protein synthesis
ribozyme Self-splicing nucleic acid; involved in protein synthesis and post-transcription RNA processing
miRNA Leftover products spliced from mRNA after transcription; can defend against DNA/RNA
viruses and may be involved in cancer formation
siRNA Leftover products after enzymes digest certain double-stranded RNA molecules
Equations
Hardy-Weinberg
equation
p
2
+ 2pq + q
2
= 1
Multiplication
rule
P (A onJ B) = P(A) P(B)
Addition rule P (A or B) = P(A) + P(B)
Binomial
theorem
(A + B) (A - B) = A
2
+ 2AB + B
2
206
USAD states the HGP was launched in 1988 in the timeline, but that it officially launched in October 1990 on page 78.
Cell Basics
Cell Organelles
Characteristics of All Cells
Surrounded by a plasma
membrane
Contain genetic material
Produce carbohydrates,
lipids, proteins, and
nucleic acids
Contain subcellular
structures with distinct
functions
Domains of Life
Eukarya Bacteria Archaea
Cytosol
Subcellular
Organelles
Cytoplasm
Plasma
membrane
Cytoplasm Organelles
Eukaryotic
cell
Nuclear
membrane
Endoplasmi
c reticulum
Golgi
apparatus
Vesicles
Endomembrane
system
Microtubules
Intermediate
Filaments
Microfilaments Cytoskeleton
Cell Theory
Cells are the
basic units of
life
Cells make up
all living
organisms
All cells come
from pre-
existing cells
Transportation Recognition
Signal transmission Enzymatic reactions
Functions of
Protein
Molecules
Eukaryotic
Kingdoms
Protista Animalia Plantae Fungi
Microtubules
Act as the cells skeletal system and
provide intracellular support
Transport molecules within the cell
Serve as spindle fibers during meiosis
Ease cellular movement by acting as cilia
and flagella
Largest of the cytoskeletal elements
Intermediate
Filaments
Cage-like filaments
Stabilize and maintain the position of
organelles
Molecular configuration is similar to the
steel cables of suspension bridges
Microfilaments
Resemble strings of beads
Provide strength, mobility, and shape to the
cell
Involved in phagocytosis (cell eating),
pinocytosis (cell drinking), muscle
contraction, and cell movement
Thinnest of the cytoskeletal elements
Mitochondria
Found in animal cells
Produce adenosine
triphosphate (ATP)
through cellular
metabolism
Mitochondria and
chloroplasts
Replicate
independently and
survive on their own
Contain their own
circular DNA separate
from the nucleus
Contain prokaryotic-like
ribosomes
Enclosed by a double-
layered membrane
Chloroplast
Found in plant and
photosynthetic protist
cells
Contain chlorophyll
Transform solar energy
into ATP
Roles of the
Cytoskeleton
Support and
maintain cell
shape
Ease protein
transport
within the
cell
Interact with
extracellular
anchor
structures
Anchor
internal
organelles
Ease cellular
movement
Cilia
Small projections
from the cell's
surface
Used by cells in
the trachea and
fallopian tubes
Flagella
One or two tails
Move by lashing
back and forth
Used by sperm
cells
Cellular Reproduction
Central
Vacuole Jobs
Support the cell
wall
Maintain cellular
rigidity
Store wastes,
toxins, and
pigments
Ensure balanced
levels of salt in
cytoplasm
Eliminate excess
water
Tasks of subcellular organelles during cellular reproduction
DNA replication Organelle duplication
Relocation of
duplicated organelles
Distribution of
duplicated organelles
Binary Fission
DNA replication creates two DNA loops
The loops attach to the plasma membrane
The cell expands and elongates
The plasma membrane pinches and splits
Two identical daughter cells are formed
Binary fission is
simple
Absence of membrane enclosing DNA
Simple cytoplasmic structure
Single DNA molecule
Presence of multiple chromosomes
Presence of nuclear envelope surrounding
chromosomes
Larger number of subcellular organelles Creation of a new cell wall in some organisms
What makes eukaryotic cell division
complex?
Methods of eukaryotic asexual reproduction
Fission Mitosis Regeneration Budding

