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Copyright (c) The McGraw-Hill Com 1
CHAPTER 24
POPULATIONGENETICS
Prepared by
Brenda Leady, University of Toledo
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Population genetics
Study of genes and genotypes in a
population
Want to know extent of genetic variation,
why it exists and how it changes over time
Helps us understand how genetic variation
is related to phenotypic variation
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Gene pool
All of the genes in a population
Study genetic variation within the gene
pool and how variation changes from one
generation to the next
Emphasis is often on variation in alleles
between members of a population
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Population
Group of individuals of the same species
that can interbreed with one another
Some species occupy a wide geographic
range and are divided into discrete
populations
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Genes in Natural Populations Are
Usually Polymorphic Polymorphism many traits display variation within
a population Due to 2 or more alleles that influence phenotype
Polymorphic gene- 2 or more alleles Monomorphic predominantly single allele Single nucleotide polymorphism (SNPs)
Smallest type of genetic change in a gene
Most common 90% of variation in human genesequences Large, healthy populations exhibit a high level of
genetic diversity
Raw material for evolution
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Allele and genotype frequencies
Related but distinct calculations
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Example
49 red-flowered RR
42 pink-flowered Rr
9 white-flowered rr
Allele frequency of r
1.0 - 0.3 = 0.7 frequency of R
Genotype frequency of rr
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Hardy-Weinberg equation
Relates allele and genotype frequencies
under certain conditions
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Conditions The population is so large that allele frequencies do
not change due to random sampling error The members of the population mate with each other
without regard to their phenotypes and genotypes No migration occurs between different populations No survival or reproductive advantage exists for any
of the genotypesin other words, no natural selectionoccurs
No new mutations occur
In reality, no population meets these conditions If frequencies are not in equilibrium, an
evolutionary mechanism is at work
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Microevolution
Changes in a populations gene pool fromgeneration to generation
Change because Introduce new genetic variation (mutations, gene
duplication, exon shuffling, horizontal gene transfer) Population will not evolve with mutations as the only source
Evolutionary mechanisms that alter the prevalence ofan allele or genotype (natural selection, randomgenetic drift, migration, nonrandom mating) Potential for widespread genetic change
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Selective survival of genotypes that confergreater reproductive success
Natural selection acts onCharacteristics with a survival advantage
Make organisms better adapted, more likely tosurvive, greater chance to reproduce
Favors individuals that produce viableoffspring
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Modern description of natural selection
1. Allelic variation arises from random mutations that mayalter the function of the protein.
2. Some alleles may encode proteins that enhance anindividuals survival or reproductive success compared to
that of other members of the population3. Individuals with beneficial alleles are more likely to
survive and contribute their alleles to the gene pool ofthe next generation
4. Over the course of many generations, allele frequencies
of many different genes may change through naturalselection, thereby significantly altering the characteristicsof a population Net result of natural selection is a population that is better
adapted to its environment and/or more successful atreproduction.
