Chapter23

TheEvolutionofPopulations
LectureOutline
Overview
Onecommonmisconceptionaboutevolutionisthatorganismsevolve,inaDarwinian
sense,duringtheirlifetimes.
Naturalselectiondoesactonindividuals.Eachindividualscombinationofinherited
traitsaffectsitssurvivalanditsreproductivesuccessrelativetootherindividualsinthe
population.
However,theevolutionaryimpactofnaturalselectionisonlyapparentinthechangesina
populationoforganismsovertime.

Itisthepopulation,nottheindividual,thatevolves.
Considertheexampleofbentgrass(Agrostistenuis)growingonthetailingsofan
abandonedmine.Thesetailingsarerichintoxicheavymetals.
Whilemanybentgrassseedslandontheminetailingseachyear,theonlyplantsthat
germinate,grow,andreproducearethosethatpossessgenesenablingthemtotolerate
metallicsoils.
Theseplantstendtoproducemetaltolerantoffspring.
Individualplantsdonotevolvetobecomemoremetaltolerantduringtheirlifetimes.

A.PopulationGeneticsConsidersHowPopulationsChangeGeneticallyoverTime

Darwinproposedamechanismforchangeinspeciesovertime.
WhatwasmissingfromDarwinsexplanationwasanunderstandingofinheritancethat
couldexplainhowchancevariationsariseinapopulationwhilealsoaccountingforthe
precisetransmissionofthesevariationsfromparentstooffspring.
Thewidelyacceptedhypothesisofthetimethatthetraitsofparentsareblendedintheir
offspringwouldeliminatethedifferencesinindividualsovertime.
JustafewyearsafterDarwinpublishedOntheOriginofSpecies,GregorMendel
proposedamodelofinheritancethatsupportedDarwinstheory.
Mendelsparticulatehypothesisofinheritancestatedthatparentspassondiscrete
heritableunits(genes)thatretaintheiridentitiesinoffspring.
AlthoughGregorMendelandCharlesDarwinwerecontemporaries,Darwinneversaw
Mendelspaper,anditsimplicationswerenotunderstoodbythefewscientistswhodid
readitatthetime.
Mendelscontributiontoevolutionarytheorywasnotappreciateduntilhalfacentury
later.

1.ThemodernevolutionarysynthesisintegratedDarwinianselectionandMendelian
inheritance.
IG Lecture Outline 23-1

 WhenMendelsresearchwasrediscoveredintheearly20thcentury,manygeneticists
believedthathislawsofinheritanceconflictedwithDarwinstheoryofnaturalselection.
Darwinemphasizedquantitativecharacters,thosethatvaryalongacontinuum.
Thesecharactersareinfluencedbymultipleloci.
Mendelandlatergeneticistsinvestigateddiscreteeitherortraits.
Itwasnotobviousthattherewasageneticbasistoquantitativecharacters.
Withinafewdecades,geneticistsdeterminedthatquantitativecharactersareinfluenced
bymultiplegeneticlociandthattheallelesateachlocusfollowMendelianlawsof
inheritance.
ThesediscoverieshelpedreconcileDarwinsandMendelsideasandledtothebirthof
populationgenetics,thestudyofhowpopulationschangegeneticallyovertime.
Acomprehensivetheoryofevolution,themodernsynthesis,

tookformintheearly
1940s.
Itintegrateddiscoveriesandideasfrompaleontology,taxonomy,biogeography,and
populationgenetics.
ThefirstarchitectsofthemodernsynthesisincludedstatisticianR.A.Fisher,who
demonstratedtherulesbywhichMendeliancharactersareinherited,andbiologistJ.B.S.
Haldane,whoexploredtherulesofnaturalselection.Latercontributorsincludedgeneticists
TheodosiusDobzhanskyandSewallWright,biogeographerandtaxonomistErnstMayr,
paleontologistGeorgeGaylordSimpson,andbotanistG.LedyardStebbins.

Themodernsynthesisemphasizes:
Theimportanceofpopulationsastheunitsofevolution.
Thecentralroleofnaturalselectionasthemostimportantmechanismofadaptive
evolution.
Theideaofgradualismtoexplainhowlargechangescanevolveasanaccumulationof
smallchangesoverlongperiodsoftime.

