GRADE SCORE # % Cum %

A+ 97+ 1 0.00 0.20

A 93-96.5 10 0.02 2.22

A- 90-92.5 15 0.03 5.25

B+ 87-89.5 30 0.06 11.31

B 83-86.5 36 0.07 18.59

B- 80-82.5 35 0.07 25.66

C+ 77-79.5 43 0.09 34.34

C 73-76.5 66 0.13 47.68

C- 70-72.5 43 0.09 56.36

D+ 67-69.5 47 0.09 65.86

D 63-66.5 50 0.10 75.96

D- 60-62.5 37 0.07 83.43

F <60 82 0.17 100.00

 Population Genetics
The Hardy-Weinberg Equilibrium

The Hardy-Weinberg Theorem: In diploid organisms, allele frequencies &

genotypic ratios in large biparental populations reach an equilibrium in one
generation, and remain constant thereafter, unless disturbed by…

Least detectable
1. M

2. G

3. G

4. N
5. N

Most detectable
 Population Genetics
The Hardy-Weinberg Equilibrium

The Hardy-Weinberg Theorem: In diploid organisms, allele frequencies &

genotypic ratios in large biparental populations reach an equilibrium in one
generation, and remain constant thereafter, unless disturbed by…

1. Mutation
2. Gene flow
3. Genetic drift
4. Non-random mating
5. Natural selection

Helpful Hank says, “memorize this list”

 Causes of Evolution
A. Mutation
• Mutation is the source of all novel genetic variation.
• Mutation is any change in DNA

– mutations occur randomly with respect to what might be

adaptively beneficial in a particular selective regime
– Most mutations are harmful or neutral, but if conditions change,
could become advantageous

Kinds of mutations
1. Point mutations 2. Chromosomal mutations
Substitutions • Duplications
• silent (synonymous) • Deletions
• missense (nonsynonymous) • Inversions
• nonsense (nonsynonymous) • Translocations
Frameshift mutations • Transpositions
• basepair insertion/deletion
 Causes of Evolution
A. Mutation, 1. Point Mutations
Point Mutations alter a single point in the base sequence
a. Substitution: replacement of a single base nucleotide with
another nucleotide

Wild-type
i. SILENT (synonymous)
Some mutations falling on the 3rd position
in a codon (the 3-nucleaotide code for an
SILENT
AA) have no effect on the AA sequence
due to redundancy in the DNA code
Wild-type

ii. MISSENSE (nonsynonymous)

A change in the DNA code that causes an MISSENSE
change in the AA sequence

Wild-type

iii. NONSENSE (nonsynonymous)

A change in the DNA code that creates an
NONSENSE
unexpected STOP codon. Typically lethal!
 EXAMPLE

Sickle Cell Anemia:

A single nucleotide change of the
β-globin gene which codes for
hemoglobin
The point mutation is from an A to a
T, causing a codon change from
GAG to GTG, which results in the
substitution of valine instead of
glutamic acid in Hemoglobin
Is a missense mutation

Is a recessive character, so only people who are homozygous

recessive express full symptoms (heterozygotes have a few sickle-
shaped cells, so this is slightly codominant)
Causes periods of pain, and a typically shortened life-span
Why does this persist? heterozygotes have increased malarial resistance
 Causes of Evolution
A. Mutation, 1. Point Mutations

Another kind of point mutation is a Frameshift mutation

This occurs when there is a basepair insertion or deletion, which
causes the sequence of codons to be “read” incorrectly... these can
screw things up really badly! Often lethal.

Wild-type

Frameshift
mutant
 Causes of Evolution
A. Mutation, 2. Chromosomal Mutations

Chromosomal Mutations
Large-scale mutations of whole genes or parts of chromosomes

Original chromosome

Gene Duplication
Often happens during unequal
E
crossing over; can be beneficial

Deletion Locus D is DELETED

Also often happens during unequal
crossing over; usually bad news...

Inversion
Can reduce recombination, allowing
genes to be transmitted as a unit
 Causes of Evolution
A. Mutation, 3. Mutation Rates

Rare events: 1 x 10-6

 Causes of Evolution
A. Mutation, 3. Mutation Rates
Each LOCUS in a gamete has about a 1 in a million chance of mutating each
generation

• Because of the large number of genes that can mutate, chromosome rearrangements that can
change many genes simultaneously, and large numbers of individuals in a population, thus
mutation can generate substantial variation across the genome and in a population
• However:

because PER LOCUS mutation rate is low, mutations alone produce

small deviations from Hardy-Weinberg equilibrium at a locus.

