Lecture 1:

Biological Genetics
and Evolution
Suggested Reading
„ James F. Crow, Genetic Notes: An Introduction to
Genetics, 8th Edition

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Structure of DNA (Deoxyribonucleic Acids)
W C
ƒ Discovered by James Watson and Francis
Crick in 1953
ƒ DNA has double-helical structure
ƒ The longitudinal strands made of phosphate
and 5-carbon sugar called deoxyribose
ƒ The linkages between two strands are
purine-pyrimidine bridges
ƒ Helix makes 360° turn every 10 steps
ƒ W&C for Watson and Crick, who
discovered this structure Purine-pyrimidine bridge

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The Purine-Pyrimadine Bridge
„ Types of Purines
Adenine (A) (paired with T)
Guanine (G) (paired with C)
„ Types of Pyrimidine
Thymine (T) (paired with A)
Cytosine (C) (paired with G)

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The Purine-Pyrimidine Bridge
„ Result – 4 Letter Alphabet
AT A T
TA
GC G C
3.4Å
CG C G
Note: AT isn’t TA
A T
„ Sequence carries information
1000 steps can carry 41000 different T A
messages
Hydrogen bonds

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DNA Replication

T A A G A C T A
C A T T C T G A T
A G A
T C T
G T A A G A C T A
A T T C T G A T

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DNA Amounts in Humans
„ Humans have 3.4x106 base pairs (haploid)
„ Total length in diploid cells is 2 m (average
chromosome length is about 4 cm)
„ Arrangement within nucleus is a mess
„ How this sorts itself out not understood

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DNA in Different Species
„ E. Coli: 1 (per unit)
„ Yeast: 4
„ Drosophilae: 20
„ Silk Moth: 60
„ Carp: 500
„ Human: 1000
„ Newt: 10,000
„ Lily: 50,000

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Cells and Cell Division
„ Cell Structure:
Nucleus
Cytosome (Cytoplasm)

Cytosome
„ Cell Size:
Ostrich egg is single cell
E-coli is 2 μ by 0.5 μ Nucleus
Whale and Giraffe nerve cells
are several feet long
Humans have 1014 cells

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Chromosomes in Cell Nucleus
„ Humans are diploid
„ Wasps, bees, and ants are haploid
„ Potatoes are tetraploid
„ Wheat is hexaploid
„ Strawberries are octaploid

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Mitosis (Nuclear Division)
„ Cytoplasm divides more or less equally between cells
„ Chromosomes undergo precise process that insures
that an equal number of chromosomes is distributed
to each of the new cell

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Mitosis
„ Interphase:

„ Prophase

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Mitosis

„ Metaphase

„ Anaphase

„ Telophase

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Meiosis (Formation of Gametes)
„ Original cell

„ Chromosome doubling

„ Chromosome pairing
(note: crossover occurs
here)
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Meiosis (Formation of Gametes)
„ Cell Division
(Possibility 1)

„ Another Division

„ Each sperm or egg has

½ normal number of
chromosomes

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Meiosis (Formation of Gametes)

„ Cell Division
(Possibility 2)

„ Another Division

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Mendelian Inheritance
„ Gregor Johann Mendel
1822-1884
Austrian Roman Catholic Monk and Botanist
Performed experiments with peas in 1860s
Reported work in 1866
Work remained unknown for 35 years

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An Experiment with Tall and Short Pea
Plants

„ When tall plant crossed with short plant, he always

got a tall plant
„ This was true regardless of which parent (male or
female) was tall
„ This confirmed earlier observations that both parents
contribute equally
„ He then allowed hybrids to self pollinate. He ended
up with 787 tall plants and 277 short plants
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Mendel’s First Law :
Law of Segregation
Heredity characteristics (tallness or shortness) occur
in pairs and these pair segregate such that only one
member of the pair is used in a gamete

„ Heredity characteristic unit now known as gene

„ Mendel also developed concept of dominance and
recessiveness
„ Tested theory using genetic ratios of various mating
combinations

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Explanation of Results
Parental TT tt
Generation tall short
Female Male
„ Results gamete T t gamete

¼ Short 1st Hybrid

Generation Tt
¾ Tall (1st Filial) tall
„ Of the tall, 1/3 produced
only tall plants when self- T t T t
fertilized
„ Of the tall, 2/3 produced
tall and short plants when
self-fertilized 2nd Hybrid
Generation
TT Tt Tt tt
tall tall tall short
(2nd Filial)

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 Additional Vocabulary
„ Homozygote: zygote with identical genes
(TT or tt)

„ Heterozygote: zygote with different genes (Tt)

„ Alleles: alternate forms of a gene (T or t)

„ Genotype: genetic makeup (TT, Tt, tt)

„ Phenotype: characteristic determined by genotype (tall or short)

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Incomplete Dominance
„ Consider color pattern in cattle
„ One pair of alleles determines color (complete
dominance)
BB: black
Bb: black
bb: red
„ Another pair determines extent of color (incomplete
dominance)
RR: solid color
Rr: speckled with white
rr: no color

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Mechanism for Dominance
„ Genes result in production of enzymes
„ For complete dominance, one allele produces
enough to achieve a desired effect
„ Often, there will be subtle differences between
homozygous and heterozygous phenotypes (a
few white hairs on a black mouse)

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Mendel’s 2nd Law:
Law of independence