Whilemanyevolutionarybiologistsarenowchallengingsomeoftheassumptionsofthe
modernsynthesis,ithasshapedourideasabouthowpopulationsevolve.
2.Apopulationsgenepoolisdefinedbyitsallelefrequencies.

Apopulation

isalocalizedgroupofindividualsthatbelongtothesamespecies.

Onedefinitionofaspecies

isagroupofnaturalpopulationswhoseindividualshavethe
potentialtointerbreedandproducefertileoffspring.
Populationsofaspeciesmaybeisolatedfromeachotherandrarelyexchangegenetic
material.
Membersofapopulationarefarmorelikelytobreedwithmembersofthesame
populationthanwithmembersofotherpopulations.
Individualsnearthepopulationscenterare,onaverage,morecloselyrelatedtoone
anotherthantomembersofotherpopulations.
Thetotalaggregateofgenesinapopulationatanyonetimeiscalledthepopulations
genepool.
Itconsistsofallallelesatallgenelociinallindividualsofapopulation.
Ifonlyonealleleexistsataparticularlocusinapopulation,thatalleleissaidtobefixed
inthegenepool,andallindividualswillbehomozygousforthatgene.

IG Lecture Outline 23-2

Iftherearetwoormoreallelesforaparticularlocus,thenindividualscanbeeither
homozygousorheterozygousforthatgene.

Eachallelehasafrequencyinthepopulationsgenepool.

Forexample,imagineapopulationof500wildflowerplantswithtwoalleles(C RandCW)
atalocusthatcodesforflowerpigment.
Supposethatintheimaginarypopulationof500plants,20(4%)arehomozygousforthe
CWallele(CWCW)andhavewhiteflowers.
Oftheremainingplants,320(64%)arehomozygousfortheC Rallele(CRCR)andhavered
flowers.
Theseallelesshowincompletedominance.160(32%)oftheplantsareheterozygous
(CRCW)andproducepinkflowers.
Becausetheseplantsarediploid,thepopulationof500plantshas1,000copiesofthegene
forflowercolor.
Thedominantallele(CR)accountsfor800copies(3202forCRCR+1601forCRCW).
ThefrequencyoftheCRalleleinthegenepoolofthispopulationis800/1,000=0.8,or
80%.
TheCWallelemusthaveafrequencyof1.00.8=0.2,or20%.
Whentherearetwoallelesatalocus,theconventionistousep
torepresentthe
frequencyofonealleleandq
torepresentthefrequencyoftheother.
R
Thusp
,thefrequencyoftheC

alleleinthispopulation,is0.8.
ThefrequencyoftheCWallele,representedby

q
,is0.2.
3.TheHardyWeinbergTheoremdescribesanonevolvingpopulation.

TheHardyWeinbergtheoremdescribesthegenepoolofanonevolvingpopulation.

Thistheoremstatesthatthefrequenciesofallelesandgenotypesinapopulationsgene
poolwillremainconstantovergenerationsunlessacteduponbyagentsotherthanMendelian
segregationandrecombinationofalleles.
Theshufflingofallelesbymeiosisandrandomfertilizationhasnoeffectontheoverall
genepoolofapopulation.
Inourimaginarywildflowerpopulationof500plants,80%(0.8)oftheflowercolor
allelesareCR,and20%(0.2)areCW.
Howwillmeiosisandsexualreproductionaffectthefrequenciesofthetwoallelesinthe
nextgeneration?
Weassumethatfertilizationiscompletelyrandomandallmalefemalemating
combinationsareequallylikely.
Becauseeachgametehasonlyonealleleforflowercolor,weexpectthatagametedrawn
fromthegenepoolatrandomhasa0.8chanceofbearinganC Ralleleanda0.2chanceof
bearinganCWallele.
Supposethattheindividualsinapopulationnotonlydonategametestothenext
generationatrandom,butalsomateatrandom.Inotherwords,allmalefemalematingsare
equallylikely.
Theallelefrequenciesinthispopulationwillnotchangefromonegenerationtothenext.
Itsgenotypefrequencies,whichcanbepredictedfromtheallelefrequencies,willalso
remainunchanged.
Fortheflowercolorlocus,thepopulationsgeneticstructureisinastateofHardy
Weinbergequilibrium.
IG Lecture Outline 23-3