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Darwinian fitness
Relative likelihood that a genotype will
contribute to the gene pool of the next
generation as compared with othergenotypes
Measure of reproductive success
Hypothetical gene with alleles A and aAA, Aa, aa
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Suppose average reproductive successes
areAA 5 offspring
Aa 4 offspring
Aa 1 offspring Fitness is W and maximum is 1.0 for
genotype with highest reproductive ability
Fitness of AA: WAA = 5/5 = 1.0Fitness of Aa: WAa = 4/5 = 0.8
Fitness of aa: Waa = 1/5 = 0.2
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Mean fitness of population
Average reproductive success of
members of a population
As individuals with higher fitness valuesbecome more prevalent, natural selection
increases the mean fitness of the
population
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Natural selection patterns
Directional selection
Stabilizing selection
Disruptive selection
Balancing selection
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Directional selection
Favors individuals at one extreme of a
phenotypic distribution that have greater
reproductive success in a particularenvironment
Initiators
New favored allele introducedProlonged environmental change
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Stabilizing selection
Favors the survival of individuals with
intermediate phenotypes
Extreme values of a trait are selectedagainst
Clutch sizeToo many eggs and offspring die due to lack
of care and food
Too few eggs does not contribute enough to
next generation
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Balancing selection
Maintains genetic diversity Balanced polymorphism
Two or more alleles are kept in balance, andtherefore are maintained in a population overthe course of many generations
2 common ways
For a single gene, heterozygote favored Heterozygote advantage HS alleleNegative frequency-dependent selection
Rare individuals have a higher fitness
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Sexual selection
Form of natural selection Directed at certain traits of sexually
reproducing species that make it morelikely for individuals to find or choose amate and/or engage in successful mating
In many species, affects malecharacteristics more intensely than it doesfemale
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Intrasexual selection Between members of the same sex
Horns in male sheep, antlers in male moose, malefiddler crab enlarged claws
Males directly compete for mating opportunities or
territories
Intersexual selection Between members of the opposite sex
Female choice
Often results in showy characteristics for males Cryptic female choice
Genital tract or egg selects against genetically related sperm Inhibits inbreeding
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Explains traits that decrease survival but increase
reproductive success Male guppy (Poecilia reticulata) is brightly colored
compared to the female Females prefer brightly colored males In places with few predators, the males tend to be
brightly colored In places where predators are abundant, brightly colored
males are less plentiful because they are subject topredation
Relative abundance of brightly and dully colored malesdepends on the balance between sexual selection, whichfavors bright coloring, and escape from predation, whichfavors dull coloring
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Hypothesized that females choose males
for mates based on males coloration Male were in glass enclosures to avoid
direct competition Goal to determine which of 2 males a
female would prefer Females preference for males dramatically
different under different lights
Mating preference lost undermonochromatic light
Sexual selection followed a diversifying
mechanism
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Random genetic drift
Changes allelic frequency due to random
sampling error
Random events unrelated to fitness Favors either loss or fixation of an alleleFrequency reaches 0% or 100%
Faster in smaller populations
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Bottleneck
Population reduced dramatically and thenrebuilds
Randomly eliminated members without
regard to genotype Surviving members may have allele
frequencies different from originalpopulation
Allele frequencies can drift substantiallywhen population is small
New population likely to have less genetic
variation
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Founder effect
Small group of individuals separates from
a larger population and establishes a new
colony
Relatively small founding population
expected to have less genetic variation
than original population
Allele frequencies in founding population
may differ markedly from original
population
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Neutral theory of evolution
Non-Darwinian evolution Neutral variation
Much of the variation seen in natural populations iscaused by genetic drift Does not preferentially select for any particular allele
Most genetic variation is due to the accumulationof neutral mutations that have attained highfrequencies due to genetic drift
Neutral mutations do not affect the phenotype sothey are not acted upon by natural selection
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Main idea is that much of the modern
variation in gene sequences is explainedby neutral variation rather than adaptivevariation
Sequencing data supports this idea Nucleotide substitutions much more likely
in 3rd base of codon (usually dont changeamino acid) than 1st or 2nd (usually does
change amino acid) Changing the amino acid is usually
harmful to the coded protein
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Migration
Gene flow occurs when individualsmigrate between populations having
different allele frequencies Migration tends to reduce differences in
allele frequencies between the 2populations
Tends to enhance genetic diversity withina population
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Nonrandom mating
One of the conditions required to establishthe Hardy-Weinberg equilibrium is random
mating Individuals choose their mates irrespective oftheir genotypes and phenotypes
Forms of nonrandom matingAssortative/disassortative Inbreeding
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Assortative mating Individuals with similar phenotypes are more
likely to mate Increases the proportion of homozygotes
Disassortative mating
Dissimilar phenotypes mate preferentiallyFavors heterozygosity
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InbreedingChoice of mate based on genetic historyDoes not favor any particular allele but it does
increase the likelihood the individual will be
homozygousMay have negative consequences with regard
to recessive allelesLower mean fitness of a population if
homozygous offspring have a lower fitnessvalue
Inbreeding depression
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