The members of one pair of alleles segregate

independently of other pairs

„ (This is only true if they are on separate chromosomes)

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Mendel’s 2nd Law: An Example
„ Round ( R) vs Wrinkled (r) seeds
„ Yellow (Y) vs Green (y) seeds
„ Round and Yellow are dominant

„ Step 1: Cross strain producing round yellow seeds

with strain producing wrinkled green seeds
„ Result: The F1 seeds are round and yellow
„ Step 2: Self fertilize F1 plants
„ Result:
9/16 of plants are round and yellow
3/16 of plants are wrinkled and yellow
3/16 of plants are round and green
1/16 of plants are wrinkled and green
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Expected Ratios
RR rr
„ Consider shape
(if independent) F1 Rr

„ Likewise for color

F2 RR Rr Rr rr
(if independent)
3/4 round 1/4 wrinkled
¾ yellow
¼ green

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Expected Ratios
„ Thus, if independent we should have
9/16 round yellow
3/16 round green
3/16 wrinkled yellow
1/16 wrinkled green
„ This is what is observed

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Gene Interactions:
The Punnett Square
„ Consider the comb shape in poultry
„ Genotype Phenotype
R- P- walnut
R- pp rose
rr P- pea
rr pp single

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The Punnett Square
Sperm from RrPp (walnut)
RP Rp rP rp
Egg from RrPp

RP RRPP RRPp RrPP RrPp

(walnut)

Rp RRPp RRpp RrPp Rrpp

rP RrPP RrPp rrPP rrPp
rp RrPp Rrpp rrPP rrpp

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Epistasis: Genes Masking Other Genes
„ Consider mouse coat patterns
„ Allele C necessary for any pigment
„ Genotype BB and Bb produce black; bb is brown
„ Thus
C- B- black
C- bb brown
cc B- white
cc bb white
„ Allele cc masks the color gene

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Mutation
„ Occasionally a gene mutates to another allele
„ A typical mutation rate for a given gene is one in 105
generations
„ Since there are many genes (say 104) per cell,
mutation is pretty common
„ In evolutionary terms
A high rate weakens population
A low rate keeps population from responding to change

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Mendel’s Insight
„ Used sharply contrasting traits
„ Used plants that can be self fertilized
„ Used plants that produce large sample sizes
„ He was lucky (genes are only independent when on different
chromosomes)
„ His luck didn’t hold – he tried (unsuccessfully) moving on to
hawkweed which has both sexual and asexual reproduction
which wasn’t understood for long after his death
„ The greatest barrier to acceptance of his theory were traits that
are caused by many traits and influenced by environment
(example human height and shape)

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Linkage and Chromosome Mapping
„ Linkage : Genes on the same chromosome tend to
stay together in inheritance

„ Consider Poultry
Leg length
„ C – creeper (dominant, note CC is lethal)
„ c – normal (recessive)
Comb type
„ R – rose comb (dominant)
„ r – single comb (recessive)

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Linkage and Chromosome Mapping

„ Experiment

Step 1: A homozygous rose-combed, normal-legged mated

with a single-combed, short-legged strain

Step 2: The resulting creeper hybrids test-crossed with

single-combed, normal legged strain

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Linkage and Chromosome Mapping
„ What should happen (comb) RR rr

step 1 R R r r

Rr Rr Rr Rr

step 2 Rr rr

Rr Rr rr rr

„ Thus 50% rose, 50 % single

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Linkage and Chromosome Mapping
cc Cc
„ What should happen (legs)
step 1 c c C c

Cc Cc cc cc
creeper hybrid
step 2 Cc cc

C c c c

Cc cc Cc cc

„ Thus 50 % short legged, 50 % long legged

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Linkage and Chromosome Mapping

„ Thus, by Mendelian principles

25% short-legged rose-combed
25% normal-legged rose-combed
25% short-legged single-combed
25% normal-legged single-combed

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Linkage and Chromosome Mapping

„ Actual results
1069 normal rose
1104 short single
6 short rose
4 normal single

„ Explanation: The two alleles were on the same

chromosome and did not act independently

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Linkage and Chromosome Mapping
R c r C
Step 1 mated with
R c r c

R c R c R c R c
Result
r c r c r C r C
creeper creeper
rose rose

R c r c
Step 2 mated with
r C r c

R c R c r C r C
Result
r c r c r c r c
normal normal creeper creeper
rose rose single single
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Linkage and Chromosome Mapping

„ Question:
What about the 6 short rose and 4 normal single ?
„ Answer:
Crossover
„ During meiosis the chromosomes can line up
side by side and the following can happen:

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Linkages and Chromosome Mapping

„ Importance of crossover
Crossover prevents a beneficial gene from being
inseparably linked to deleterious one
Crossover provides means for two good genes to
get together
Extends benefits of sexual reproduction

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Inheritance of Quantitative Traits

„ Example: height in humans

„ Genes that control this are
essentially identical to other genes, but not
phenotypically identifiable
cumulative in effect
often influenced by the environment
„ This class of traits is said to be polygenic

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Inheritance of Quantitative Traits

„Example: Seed color is some species

Genotype Phenotype
A’A’B’B’ very dark red
A’A’B’B,A’AB’B’ dark red
AA’BB’,A’A’BB,AAB’B’ medium red
A’ABB,AAB’B light red
AABB white

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