Gregor Mendel observed phenotypes and

formed hypotheses
• How do offspring come to resemble their parents physically?

• Genetics begins with the unifying assumption that biological

inheritance is carried by structures called Genes.

• The same basic patterns of inheritance apply to most organisms.

• The inheritance of some human traits can be explained from work on

plants

• Sex-linked traits in humans is more complicated

• Gregor Mendel
– Was the first person
to analyze patterns of
inheritance
– Deduced the
fundamental
principles of genetics
 Terms:

• Phenotype
– An organism’s physical traits

• Genotype
– An organism’s genetic makeup
 Allele
• Allele: Alternate form of a gene at same position
on pair of chromosomes that affect the same trait.
• Dominant Allele: Capital Letter--O
• Recessive Allele: lowercase letter--o
• Homozygous Dominant--OO
• Homozygous Recessive--oo
• Heterozygous--Oo
Mendel’s Peas
– These plant are
easily
manipulated
– These plants can
self-fertilize

Stamen

Carpel

Garden pea
 Dominant Recessive Dominant Recessive

Pod shape Inflated Constricted

Flower color Purple White

Pod Color Green Yellow

Flower position Axial Terminal

Seed color Yellow Green

Stem length Tall Dwarf

Seed shape Round Wrinkled

 Monohybrid Crosses
P Generation
(true-breeding
parents)
Purple White
flowers flowers

F1 Generation All plants have

purple flowers

Fertilization
among F1 plants
(F1  F1)

F2 Generation

3/ 1/ of plants
F2 = 3:1 ratio 4of plants 4
have purple have white
flowers flowers
 P plants PP PP

• Using a Punnett Gametes All P All p

square to explain
the results of a F1 plants:
monohybrid cross (hybrids) All Pp

Gametes 1/
2 P 1/
2
p

Eggs P P Sperm
F2 plants:
p PP p
Phenotypic ratio
3 purple : 1 white Pp Pp

pp
Genotypic ratio
1 PP : 2 Pp : 1 pp

Figure 9.8b
• from the monohybrid crosses, Mendel derived 4
hypotheses….combined, we now refer to these as…

= Mendel’s Principle of Segregation

– There are alternative forms of genes, now called alleles

– For each characteristic, each organism has two genes

– Gametes carry only one allele for each inherited characteristic

– Alleles can be dominant or recessive

 Mendel’s PrinciPle of indePendent
Assortment

• What happens when you follow the

inheritance of more than a single trait at one time?

• How do two different traits get passed to offspring?

A Dihybrid Cross
 RRYY rryy
Dihybrid Cross
Gametes RY ry

RrYy

Eggs RY RY Sperm
RrYy rY
RrYy
rY
RRYY

Ry RrYY RrYY Ry

ry ry
RRYy rrYY RRYy

RrYy RrYy RrYy RrYy Yellow round

9/
16
rrYy RRyy rrYy Green round
3/
16
Rryy Rryy Yellow
3/
16 wrinkled
rryy 1/ Green
16
wrinkled

9:3:3:1
• Mendel’s principle of independent assortment

– Each pair of alleles segregates independently of the

other pairs during gamete formation

P a B

P a b

Genotype: PP aa Bb
 Using a Testcross to Determine an
Unknown Genotype

• A testcross is a mating
Testcross:
between:
– An individual of Genotypes P_ pp
unknown Two possibilities for the purple flower:
genotype and
– A homozygous PP Pp
recessive
Gametes P P p
individual
P Pp p Pp pp

Offspring All purple 1 purple : 1 white

The Human cell cycle
• Interphase--G1, S, G2
• Mitosis--M
• G1--growth
• S--DNA Synthesis,
replication
• G2--growth
• M:
– mitosis-- nuclear division
– cytokinesis--cell division
 Stages of Division- Mitosis
• Prophase--nuclear envelope breakdown,
chromosome condensation, spindle formation.
• Metaphase--chromosomes are lined up precisely on
the metaphase plate, or middle of the cell.
• Anaphase--spindle pulls sister chromatids apart.
• Telophase--chromatids begin to decondense and
become chromatin. Spindle disappears.
• Cytokinesis--divide cell and organelles. Actin ring,
or cleavage furrow splits cell.
Gamete Production -Meiosis
• In order to reproduce we must produce
gametes.
• Gametes are sperm and egg.
• Why is that siblings are not identical?
• Meiosis blends DNA from parental
contributions to produce a mixed up “half” or
haploid, set of DNA.
• Crossing over is critical for producing haploid
DNA with genetic diversity.
 The Process of Meiosis
Interphase

– Haploid gametes are Centrosomes

(with
produced in diploid centriole
pairs)
organisms
– Two consecutive
divisions occur,
meiosis I and meiosis
II, preceded by
interphase
Nuclear
envelope Chromatin

Chromosomes duplicate
 Prophase -I
Replicated pairs of chromosomes line
up side by side.

These pairs are called Homologous--

both have same gene order (gene for
eye color, hair color, etc).

Sister chromatid from one pair interact

with a Sister chromatid from another
pair.

One sister is from father, one sister

from mother, but they have same gene
order.
 Prophase -I
• This interaction is called
Synapsis.

• Synapsis results in the

formation of a Tetrad (4
sisters together).

• Crossing over swaps sections

of homologous genes.
 Meiosis - I
Figure 2.9 (1)

Prophase I

Metaphase I

Anaphase I

Telophase I
Meiosis - II
Figure Prophase
2.9 (2) II

Metaphase II

Anaphase II

Telophase II
• Meiosis I
Meiosis I: Homologous
chromosomes separate
Telophase I
Prophase I Metaphase I Anaphase I
and Cytokinesis
Sites of crossing over Microtubules attached to Sister chromatids Cleavage
Chromosomes remain attached furrow
Spindle

Sister Tetrad Centromere

chromatids

Homologous Tetrads line up Pairs of homologous Two haploid cells form:

chromosomes chromosomes chromosomes are still
pair and exchange split up double
segments
• Meiosis II
Meiosis II:
Sister chromatids separate

Prophase II Telophase II
Metaphase II Anaphase II
and Cytokinesis

Sister chromatids Haploid daughter cells

separate forming

During another round of cell division, the sister chromatids finally separate; four haploid
daughter cells result, containing single chromosomes
 Sexual life cycles
• Haploid Gametes join to form a zygote
• Somatic cells divide by Mitosis to produce adult organism
• Meiosis produces gametes in sex cells