Molecular Genetics

The HOW of Heredity

 Why Study Molecular
Genetics?
We now know a lot about patterns of
inheritance.
 Punnett Squares
 Pedigrees

 Many different types of inheritance

 Why Study Molecular
Genetics?
Now we need to understand how
these things happen.
 What makes a genotype show up as a
phenotype?
 How can a DNA code cause you to
have the traits you have?
 How do scientists study genes and
proteins?
 What about mutations?
 DNA Structure
We begin our study of
molecular genetics with
the molecule of heredity:
DNA
DNA structure
 double helix
 repeating units =
nucleotides
 Adenine (A), Thymine
(T), Cytosine (C), and
Guanine (G)
 DNA Structure
The genetic code:
nucleotide sequence
 C, A, T and G’s.
 A portion of DNA that
codes for a particular
trait is called a gene.
Base pairing: A – T, C –
G.
 DNA replication
 protein synthesis.
 RNA Structure
RNA is a single-stranded chain of
nucleotides.
Nitrogenous Bases
 Adenine

 Cytosine

 Guanine

 Uracil
 Types of RNA
messenger RNA (mRNA). Copies the
DNA code and carries it to the ribosome.
ribosomal RNA (rRNA). A building of
ribosomes: machinery for synthesizing
proteins by translating mRNA.
transfer RNA (tRNA). RNA molecules
that carry amino acids to the growing
polypeptide.
 Gene Expression
How is an organism’s genetic code
contained in its DNA?
Gene Expression: Living things
read and use encoded DNA. DNA
code is used to build proteins.
Proteins are responsible for many
of an organism’s characteristics.
 The Many Functions of
Structure Proteins
a.   Keratin – skin, hair, feathers
b.   Actin and Myocin – muscle
movement
c.    Collagen – connective tissue
The Many Functions of
Proteins
Hemoglobin – carry O2 on RBC
Hormones (chemical signals)
a. Insulin – regulate sugar uptake
b. Epinephrine (adrenaline) –
fight or flight stress response
c. Estrogen/Testosterone – sex
characteristics
 Flow of Genetic
Information

Most genes encode the information for

the synthesis of a protein
The sequence of bases in DNA codes for
the sequence of amino acids in proteins
Flow of Genetic
Information
 Central Dogma of Molecular Biology

Mitosis ONLY!!!

Transcription:
DNA  mRNA
Protein
Synthesis
Translation:
mRNA  amino
acids
 In Prokaryotes…

Transcription and translation happen at

the same time.
 In Eukaryotes….

DNA stays in the

nucleus….
an evolutionary
adaptation!!

Transcription in the nucleus

Translation in cytoplasm – at ribosome
 The Genetic Code
mRNA “transcribes” DNA
Three mRNA bases = a codon
 Will code for 1 amino acid
 Carried to ribosome by tRNA

Why 3? Why not 1 or 2?

AUG = UAA =
GO STOP
The Genetic Code
Suppose you started with
the following strand of
DNA:
CATTCGATCCAAGTT
Transcription

RNA strand 
 G U A A G C U A G G U U C A A

Amino acid sequence 

Val Ser STOP
 The Genetic Code
There are 64 different tRNA
molecules.
 Each carries only 1 amino acid. (Why
64? What else are there 64 of?)
 Each has a unique anticodon on its
mRNA-binding end
 anticodon is complementary to the
codon on the mRNA.
Another case of
complementary base
pairing
1. Identify the 
Transcription
• DNA
• nucleus
• mRNA
• tRNA
• Codons
• Anticodons
• Ribosome
• Amino acids
2. Identify 2 instances 
of complementary 
base pairing
Translation
 1

4?

3
 mRNA Processing
mG (methyl-guanine) cap is added
to starting end.
 Helps mRNA attach to ribosome
Splicing occurs to remove non-coding
segments called introns. Remaining,
coding segments are exons.
String of adenines added to the
other end (a poly-A tail)
 Protect the mRNA from being broken
down.
mRNA Processing
 Review
DNA  _____  _____  trait
DNA is made of building blocks called
_____. How many different building
blocks?
The is composed of sequences of ___
nitrogenous bases called _____
that code for a specific amino acids.
There are ____ different codons.
There are _____ different amino acids.
 Review
Transcription occurs in the ______.
Translation occurs in the ____.
How many different tRNA molecules are
there?
What is a codon?
How Do Prokaryotes Do It?
Prokaryotes have 1
circular gene.
 90% translated, few
introns.
 Additional genes may
be found on plasmids,
smaller DNA circles.
 Plasmids can be
transferred between
bacteria for a type of
“sexual reproduction”.
 How Do Viruses Do It?
Must use host cell’s gene
expression machinery. Viral
genetic info can be DNA or RNA.
 Mutations
Changes in the genetic material
including
 DNA base sequences
 structure of a chromosome
 DNA Mutations
Point Mutations –
 N-base substitutions
 Usually change a single
amino acid in a protein
 Silent mutations – base
change w/o amino acid
change
Frameshift Mutations
 Insertions or Deletions
 Usually alter all the amino
acids in the protein from
the site of the mutation.
Chromosomal Mutations
Changes to the chromosomal structure
usually due to breakage during cell
division
 Deletion – a section is lost or deleted
 Duplication – a section is repeated
 Inversion – a section is broken out and then
spliced back in incorrectly
 Translocation – a section of one chromosome
attaches to a different chromosome
 Chromosomal Mutations
LE 15 -14