If there are large deviations from H-W equilibrium at a particular locus,

other evolutionary processes are likely to be dominating.
 Spectacular Exceptions
Chromosomes form rings
leading to high rates of
reciprocal translocations and
not independently assorting
properly. Major radiations of
species with different ring
forming attributes.

Camissonia campestris
Mojave suncup
1 of ~105 sp, spp, var in genus
 Tetraploids

2N 2N gametes 4N

Tetraploidy is common in plants (and some animals). A failure of chromosomal

segregation leads to 2N gametes that fuse to form 4N individuals. Often the
extra genes can enhance favorable characteristics, such as flower size.
 Causes of Evolution
B. Gene Flow
GENE FLOW results from the migration of individuals and gametes (or
other propagules like seeds or larvae) from one population to another,
and the incorporation (by successful breeding) of the genes they carry
into the novel gene pools

Before the brown beetle

arrived, the green allele
frequency = 1; after, = 0.87
(if all homozygous)

These larvae allow gene flow over

thousands of kilometers, even
though the adults barely move

Honeybees are important vectors

for gene flow – moving pollen over
long distances seastar larva
 Causes of Evolution
B. Gene Flow

New alleles can be added to the gene pool, OR allele frequencies

changed by:

...the immigration (arrival) of individuals from another population with

different gene frequencies into a recipient population

...the emigration (departure) of individuals out of a population; this has

an especially large effect if the source population is small
 Causes of Evolution
B. Gene Flow
So, gene flow has important effects on evolutionary change at
TWO levels:

1. Within a population
• Gene flow can introduce alleles to a population,
increasing the genetic variation of that population
• Gene flow can change allelic frequencies, causing Microevolutionary
evolution consequences
• Thus it will keep the population out of H-W
equilibrium as long as it continues

1. Across populations
• By moving genes around, gene flow can make
distant populations genetically similar to one Macroevolutionary
another, reducing the chance of genetic
consequences
divergence & speciation.
• The less gene flow between two populations, the
more likely that two populations will diverge &
evolve into two species.
 Causes of Evolution
C. Genetic Drift

The random change in allele frequencies and loss of alleles, due to

chance
Genetic drift occurs because populations are not infinitely large:
• The larger the population, the LESS the importance of drift
• The smaller the population, the GREATER the importance of drift

Drift happens to some extent in all real populations (though it can be ignored in
very large ones), but there are 2 demographic processes that can make
drift extremely strong and important:
1) Founder effects These are becoming more common as we
2) Population bottlenecks make populations very small!
Imagine a new habitat is colonized by just a few
individuals. Allele frequencies will likely be
changed simply by chance events. In addition, rare
alleles are likely to be lost (why rare ones?).

“New” population
Established population

e.g., Founder effect

 Causes of Evolution
C. Genetic Drift, 1. Founder Effects
1890-91 (100 birds) Now (200,000,000 birds)

• European starlings introduced to N. America in 1890 (n=60) & 1891

(n=40) by Eugene Schieffelin, of the Acclimation Society of N. America
• Current population in N. America ≈ 200,000,000 birds
• Source population carries >31 alleles at 11 loci
• N. American population now carries 18 alleles at the same loci
• 42% loss relative to native populations
 Causes of Evolution
C. Genetic Drift, 2. Population Bottlenecks
Population bottlenecks are very similar to founder effects, but occur when
populations are greatly reduced in size. This can happen through natural
processes (e.g., disease) or by humans.
• Bottlenecks occur when species are overharvested by humans, or when
their habitats are reduced or fragmented extensively.
 Famous Genetic Bottleneck
Cases

Northern Elephant seal (Mirounga angustirostris) Fur seals (Arctocephalus spp. 8 species)
 The Greater Prairie Chicken

Greater prairie chickens in Illinois were reduced by hunting & habitat loss to about
50 birds in the 1990s; they lost an estimated > 75% of allelic diversity

Formerly widespread

Populations being restored

through captive breeding.
Restoring genetic diversity
(Bouzat et al 2009).
 Causes of Evolution
C. Genetic Drift, 2. Population Bottlenecks

NatureServe Explorer
Pink- exotic
Red- critically imperiled
Brown-not yet ranked.

