Bio 102 Lecture 3: Population Genetics and Evolution

Genes and Evolution

• Mendel’s explanation for heritable traits

• Darwin’s proposal of evolution by natural selection

• Genetic variation and evolution

Darwin and Evolution

• Charles Darwin (1859) “On the Origin of Species”

• Why are living things so well-adapted to their surroundings?

• In his Theory of Evolution by Natural Selection, Darwin provided a scientific

explanation for adaptation based on natural laws, not supernatural or religious
actions

The Voyage of the HMS Beagle

Darwin &Wallace — Evolution by Natural Selection

Evolutionary theories before Darwin

• Evolution by Natural Selection

• In 1858, Charles Darwin proposed the theory of Evolution – “Descent with

modification”: “Through time, species accumulate differences; as a result,
descendants differ from their ancestors. In this way, new species arise from
existing ones.”

• Enormous amounts of variation among individuals in populations

• Variable traits are inherited from parent to offspring

• Populations are under selective pressures to survive

• Only individuals with traits most suited to surviving will be likely to live and
reproduce, thus passing on their traits at high rates to the next generation

Genetic Variation and Evolution

• Genetic variation:

– Differences in alleles of genes found within individuals in a population

 • Polymorphic variation:

– More than one allele at frequencies greater than mutation alone

• SNPs – single nucleotide polymorphisms:

– Used to assess patterns in human and natural populations.

• Raw material for natural selection

Population genetics

– A population consists of individuals of the same species that are

living in the same area at the same time.

• Study of properties of genes in a population

– Evolution results in a change in the genetic composition of a

population

– Genetic variation is the raw material for selection

• Evolution is the change in allele frequency in individuals that modifies the

“fitness” of that population.

Analyzing Change in Allele Frequencies

• In 1908, G. H. Hardy and Wilhelm Weinberg developed a mathematical model

to analyze the consequences of matings among all of the individuals in a
population -The Hardy-Weinberg Principle:

• What happens in an entire population, when all of the individuals (all

possible genotypes) breed?

• All gametes produced in each generation go into a single group called a gene
pool and then combine randomly.

• Used to predict the genotypes of offspring and the frequency of each

genotype in that population
Hardy–Weinberg equilibrium

• Assumes that proportions of genotypes do not change in a population if:

1. No mutation takes place

2. No genes are transferred to or from other sources (no immigration or

emigration)

3. Random mating is occurring

4. The population size is very large

5. No selection occurs

Hardy–Weinberg equation

• For 2 alleles p and q in a population:

• allele p = B for black coat color phenotype

– Black cats genotype are BB or Bb

• Allele q = b for white coat color phenotype

– White cats genotype are bb

• If the frequencies of alleles B and b in a population are given by p and q, then

the frequencies of genotypes BB, Bb, and bb will be given by p2, 2pq, and q2
for generation after generation (The probability of two events happening
independently is the product of the probability of each event)

• Because there are only two alleles, p plus q must always equal 1:

p+q=1

• If a population is in Hardy-Weinberg equilibrium with allele frequencies

of p and q, then the probability that an individual will have each of the three
possible genotypes is p2 + 2pq + q2 , which also = BB + Bb + bb
And the sum of the three genotype frequencies must also equal 1 (100% of the
population): p2 + 2pq + q2 = BB + Bb + bb = 1

Genotype frequencies in generation two:

p2 (BB)+ 2pq (Bb)+ q2 (bb) = 0.36+2(0.24)+0.16 = 1

Allele frequency in generation two:

p=0.36+1/2(0.48) = 0.60 => hasn’t changed

q=0.16+ ½(0.48) = 0.40 => hasn’t changed

• When alleles are transmitted via meiosis and random combination of gametes,
their frequencies do not change over time.

• For evolution to occur, some other factor or factors must come into play.

Evolutionary forces at work?

To test if natural selection is acting on a particular gene and evolutionary

mechanisms are at work:

• Use the Hardy-Weinberg principle to test the null hypothesis (null = no

change, no evolution takes place).