Deletion
A deletion removes a chromosomal
segment.

Duplication
A duplication repeats a segment.

An inversion reverses a segment Inversion

within a chromosome.

A translocation moves a segment

from one chromosome to another,
Reciprocal
nonhomologous one.
translocation
 Mutations and Human
Disease
Mutations may result in proteins that do not
function properly.
 Metabolic diseases - enzymes are nonfunctional thus
interfering with normal metabolism
 Tay Sachs
 Transport diseases – transport proteins are missing or
nonfunctional interfering with cellular transport
 Cystic Fibrosis
 Structural disease – structural proteins are abnormal thus
interfering with normal growth and development.
 Sickle Cell Anemia
Somatic cell vs. Sex cell
mutations
Somatic cell mutation affects only
one cell
 Not inherited
 Mutation of tumor suppressor genes
in somatic cells may lead to cancer.
Mutations in sex cells are inherited and
will be found in all cells of the offspring.
 DNA Technology
DNA Extraction - the opening of cells
to separate/isolate DNA from other
cell parts
 Detergent

 Meat tenderizer
 Cold ethanol
 DNA Technology:
Copying DNA
Polymerase chain reaction_(PCR)
 makes many copies of a small amount of
DNA
 Tests requiring large DNA samples can now
be run
 DNA Technology:
Cutting DNA
Large DNA molecules are cut into
fragments by restriction enzymes.
 Found in bacteria, used for defense
 These enzymes recognize and cut
DNA at specific sequences.
 DNA Technology:
Separating DNA
DNA fragments can be separated
and analyzed using gel
electrophoresis
 Allows scientists to compare
different DNA samples
 DNA Technology:
Recombinant DNA
Scientists can cut DNA
from two sources with
the same restriction
enzyme and combine
them.
 used in genetic
engineering.
 create human proteins used
to treat disease
 create pest-resistant crops
 Meiosis
Recall mitosis: cell ÷ of somatic (body) cells.
 Results in diploid daughters; clones of parent.
Meiosis: cell ÷ that forms haploid gametes.
Why is meiosis important?
 Sexual reproduction
 Genetic variation among offspring
 Meiosis
3 Differences between mitosis and
meiosis:
 Cell divides 2X, but only replicates
chromosomes 1X. Results in haploid cells
 Distributes random mixture of parent
genes (Independent assortment)
 Homologous chromosomes pair up during 1st
cell ÷ . Here, they often exchange genes 
Crossing Over
 Meiosis
Two Divisions take place:
 Meiosis
I – Separation of homologous
chromosomes. P1M1A1T1
 MeiosisII – Separation of sister
chromatids. (Same as mitosis) P2M2A2T2

Four haploid daughter

cells.
Genetic variation! 
A must for natural 
selection 
Stages of Meiosis 1

tetrads
Stages of Meiosis 2
 Meiosis: Production of
Gametes

Females produce 1 large cell, the  Males produce 4 equal sized sperm
ovum. 3 small polar bodies 
disintegrate.
 Errors in Meiosis
Nondisjunction. Unequal
separation of chromosomes
leads to a gamete that is +1
or –1 chromosome.
 n +1 = trisomy
 n – 1 = monosomy
 Often, embryo dies

Ex: Downs syndrome, trisomy

21
 1/700 births, higher risk in moms
over 35.
 Errors in Meiosis
Translocation. Large parts of chromosomes
break off and switch places.
 Ex: the Philadelphia chromosome results when
part of chrom 9 and 22 exchange positions.
 A gene promoter placed at the beginning of ras, a
protein-encoding gene that initiates cell ÷ 
constant gene expression, protein always
produced. This protein activates the cell cycle.
Philadelphia chromosome leads to leukemia
(cancerous WBC).
 Karyotypes
May be used to check for fetal
abnormalities.
 Chromosomes are stained to show
banding.
 Stains only bind to specific regions.

 ID chromosomes by size, centromere

location, and banding.
Karyotypes
Any Questions?