Chromatin condensation Nucleoli disappearance
Nuclear envelope fragmentation Spindle fiber formation
Cellular processes in meiosis prophase I
Nuclear
envelope
disappears
Spindle fibers
form and
attach to
kinetochores
Prophase II
Sister
chromatids
align at the
metaphase
plate
Metaphase II
Centromeres
split
Each
chromosome
towards the
poles
Anaphase II
Chromosomes
decondense
Nuclear
envelope
reforms
Telophase II
Cytoplasm
divides
Meiosis II ends
with four
haploid
daugher cells
Cytokinesis
The dispersed sister chromatids condense
The nuclei disassembles
rRNA production stops
The centrosomes migrate towards the poles
Spindle microtubules from the microtubule organizing center push
away the two centrosomes
Early Prophase
The nuclear envelope breaks into vesicles
Spindle microtubules interact with the chromosomes
Each sister chromatid builds a kinetochore near the centromere
The kinetochore microtubules separate the sister chromatids
Polar (or non-kinetochore) microtubules begin to elongate the
cell and push the centrosomes to the opposite ends of the cell
Late Prophase
(Prometaphase)
All chromosomes line up in the metaphase plate in the middle
of the cell
The kinetochore microtubules pull the sister chromatids
towards the cell's center
Polar microtubules continue to elongate the cell
Metaphase
"Adhesive proteins bonding the sister chromatids turn off
The centromere splits in two, and the chromatids are now two
individual chromosomes
The kinetochore microtubules pull the chromosomes towards
the poles
Polar microtubules continue to elongate the cell
Anaphase
The cell seeks to return to equilibrium
Chromosomes unwind and disperse
The nucleolus and nuclear envelope reassembles
The spindle microtubules and centrosomes break down
Telophase
Mutations
Silent
One nucleotide
substitutes for
another
The codon codes
for the same
amino acid
Missense
Nucleotide
substitution
changes the coded
amino acid
Nonsense
Nucleotide
substitution
produce a stop
codon
Frameshift
One nucleotide is
added or deleted
All subsequent
codons are
affected
Types of Cells
Types of
mutations
Translocation
Inversion
Substitution
Addition
Deletion
The Cell Cycle
Dividing cells
Skin cells
Intestinal epithelial cells
Uterine endometrial cells
Non-dividing cells
Nerve cells in the brain
Hair cells in the ear
Heart muscle cells
Lens cells in the eye
Reproductively dormant
cells
Liver cells
G1 phase
Cell Size
Nutrient
availability
Growth
DNA damage
G2 phase
Cell size
DNA replication
M phase
Spindle fiber
attachment to
chromosomes
Mendel's Experiments
If two events are independent, then the probability that
they both occur is the product of the probabilities of each
occurring
P A onJ B = P A P(B)
Multiplication Rule
If two events are mutually exclusive, then the probability
of either event occuring is the sum of the individual
probabilities
P (A or B) = P(A) + P(B)
Addition Rule
A +B A - B = A
2
+ 2AB + B
2
Binomial Theorem
Easy to grow Reproduce quickly
Easy to manipulate
pollination
Easy to describe and
distinguish traits
Why pea plants?
Pea Plant
Traits
Plant height
Flower position
Flower color
Pod shape
Pod color
Pea shape
Pea color
Mendelian Genetics
Genetic Diseases
Two main categories of chromosomes
Non-sex chromosomes (autosomes)
Chromosomes 1-22
Sex chromosome
Chromosome 23
Cystic
fibrosis
A gene that codes for a channel protein on the cell surface mutates
The protein channel ceases to function
Thick and sticky mucus lines the lungs and digestive system
Lung infections and digestive problems result
During gamete
formation...
Homologous
chromosomes
separate during
anaphase I
Alleles are split
Spem and egg cells
become haploid
Diversity in the Pattern of Inheritance
Blood
Type
Possible
Genotype
Antigens in
Red Blood Cell
Antibodies
in Serum
Can Donate
Blood To
Can Receive
Blood From
A AA or AO A Anti-B A, AB A, O
B BB or BO B Anti-A B, AB B, O
AB AB A and B None AB AB, O
O OO None Anti-A and
Anti-B
A, B, AB, O
207
O
207
This is why people with type O blood are known as universal donors
Sickle
cell
anemia
Point mutation occurs
Protein in the hemoglobin molecule folds incorrectly
Red blood cell distorted from a donut into a sickle shape
Red blood cells can no longer squeeze th rough capillaries
Lack of oxygen leads to multiple organ failure
Tay-
Sachs
disease
Single gene mutation alters a lipid metabolism enzyme
Abnormal lipid coats surround brain cells
The brain cannot transmit neural impulses correctly
Paralysis, blindness, and deafness can result
Factors that influence
an embryo's gender
Genetics
Temperature Social Structure
Environmental
Chemicals
Evolution
Characteristics of a Non-Evolving Population
The Hardy-Weinberg Equation
p
2
+ 2pq + q
2
= 1
2u8