• California fan palms are now restricted to a few oases in

southern California (Sonoran Desert) due to climate change
& habitat destruction, Populations contain measurable
genetic variation (McClenaghan and Beauchamp 1986.)
 Causes of Evolution
Bottleneck Hall of Fame

Speke’s Gazelle
-Formerly common over a
narrow distribution in the
Horn of Africa.
-no protected areas in wild;
declining populations.
--Zoos may be the best
hope.
 Genetic Bottlenecks 2011
Orsini’s viper. Vipera ursinii ursinii
Ferchauls et al. 2011. (France)
Gastropod snail; Lake
Malawi. Schultheiss et
al. 2011

Egyptian Vulture.
Neophron percnopterus
Agudo et al. 2011.
Propithecus verreauxi; Madagascar
Lawler, RR. 2011. Calystegia soldanalla; Japan
Noda et al. 2011.
Hihi, Notiomystis cincta
New Zealand.
Brekke et al. 2011
 Causes of Evolution
D. Non-Random Mating
Nonrandom mating occurs when individuals choose mates with
particular genotypes or phenotypes; there are 2 types:

1. INBREEDING (or, more correctly, positive assortative mating)

occurs when individuals preferentially mate with the same
genotype as themselves.

2. OUTBREEDING (negative assortative mating) occurs when

individuals avoid mating with similar genotypes (or close relatives).

3. Sexual Selection also causes non-random mating (we’ll talk

about this as a form of selection later).
4. Strong Disparity in mating opportunity. Social dominance.
 Causes of Evolution
D. Non-Random Mating, 1. Inbreeding

Inbreeding (positive assortative mating) occurs when individuals

preferentially mate with the same genotype as themselves:
a. Start with 3 genotypes: A1A1, A1A2, A2A2

• p (A1) = 0.5

• q (A2) = 0.5
• What are the EXPECTED genotype frequencies at H-W equilibrium?

b. Mating rule: Each genotype only mates with genotypes like itself
(i.e. perfect inbreeding)
c. If A1A1 homozygotes only mate with A1A1 homozygotes, & A2A2
homozygotes only mate with A2A2 homozygotes, then neither of these
kinds of inbred matings will have any effect on allelic and genotypic
frequencies in the next generation
d. What matters is matings between heterozygotes...
 Causes of Evolution
D. Non-Random Mating, 1. Inbreeding
Imagine heterozygote inbred matings...

1st generation: A 1A 2 x A1A2 All hets

F1’s : A1A1(25%) A1A2(50%) A2A2(25%) 50% hets

2nd generation A 1A 2 x A1A2 All hets

F2’s : A1A1(25%) A1A2(50%) A2A2(25%) 50% hets

The number of heterozygotes keeps declining by 50% per generation,

until they’re gone (not as extreme when inbreeding isn’t “perfect”)

With perfect inbreeding:

1. allele frequencies remain the same, but
2. heterozygosity declines dramatically (up to 50% per gen)
 Causes of Evolution
D. Non-Random Mating, 1. Inbreeding

Effects of Inbreeding on Fitness: PKU (phenylketonuria)

Inbreeding increases the likelihood that deleterious recessive alleles will
be present in the homozygous state

PKU is caused by a recessive mutation in a gene we’ll

call the R-locus (mutant allele = r)
RR and Rr (CARRIER) genotypes can convert
phenylalanine to tyrosine
rr genotypes cannot do this, so a byproduct of
phenylalanine accumulates in nervous tissue and
causes severe brain damage
The observed frequency of the r allele is about 0.01 in
human populations, so the EXPECTED frequency of rr
homozygotes (diseased) is (0.01)2 = 1/10,000
In Ireland, p(r) is also about 0.01, yet until recently, the
incidence of PKU was closer to 1/4500 births.
How can this be?
 Causes of Evolution
D. Non-Random Mating, 2. Outbreeding

The pin type has a stigma at the

top; the thrum type is reversed
Insects get pollen on their bodies
and transfer it between pin and
thrum flowers, or vice versa, to Nectar at
Fig 22.11 in
bottom
pollinate them text

Consequence: over-representation of heterozygosity.

 For
Friday