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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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