• When genotype frequencies do not conform to Hardy-Weinberg proportions,

evolution or nonrandom mating is occurring in that population.

Agents of evolutionary change

• Mechanisms that shift allele frequencies in populations:

1. Nonrandom mating.

2. Gene flow occurs when individuals leave one population, join another, and
breed. Alleles may appear or disappear as individuals come and go.
 3. Mutation modifies allele frequencies by continually introducing new alleles.
Mat be beneficial, detrimental or have no effect.

4. Genetic drift causes allele frequencies to change randomly, introduce a

nonadaptive component

5. Natural selection increases the frequency of those alleles that contribute to

reproductive success in a particular environment, results in adaptation.

Nonrandom mating

• Assortative mating

• Phenotypically similar individuals mate

• Increases proportion of homozygous individuals

• Disassortative mating

• Phenotypically different individuals mate

• Produces excess of heterozygotes

Gene flow

• Movement of alleles from one population to another

• Animal physically moves into new population

• Drifting of gametes or immature stages into an area

• Mating of individuals from adjacent populations

• gene flow homogenizes populations.

• movement of alleles between populations always tends to reduce genetic

differences between them.
Mutation

• Rates generally low

• Other evolutionary processes usually more important in changing allele

frequency

• Ultimate source of genetic variation

• Makes evolution possible:

• Although most evolutionary mechanisms reduce genetic diversity, mutation

restores genetic diversity by creating new alleles

Mutations and genetic variations

• Evolution by natural selection is not goal directed, does not create variation,
just favors individuals that happen to be better adapted to the environment at
the time

• When selective pressures are low, mutations often result in little or no benefit
to an organism, or are often harmful.
 • Mutations can be more beneficial when selective pressures are high: Example
– antibiotic resistance in bacteria

Resistance to Antibiotics: M. tuberculosis

• Under normal conditions, mutant forms of RNA polymerase do not work as

well as the normal form

• During antibiotic therapy, cells with normal RNA polymerase grow more
slowly or die, while those with mutant RNA polymerase proliferate.

• Variation existed in population, was heritable and improved reproductive

success under selection

Mutations: Take-Home Messages

Mutation plays an important role in evolution:

1. Mutations are the ultimate source of NEW genetic variations, create

new alleles.

2. Mutation alone is usually inconsequential in changing allele

frequencies at a particular gene.

Genetic Drift

• In small populations, allele frequency may change by chance alone

• Magnitude of genetic drift is negatively related to population size

• Alters allele frequencies in small populations

 – Can lead to the loss of alleles in isolated populations

• Founder effect

• Bottleneck effect

Founder Effects Cause Genetic Drift

• A founder event occurs when a group starts a new population in a new area.

• Especially in small groups, allele frequencies probably differ from the source
population; this change in allele frequencies is called a founder effect.

• Founder effects are especially common in the colonization of isolated

habitats.

• Each time a founder event occurs, a founder effect is likely to accompany it,
changing allele frequencies through genetic drift.

Genetic Drift - Bottlenecking

• Genetic drift can lead to the loss of alleles in isolated populations

• Alleles that initially are uncommon are particularly vulnerable

Bottleneck case study: Northern Elephant Seal

 • Nearly hunted to extinction in 19th century

• As a result, species has lost almost all of its genetic variation

• Population now numbers in tens of thousands

Selection

• Many traits affected by more than one gene

• Selection operates on all the genes for the trait

• Changes the population depending on which genotypes are favored

• Natural Selection

• Artificial Selection

• Types of selection

– Disruptive

– Directional

– Stabilizing

Types of Selection
Example of Disruptive Selection

• Birds with intermediate-sized beaks are at a disadvantage with both seed

types – they are unable to open large seeds and too clumsy to efficiently
process small seeds

