Gene pool is all of the genes and different alleles

in a population
We study genetic variation within the gene pool and
how genetic variation changes from one generation to
the next

POPULATION
Group of individuals of the
same species that can
interbreed with one
another
 Genes in Natural Populations
Are Usually Polymorphic
Polymorphism – many
phenotypic traits display
variation within a population
Due to 2 or more alleles at
a locus that influence a
phenotype
Polymorphic gene/locus - 2 or
more alleles
Monomorphic gene/locus–
predominantly a single allele
[“fixed” locus]
Polymorphisms are the raw
material for evolution
 Population Genetics and Gene (Allele)
Frequencies in Populations

The Neo-Darwinian theory

Evolution is a population phenomenon
Evolution is a change in gene (now allele) frequencies in a
population because of various natural forces such as
mutation, selection, migration, or genetic drift
These changes in allele frequencies lead to differences
among populations, species, and higher clades
This population genetics view of evolution became known as
Neo-Darwinian theory with its emphasis on the frequency
of genes and alleles in populations
 [Population Genetics]

Integrates ideas from many different fields:

• Darwin

• Mendel

• Population genetics

• Comparative morphology & molecular biology

• Taxonomy – relationships of taxa

• Paleontology – study of fossils

• Biogeography – distribution of species

 [Population Genetics]

Key points
• importance of populations as units of evolution
 populations evolve, individuals do not
 evolution as changes in gene frequencies within
populations

central role of natural selection

idea of gradualism
 changes occur over long periods of time
 accumulation of small changes large changes
 [Population Genetics]

What population genetics studies?

•genetic variation among individuals within
groups (populations, gene pools)
•genetic basis for evolutionary change and
•how patterns vary geographically and through
time
•focus on one or a few loci within a “Mendelian
population”(= group of sexually interbreeding
individuals who share a common set of genes)
 The Hardy-Weinberg Principle
The original proportions of the allele frequencies in a population
remain constant from generation to generation as long as five
assumptions are met

Five H-W Equilibrium assumptions: If:

1. The population size is very large
2. Random mating is occurring
3. No mutation occurs
4. No selection occurs
5. No alleles transfer in or out of the population
(no migration occurs)

Then allele frequencies in the population will

remain constant through future generations
Hardy-Weinberg law

Predictions

p2 + 2pq + q2 = (p + q)2 = 1
 The Hardy-Weinberg Principle

p = frequency for first allele in the population’s gene

pool
q = frequency for second allele in the population’s
gene pool
Calculate allele frequencies with a binomial
equation:
p+q=1
because there are only two alleles:
p + q must always equal 1 (100% of the alleles)
[Note: more alleles can be handled, e.g., with three alleles: p + q + r = 1]
 The Hardy-Weinberg Principle

Calculate genotype frequencies with a binomial

expansion
(p+q)2 = p2 + 2pq + q2 = 1
p2 = individuals homozygous for first allele
2pq = individuals heterozygous for the alleles
q2 = individuals homozygous for second allele

because there are three phenotypic classes:

p2 + 2pq + q2 must always equal 1
The Hardy-Weinberg Principle

p = 0.6 and q = 0.4 and therefore p + q = 1.0

12
 Product Law of Probability
Product Law of Probability: The probability of two
independent events occurring simultaneously is equal to
the product of their separate probabilities

Male gamete production is independent of female gamete production

13
 The Hardy-Weinberg Principle

assume 100
viable offspring

36 BB and 48 Bb offspring have (36 + 36 + 24 + 24 = ) 120 B alleles; 48 Bb and 16 bb have

(24 + 24 + 16 + 16 = ) 80 b alleles. Freq of B = 124/200 = 0.6 and freq. of b = 80/200 = 0.4.

use the Hardy-Weinberg equation to predict frequencies in subsequent generations

14
Another Example • 49 red-flowered RR
• 42 pink-flowered Rr
• 9 white-flowered rr
• [100 diploid individuals
carry 200 alleles]