Term What does it describe?
p
2
the frequency of the homozygous dominant phenotype
2pq
the frequency of the heterozygous dominant phenotype
q
2
the frequency of the homozygous recessive phenotype
208
Look familiar? The Hardy-Weinberg equation is identical to the one Mendel used to find the genotype ratio of his pea plants.
Characteristics of a Non-Evolving Population
Large population
Few physical
mutations
No migration or
random events
Equal
reproductive
success
Random mating
Conditions for
Hardy-Weinberg
equilibrium
Large
population
No new
mutations
Random
mating
No natural
selection
No migration
Pre-
Darwinian
Theories
of
Evolution
Pangenesis
Blending Inheritance
Lamarck's theory
Darwin's
Theory
Descent with
modification
Excess offspring in each
generation
Natural selection of
favorable variations
Genetic Material
Dobshansky helped
shape the modern
synthesis of evolution
defined evolution as a change in allele frequency within a
gene pool
suggested that mutation was the main force behind
evolution by natural selection
Produce
both male
and female
offspring
Offspring
are viable
and fertile
Ernst
Mayr's
definition
of a species
Causes of
Evolution
Genetic Drift
Population
migration
Natural selection
Non-random
mating
Adenine Cytosine
Thymine Guanine
Nitrogenous Bases in
Nucleic Acid
Genetic Code
A T G C
Components of
DNA
Phosphate
Pentose sugar
Four nitrogenous
bases
The new DNA molecule consists of two
new strands
Conservative
replication
The new DNA molecule consists of one old
and one new strand
Semi-conservative
replication
The new DNA moelcule consists of a mix
of old and new strands
Dispersive
replication
Enzymes involves in DNA Replication
Acts as an unzipper
Initiates DNA replication by unwinding the double helix
Forms a replication fork and bubble
Helicase
Synthesizes new RNA primers
Atttaches these RNA primers to the replicating strands of DNA
Primase
Serves as builder and proofreader
Continually adds complementary nucleotides to the daugher DNA
moelcule
DNA polymerase
Acts as an editor
Removes incorrect nucleotides
Nuclease
Acts as a zipper
Fills in holes in the new DNA molecule backbone with phosphate
DNA ligase
RNA
Helicase unzips
the parent DNA
molecule
DNA primase
synthesizes an
RNA primase
enzyme
The RNA
primase
attaches to the
end of the DNA
strand
DNA polymerase
synthesizes the
complementary
strand of DNA
DNa
fragments
replace the
RNA primase
DNA ligase "rezips"
the new DNA
fragment to the
parent
Double stranded
Deoxyribose
backbone
Larger in size
Only role is to
store genetic info
Single stranded
Ribose backbone
Smaller in size
Has roles in many
cellular functions
D
N
A
R
N
A
Stands for ribosomal RNA
Made in the nucloeolus
Combines with proteins to form ribosomes
rRNA
Stands for messenger RNA
Produced by DNA transcription
Carries genetic information to the ribosomses for translation
mRNA
Stands for transfer RNA
Carries a specific amino acid
Complements the nucleotides in mRNA
tRNA
Termination
The RNA strand separates from the DNA template once it reaches a termination factor
Elongation
Nucleotides are added to the RNA strand
Initiation
RNA polymerase binds the promoter region
Three Phrases of Transcription
Three phases of translation
mRNA binds to a small ribosomal subunit
The first tRNA carrying methionine binds to the start codon on the mRNA
A large ribosomal subnit binds to the smaller to create a P site
The tRNA can then "dock" at this site
Initiation
The next tRNA docks at the A site
The new amino acid forms a peptide bond with the first amino acid
The first tRNA exits the ribosome
The second tRNA moves from the A site to the P site, allowing the next tRNA to enter
Elongation
The translation process ends when a stop codon is encounters
The peptide chain detaches from the ribosome
The ribosomal complex disassembles
Termination
Modern Molecular Genetics
Polymerase Chain Reaction
Denaturation
The starting reaction mixture includes genomic DNA, primers, and the four types of nucleotides
This mixture is heated to 95 C
The hydrogen bonds break, separating the two strands of DNA
Annealing
The mixture is cooled to between 50 and 60C
The primers bind to their respective complementary sequences on the individual DNA strands
Extension (Elongation)
The mixture is heated to between 72 and 80C (the optimal temperature for Taq polymerase)
The polymerase is added to the mixture
Primers initiate the continued addition of nucleotides to the DNA strands
Agarose gel is placed in a
electric field with a buffer
The restriction-digested DNA
fragments are placed in a well
DNA migrates towards the
positive pole of the electric field
A ladder pattern of DNA bands
form
PRACTICE TEST ANALYSIS