Example of Directional Selection

• Acts to eliminate one extreme

• Often occurs in nature when the environment changes

• In Drosophila, artificially selected flies that moved toward the light

– Now fewer have that behavior

Example of Stabilizing selection

• Acts to eliminate both extremes

• Makes intermediate more common by eliminating extremes

• In humans, infants with intermediate weight at birth have the highest

survival rate

Natural Selection

• Three conditions required for natural selection to occur:

1. Variation must exist among individuals in a population

2. Variation among individuals must result in differences in the number

of offspring surviving in the next generation

3. Variation must be genetically inherited

Natural Selection vs Evolution

• Natural selection and evolution are not the same

– Natural selection is a process

• Only one of several processes that can result in evolution

– Evolution is the historical record, or outcome, of change through time

• Result of evolution driven by natural selection is that populations become

better adapted to their environment

Evolution and Adaptation

• Adaptation is a “heritable trait” that increases an individual's fitness in a

particular environment relative to individuals lacking that trait.

• Evolution is the change in “heritable traits” in individuals over time that

modifies the “fitness” of that population
Examples of Natural Selection: pocket mice coat color

• Pocket mice come in different colors

– Population living on rocks favor dark color

– Populations living on sand favor light color

Examples of Natural Selection: housefly pesticide resistance

• Housefly has pesticide resistance alleles at

– pen gene decreases insecticide uptake

– kdr and dld-r genes decrease target sites for insecticide

Measuring Evolutionary Fitness

• Individuals with one phenotype leave more surviving offspring than

individuals with an alternative phenotype

• The most fit phenotype is simply the one that produces the greatest number
of offspring

Evolution and Adaptation

• Adaptation is a “heritable trait” that increases an individual's fitness in a

particular environment relative to individuals lacking that trait.

• Evolution is the change in “heritable traits” in individuals over time that

modifies the “fitness” of that population

Example of Fitness: Water Striders

• Larger female water striders lay more eggs per day

• Large females survive for a shorter period of time

• As a result, intermediate-sized females produce the most offspring over the

course of
their
entire
lives and
thus have
 the highest fitness

Interactions between Evolutionary forces

Vs. Genetic Drift Gene Flow Mutations

Selection Drift may Constructive - can In nature, mutation

decrease an allele spread beneficial rates are rarely
favored by mutation to other high enough to
selection populations counter selection

Selection usually Constraining - can

overwhelms drift impede adaptation
except in small by continual flow of
populations inferior alleles from
other populations

Maintenance of variation

• Frequency-dependent selection

– Fitness of a phenotype depends on its frequency within the

population

– Negative frequency-dependent selection

• Rare phenotypes favored by selection

• Rare forms may not be in “search image”

– Positive frequency-dependent selection

• Favors common form

• Tends to eliminate variation

• “Oddballs” stand out

Negative frequency-dependent selection

 • In water boatman, fish eat the most common color type more than they
would by chance alone

Heterozygote advantage

• Heterozygotes are favored over

homozygotes

• Works to maintain both alleles in the

population

• Example: Sickle cell anemia

– Hereditary disease affecting

hemoglobin, causes severe
anemia

– Homozygotes for sickle cell allele usually die before reproducing

(without medical treatment)

• Why is the sickle cell allele not eliminated?

Inheritance, Evolution and Natural Selection

• Mendel’s Particulate inheritance works with Darwin’s natural selection, as

opposed to blending inheritance.

• Evolution is the change in allele frequency in individuals that modifies the

“fitness” of that population.

• Natural selection is not the only mechanism responsible for evolution:

– Mutations and gene shuffling contribute to genetic variation

Review of Key Points

• Each of the evolutionary mechanisms has different consequences:

1. Only natural selection produces adaptation - occurs when individuals

with certain alleles produce the most surviving offspring in a
population.

2. Genetic drift causes random fluctuations in allele frequencies.

 3. Gene flow equalizes allele frequencies between populations.

4. Mutation introduces new alleles.

5. Nonrandom mating: Inbreeding changes genotype frequencies but

does not change allele frequencies.

• Evolution by natural selection is not progressive, and it does not change the
characteristics of the individuals that are selected―it changes only the
characteristics of the population