49 RR and 42 Rr offspring have

(49 + 49 + 42 = ) 140 R alleles

42 Rr and 9 rr have
(42 + 9 + 9 = ) 60 r alleles

Freq of R = 140/200 = 0.7 and freq.

of r = 60/200 = 0.3

No allele freq. change in the F1

The Hardy-Weinberg Equilibrium
• Relates allele and genotype frequencies
under certain limiting conditions
p2 + 2pq + q2 = 1 (the Hardy-Weinberg Equation)
If we apply the equation to the flower color gene, then:
p2 = the genotype frequency of RR
2pq = the genotype frequency of Rr
q2 = the genotype frequency of rr
If p = 0.7 and q = 0.3, then:
Frequency of RR individuals = p2 = (0.7) 2 = 0.49
Frequency of Rr individuals = 2pq = (2)(0.7)(0.3) = 0.42
Frequency of rr individuals = q2 = (0.3) 2 = 0.09
Types of questions studied by population geneticists:
• how much variation occurs in natural populations? and
• what processes control the variation observed?
• what forces are responsible for divergence among populations?
• Mutation  genetic diversity

• Selection () genetic diversity

• Genetic drift  genetic diversity

• Migration () genetic diversity
• Non-random mating  genetic diversity
 Five Agents of Evolutionary Change

A population not in Hardy-Weinberg equilibrium is one in

which allele frequencies are changing generation to
generation due to one or more of the five evolutionary agents
that are operating in the population 20
 [Population Genetics]

Genetic Diversity
Population Size  the number of organisms in a
population will effect genetic diversity

•the larger the population, the more genetic

 Agents of Evolutionary Change
• Small Population Size:
• When a population is large, then allele frequencies are very unlikely to
change due to random sampling error
• When a population is small, then, just by chance, some individuals fail to
mate at all, not because they are unfit
• When a population is small, then, just by chance, some offspring fail to
survive to reproduce, not because they are unfit
• When a population is small, gene frequencies may change due to these
sorts of random effects – this is called genetic drift

California condors
 Genetic Drift
• Genetic drift: Random fluctuations in allele
frequencies over time due to chance events
• important in small populations
• founder effect – a few individuals
found a new population (with a
small allelic pool)
• bottleneck effect – a drastic
reduction in population, and
gene pool size and complexity
DNA studies indicate that polar bears have suffered repeated bottleneck
events when the arctic climate warmed and also repeated hybridization
23
causing gene introgression (HGT) from their sister group, the brown bears
 Founder Effect

Contoh dari founder effect : Suku Amish adalah sebuah komunitas keagamaan
yang ada di Amerika. Kepercayaan mereka mengharuskan mereka untuk hidup
terpisah dari masyarakat luas. Mereka membentuk komunitas tersendiri dan
menikah dengan anggota komunitas itu saja. Dalam populasi Amish ini, telah
terjadi peningkatan kelainan sindrom Ellis-van CreveldI yang menyebabkan
kekerdilan, kelainan jantung, dan penambahan jumlah jari. Frekuensi kejadian
sindrom ini adalah 7% dalam komunitas Amish, jauh lebih besar daripada
frekuensi di masyarakat umum.
 Table 13.1: Definitions of Genetic Drift and
Comments on Them

Genetic drift tends to increase variation between populations, but in no

particular direction, including not necessarily (belum tentu) to increase
the fitness of the population
 Agents of Evolutionary Change
• Random Mating is required for the Hardy-Weinberg
Equilibrium
• The members of the population mate with each other without
regard (tanpa memandang) to their phenotypes and genotypes
• The members of the population are (relatively) equally likely to
mate with any other member of the population of the opposite
sex, i.e., have relatively equal access to all members of the
population
• Humans mate without regard to ABO and Rh blood types
– This example shows that a particular gene can meet the H-W equilibrium
criteria, even though the species as a whole does not
• Wind-pollinated plant species and many aquatic species who
release their eggs and sperm into the water
• Animals who are members of large mobile schools, herds or flocks
26
 Agents of Evolutionary Change
• Nonrandom Mating: mating between specific
genotypes shifts genotype frequencies