To benefit the most from this analysis, please make sure that youve taken the USAD Science Practice test before
you proceed. The following will be a section-by-section breakdown of the test.
The cell cycle, the cell cycle, the cell cycle. USAD really drives home the process of cellular reproduction when
testing knowledge from Section I. Its important to know the key events that occur during each phase of the cell
cyclethe subject of questions 2, 3, 20, and 49. These are simple recall questions that you should know and
expect to be tested on at all levels of competition. Section I questions also examine key contrasts between plant
and animal cells (question 4) and between prokaryotes and eukaryotes (questions 9 and 31). Be on the lookout
for places in the resource guide where USAD emphasizes the similarities and differences in structure and processes
of two different types of cells. In general, section I questions strike a balance between testing the big ideas and the
specifics, with no question standing out as especially difficult.
As expected, Section II tests the basic concepts of genetics, especially the different patterns of inheritance and key
terms (homozygous and heterozygous, dominant and recessive, among others). Be able to link these patterns of
inheritance with the examples USAD gives in the resource guide (co-dominance and ABO blood typing were
tested in two separate questions, for instance). Many of these questions are a paragraph long, describing real-world
context (questions 25, 30, 46, 47). Dont let the specific details of the paragraph confuse youjust pay attention
to what the question is asking for, which is usually a basic principle of Mendelian genetics. Other questions only
ask for a definition (questions 34 and 41). Question 8 is one of the trickier Section II questions, as answer choice
(e) immediately draws the attention of most Decathletes. However, remember that humans have 22 autosomes
plus a pair of sex chromosomes (XX or XY), making (d) the correct answer. Question 16 is another stumper, as
USAD does not explicitly state the correct answer in the resource guide. You can, however, deduce the correct
answer by recalling that women have two X chromosomes and men have one X and one Y chromosome. The
mom has to provide an X chromosome to the baby, so its up to the dad to provide either an X (making the baby
a girl) or a Y (making the baby a boy). Fully understanding Section II is vital to scoring high on this years science
testits the common thread that links all three of the sections together.
Questions on Section III emphasized DNA, RNA, and applications of genetics, with questions covering
epigenetics, GMOs, and various characteristics about DNA and RNA. The Hardy-Weinberg theorem and
equation appear to be important topics, as USAD devoted questions 11 and 12 to them. Questions about types
of mutations could be especially tough, as they are pure memory-based questionsmake sure to emphasize
remembering the differences between these types in the days leading up to the competition. The Practice Test
noticeably neglected the numerous scientists that were involved in the modern evolutionary synthesis and the
discovery of DNA (except question 37, which tested Watson and Crick as the discoverers of DNAs double helix
model)expect to see more of these questions at the actual competition.
Overall, the USAD Science Practice Test seemed to emphasize knowledge recall much more than critical thinking
or synthesis of concepts. I expect to see fewer such questions on future tests, with more compare/contrast questions
(DNA and RNA, anyone?), problem-solving questions that ask you to draw Punnett squares and find certain
probabilities, and questions about the various geneticists and other scientists, especially the post-Mendel ones.
Without doubt, USAD makes clear that there are several key subject areas that you need to know forwards,
backwards, and upside-down. These include cellular structures and the cell cycle, the basic principles of Mendelian
genetics, including Mendels three laws, and the list of genetics terms found on page 33 of the Resource Guide.
Q # Topic
USAD
PAGE #
Q # Topic
USAD
PAGE #
1 Mitosis 20 26
Applications of
genetics
77
2 Cell cycle 20 27 Inheritance patterns 42
3 Mitosis 21 28 Inheritance patterns 43
4 Mitosis 22 29 Cell structure 11
5 Meiosis 25 30
Applications of
genetics
76
6
Applications of
genetics
40 31 Cell structure 15
7 Mendelian genetics 33 32 Cell structure 18
8 Human genome 33 33 Mendelian genetics 33
9 Cell structure 13 34 Mendelian genetics 31
10 Modern synthesis 52 35 Mendelian genetics 36
11 Modern synthesis 53 36 Mendelian genetics 33
12 Mendelian genetics 32 37 DNA 60
13 Mendelian genetics 31 38 Protein synthesis 60