Non-Random mating could be either like with

like; also called Assortative Mating or
opposites attracting each other; also called
27
Non-Assortative Mating
 Agents of Evolutionary Change
• Nonrandom Mating: mating between specific
genotypes shifts genotype frequencies
• Ladies, would you prefer to mate and produce
offspring with one of these males over
another? If so, you are practicing non-random
mating based on phenotypic characteristics

28
 Agents of Evolutionary Change
• Nonrandom Mating: mating between specific
genotypes shifts genotype and phenotype frequencies
– Assortative Mating: does not change frequency of individual
alleles; increases the proportion of homozygous individuals
– Disassortative Mating: phenotypically different individuals
mate; produces an excess of heterozygotes

Assortative Mating Disassortative

Mating
Selfing Inbreeding Random Mating Obligate
Outcrossing
Less Genetic Diversity Hardy-Weinberg More Genetic Diversity
More Homozygotes Equilibrium More Heterozygotes
Clones/Clonal Lineages Many Genotypes
More Uniformly Fit Individuals Individuals of Varying Fitness
Less Potential to Adapt to Change More Potential to Adapt to Change 29
 Inbreeding
• Mating between relatives
or selfing in plants
– Occurs in smaller
populations
• If there is no natural
selection, an inbreeding
population will acquire an
increase in the frequency
of homozygotes without a
change in allele frequency
in the population
Coefficient of Inbreeding
 Agents of Evolutionary Change
• Mutation: Changes in a cell’s DNA
– Mutation is the ultimate source of genetic
variation
– Since a new mutation transforms an allele
into a different allele, it must also change
allele frequencies
– Mutation rates are generally so low that they
have little effect on Hardy-Weinberg
proportions of common alleles in the short
term, over a few hundred generations

32
Agents of Evolutionary Change

Variation from
1/10000 to
1/1000000000
 Agents of Evolutionary Change
• Natural selection: environmental conditions
determine which individuals in a population
produce the most offspring
• Three conditions are required for natural
selection to occur:
– Variation must exist among individuals in a
population
– Variation among individuals must result in differences
in the number of offspring surviving
– Variation must be genetically inherited

34
 Agents of Evolutionary Change
• Gene Flow: A movement of alleles from one
population to another
– Migration of individuals or gametes between populations
– Migration can be a powerful agent for evolutionary change
– Migration tends to homogenize allele frequencies between
populations
– But migration is adding or removing alleles from the gene
pool, so migration is going to change gene frequencies in
the populations experiencing immigration or emigration

35
 Agents of Evolutionary Change
Migration – the movement of breeding individuals into or
out of isolated populations – results in evolutionary change
because alleles move with the individuals. We call this
movement gene flow.

• If enough migration occurs, the original isolates, with

their inherent limited genetic variability, may fuse and
form a new larger population with increased genetic
variability.
 Sickle-Cell Anemia
• In sickle-cell anemia, hemoglobin (Hbs) has poor oxygen
affinity
• Sequencing of the hemoglobin gene revealed one change
from the normal amino acid sequence:
 Sickle Cell Anemia

Normal globin gene (H)

GAG (glutamate)
Hh Hh HH hh Hh

GTG (valine) Genotypes

Sickle cell gene (h)
 Sickle-Cell Anemia
Evolution of populations is best understood
in terms of frequencies:
1. Phenotypes 2. Alleles 3. Genotypes
Phenotypes Gene Alleles Genotypes

Normal hemoglobin H HH, Hh

hemoglobin

Sickle Cell hemoglobin h hh

 Sickle-Cell Anemia
Actual Phenotype Frequencies: Sickle Cell Anemia in
the African American Population
Phenotype # people Phenotype
Freq.
Normal Homozygous 29.94M 0.998
Dominants &
Carriers
Sickle Cell Recessive 0.06M 0.002
Disease
Total # African 30M 1.000
Americans
 Sickle-Cell Anemia
Actual Genotype Frequencies: Sickle Cell Anemia in
the African American Population
Phenotype Genotype # People Genotype
freq
Dominant HH 27.4M 0.915

Dominant Hh 2.5M 0.083

Recessive hh 0.06M 0.002

Total # African 30M
Americans
 Sickle-Cell Anemia
H-W Expected Frequencies: Sickle Cell Anemia in the
African American Population

Genotype H-W Expected Actual Phenotype Allele Allele Freq

Phenotype Frequency
Frequency
HH 0.996004 0.915 ↓ H 0.998
Hh 0.003992 0.083 ↑
hh 0.000004 0.002 ↑ h 0.002

If p (0.998) + q (0.002) = 1
 Hardy–Weinberg Principle
• According to the Hardy–
Weinberg principle, in a
population of randomly
mating individuals, allele
frequencies are conserved
and in equilibrium unless
external forces act on them
• What is going on with Sickle
Cell Anemia in African-
Americans?
• [~400 years is only 16 Figure 07: Hardy–
Weinberg equilibrium
human generations or so] Adapted from Falconer, D. S. and T. F. C Mackay. Introduction
to Quantitative Genetics, Fourth edition. Longman, 1996.
 Sickle-Cell Anemia’s
Heterozygote Advantage
• The recessive sickle-cell allele
produces hemoglobin with reduced
capacity to carry oxygen
• This mutation also confers malaria
resistance in heterozygotes
• This heterozygote advantage leads
to a larger proportion of the
recessive allele than usual in areas
where malaria is widespread
• These populations exhibit balanced
polymorphism between the
mutant and wild-type alleles
 Global Blood Group Gene Frequencies
The original colonists of North
America were a small group of
O apparently O+ founders; Caucasian
Type A individuals may have
originated in Scandinavia; Type B
individuals seem to have originated
in Central Asia

A B

Different ABO blood group phenotypes may have little to do with variation in O2 transport, but
are correlated with other factors such as disease susceptibility, e.g., Type A individuals seem to
be less resistant to smallpox
Selection, Variation and Increased Fitness
• R. A. Fisher, one of the founders of population
genetics noted that the greater the genetic
variation upon which selection for fitness may
act, the greater the expected improvement in
fitness
• Variation itself is subject to selection, and so
the propensity to vary (variability) is an
important attribute of organisms
 Phylogeography
• One tool for reconstructing the geographical
history of a lineage uses knowledge of
genetics to plot variation in allele frequencies
on the distribution map of the demes or
populations of a species

Distribution of
Mycobacterium
tuberculosis strains in
human populations
Why Doesn’t Natural Selection Eliminate All
Genetic Variation in Populations?
• Natural selection tends to reduce variability in
populations by eliminating less fit alleles
• Mechanisms which counteract that elimination to
preserve genetic variation include:
– The diploid condition preserves variation by “hiding”
recessive alleles (Bb)
– Balanced polymorphisms (2 or more phenotypes are
stable in the population) may result from:
1. heterozygote advantage: Aa superior to aa and AA
2. frequency-dependent selection
3. variation within the environment for a population
 Frequency-Dependent Selection
• Frequency-dependent selection is the term given to an evolutionary process
where the fitness of a phenotype is dependent on its frequency relative to other
phenotypes in a given population
• In positive frequency-dependent selection, the fitness of a phenotype increases as
it becomes more common
• In negative frequency-dependent selection, the fitness of a phenotype increases as
it becomes rarer (this is an example of balancing selection)
• Frequency-dependent selection is usually the result of interactions between
species (predation, parasitism, or competition) or between genotypes within
species (usually competitive or symbiotic), and has been especially frequently
discussed with relation to anti-predator adaptations

negative frequency-
dependent selection in
fruit flies