14 DNA 58 39 Protein synthesis 69
15 Human genome 33 40 Cell cycle 20
16 Human genome 47 41 Mendelian genetics 31
17 Human genome 47 42 Inheritance patterns 40
18 Human genome 76 43 Protein synthesis 68
19 Inheritance patterns 41 44 Mutations 64
20 Meiosis 27 45 Mendelian genetics 33
21 DNA 55 46 Mendelian genetics 39
22
Applications of
genetics
48 47 Mutations 64
23 Mendelian genetics 34 48 Protein synthesis 67
24 Modern synthesis 51 49 Protein synthesis 67
25
Applications of
genetics
77 50 RNA 65
ABOUT THE AUTHOR
Eric Yang fits the typical Honors decathlete mold quite well.
Well, maybe not so much.
He joined Academic Decathlon as a freshman after he came to the
difficult realization that he wasnt quite up-to-par while competing
the track-and-field decathlon. Ever since then, hes been hooked by
the combination of late-night discussions on The Grapes of Wrath,
debates about the impact of European imperialism, and the
consumption of ramen noodles out of a coffee maker. This year, Eric
will be a senior at The Colony High School, hoping to bring lasting
glory and fame to his AcDec team and school once and for all.
His Honors mentality extends to the rest of his lifestyle, where he
meticulously keeps a multicolored pen and half a dozen sharpened
pencils with him at all times, he uses the philosophy of Locke and Hobbes to argue about the relative merits
of school lunch, and he constantly plays Civilization IV in order to prove that the Ottoman Empire could
have (and should have) conquered Vienna in 1683, quite possibly changing the fate of Western civilization
forever.
He has spent nearly his whole life in the Dallas suburb of The Colony. Though he desires to see the world,
deep down inside he misses sweet tea, 100+ degrees summer weather, and the frequent use of yall that
were a part of his childhood.
When hes not persuading his friends to become fellow Decathletes or conducting science experiments (i.e.
tossing lithium into local waterways), Eric can be found watching The Big Bang Theory or Arrested
Development, doing Pilates in an effort to improve his infamous inflexibility, and playing jazz piano. You
usually wont be able to find him at home, though, as he has a slight obsession with hiking and mountain
biking (though in one embarrassing incident he did sprain his ankle by just getting off a bike).
Eric hopes to become the next Ms. Frizzle of Magic School Bus (or, as in the above photo, its lesser-known
4WD cousin, the Magic School Jeep) fame, sharing his passion for science with his next-door neighbor, the
barista at the local coffee shop, and the Tibetan yak-herder halfway around the world.
If you would like more random biographical facts, need a lab partner for that ever-so-challenging organic
chemistry class, or simply have a good science joke to share, feel free to contact Eric at
ericyang.texas@gmail.com.
Vital Stats
Competed with The Colony High School at the Region and State competitions in 2011-13
Earned the highest score at the 2013 Texas Medium School State competition with 8,893.3 points
209
Decathlon philosophy in a phrase: Its not just any competition. Its a way of life.
Joined DemiDec in May 2011
209
Yes, those three-tenths of a point are oh-so important.
ABOUT THE EDITOR
Josephine Richstad is the Editorial Director at DemiDec. She competed in
Academic Decathlon exactly once in her hometown of Columbia, South Carolina
and does not remember what her score was, although she does remember that it
was the highest in the stateout of both competing high schools.
After this pinnacle of academic achievement, she earned a BA in English with
honors from Columbia University and a Ph.D. in English from UCLA. Her
published writing ranges from Writing Everyday English Emails to Genre in
Amber: Preserving the Fashionable Novel for a Victorian Decade, Catherine
Gores Hamiltons (1830 and 1848) (Modern Philology, February 2014). She
wrote her first DemiDec resource in 2008 and is currently deciding to which
position she'll promote herself next year.
Josephine now lives in the bucolic college town of Ithaca, New York where shes earning her Ph.T. at Cornell
Law School. She has a dog, a cat, and a three-year-old daughter, who nearly decapitated a rather large stuffed
alpaca at the 2012 World Scholar's Cup Tournament of Champions.
She is very sorry.
When Josephine is not checking her DemiDec email at 3 in the morning, she can be found making jam,
knitting, watching BBC procedurals, and losing at Dominion. To discuss AlpacaGate, college towns,
nineteenth-century novels, or Dominion strategies, you can contact her at josephine@demidec.com. You can
also follow her on Twitter @jrichstad, where she currently averages eight tweets per year.

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SCIENCE

is added to the DNA backbone

Albrecht Kossel (54) - German chemist

Alfred Hershey (57) - Worked at the Cold Spring Harbor Laboratory

Alfred Sturtevant (8, 46, 78) - Thomas Morgans student

Archibald Edward Garrod (8,

Aristotle (6) - Greek philosopher

Arthur Kornberg (65) - Biochemist at Stanford University

August Weismann (50, 51) - German developmental biologist

Carl Erich Correns (7, 37) - German botanist and geneticist

Colin MacLeod (57) - Oswald Averys colleague

Daniel Nathans (71) - Worked with Hamilton Smith on restriction enzyme

Edith Rebecca Saunders (45) - British botanist and plant geneticist

Edmund Wilson (8) - American embryologist

Edouard van Beneden (7) - Belgian scientist

Eduard Strasburger (7) - Polish scientist

Edwin Chargaff (58) - Compared DNA from different organisms

Erich von Tschermak-

Ernst Mayr (54) - Evolutionary biologist

Franklin Stahl (61) - Molecular biologist

Frederick Griffith (56) - English microbiologist

Frederick Sanger (78) - Won his 2

Friedrich Miescher (54) - Swiss biochemist

G.H. Hardy (52) - British mathematician

Gregor Mendel (5, 6, 28, 30,

Hamilton Smith (71) - Researcher at Johns Hopkins University

Hippocrates (6) - Greek philosopher

Hugo de Vries (7, 37) - Dutch botanist and geneticist

J.B.S. Haldane (9) - British evolutionary biologist

Joseph Kolreuter (6) - First scientist to study genetic crosses

Karl Landsteiner (42) - Austrian scientist

Maclyn McCarty (57) - Oswald Averys colleague

Martha Chase (57) - Worked at the Cold Spring Harbor Laboratory

Matthew Meselson (61) - Molecular biologist

Maurice Wilkins (60) - Rosalind Franklins colleague

Michael Dawson (56) - Scientist at Columbia University

Nettie Stevens (8) - American embryologist

Oswald Avery (56) - Scientist at Rockefeller University

Phoebus Levene (54) - Russian-American biochemist

Plato (6) - Greek philosopher

Reginald Punnett (8, 40, 45) - British geneticist

Richard Sia (56) - Scientist at Columbia University

Roger Kornberg (65) - Researcher at Stanford University

Ronald A. Fisher (9, 53) - British statistician and geneticist

Rosalind Franklin (58, 59) - Maurice Wilkinss colleague

Severo Ochoa (65) - Researcher at New York University

Sewall Wright (9) - American geneticist

Socrates (6) - Greek philosopher

Theodor Boveri (7) - German scientist

Theodosius Dobzhansky (54) - Evolutionary biologist

Thomas Brock (73) - Discovered Taq polymerase in the 1960s

Thomas Hunt Morgan (8, 9,

Walter Sutton (7) - American scientist

Walther Flemming (7, 50) - German scientist

Werner Aber (71, 72) - Swiss geneticist

Wilhelm Weinberg (52) - German physician

William Bateson (8, 44, 45) - British geneticist

William Castle (52) - American geneticist

Capsule (13, 56) - Thick layer of polysaccharides

Cell wall (9, 11, 13, 18, 19,

Central vacuole (16, 18) - Found in plants and certain protists

Centromere (18, 20-22, 24,

Centrosome (17-19, 21, 22) - Functions as a microtubule organizing center