Usingtheruleofmultiplication,wecandeterminethefrequenciesofthethreepossible
genotypesinthenextgeneration.
TheprobabilityofpickingtwoCRalleles(toobtainaCRCRgenotype)is0.80.8=0.64,
or64%.
TheprobabilityofpickingtwoCWalleles(toobtainaCWCWgenotype)is0.20.2=
0.04,or4%.
HeterozygousindividualsareeitherCRCWorCWCR,dependingonwhethertheCRallele
arrivedviaspermoregg.
Theprobabilityofbeingheterozygous(withaC RCWgenotype)is0.80.2=0.16for
CRCW,0.20.8=0.16forCWCR,and0.16+0.16=0.32,or32%,forCRCW+CWCR.

Asyoucansee,theprocessesofmeiosisandrandomfertilizationhavemaintainedthe
samealleleandgenotypefrequenciesthatexistedinthepreviousgeneration.
TheHardyWeinbergtheoremstatesthattherepeatedshufflingofapopulationsgene
poolovergenerationsdoesnotincreasethefrequencyofonealleleoveranother.
Theoretically,theallelefrequenciesinourflowerpopulationshouldremainat0.8forC R
and0.2forCWforever.
Togeneralizetheexample,inapopulationwithtwoalleleswithfrequenciesofp
and
q
,
thecombinedfrequenciesmustaddto100%.
Thereforep
+
q
=1.
Ifp
+
q
=1,then

p
=1

q
and
q
=1

p
.
Inthewildflowerexample,pisthefrequencyofredalleles(CR)andqisthefrequencyof
whitealleles(CW).
TheprobabilityofgeneratinganCRCRoffspringisp2(anapplicationoftheruleof
multiplication).
Inourexample,p=0.8andp2=0.64.
TheprobabilityofgeneratingaCWCWoffspringisq2.
Inourexample,q=0.2andq2=0.04.
TheprobabilityofgeneratingaCRCWoffspringis2pq.
Inourexample,20.80.2=0.32.

Thegenotypefrequenciesmustaddupto1.0:

p2+2pq
+
q
2=1.0

Forthewildflowers,0.64+0.32+0.04=1.0.

ThisgeneralformulaistheHardyWeinbergequation.

Usingthisformula,wecancalculatefrequenciesofallelesinagenepoolifweknowthe
frequencyofgenotypes,orthefrequencyofgenotypesifweknowthefrequenciesofalleles.
4.FiveconditionsmustbemetforapopulationtoremaininHardyWeinbergequilibrium.
TheHardyWeinbergtheoremdescribesahypotheticpopulationthatisnotevolving.
However,realpopulationsdoevolve,andtheiralleleandgenotypefrequenciesdochange
overtime.
Thatisbecausethefiveconditionsfornonevolvingpopulationsarerarelymetforlongin
nature.
ApopulationmustsatisfyfiveconditionsifitistoremaininHardyWeinberg
equilibrium:
IG Lecture Outline 23-4

1. Extremelylargepopulationsize.Insmallpopulations,chancefluctuationsinthegene
poolcancausegenotypefrequenciestochangeovertime.Theserandomchangesare
calledgeneticdrift.
2. Nogeneflow.Geneflow,thetransferofallelesduetothemigrationofindividualsor
gametesbetweenpopulations,canchangetheproportionsofalleles.
3. Nomutations.Introduction,loss,ormodificationofgeneswillalterthegenepool.
4. Randommating.Ifindividualspickmateswithcertaingenotypes,orifinbreedingis
common,themixingofgameteswillnotberandom.
5. Nonaturalselection.Differentialsurvivalorreproductivesuccessamonggenotypeswill
altertheirfrequencies.

Evolutionusuallyresultswhenanyofthesefiveconditionsarenotmet.

Althoughnaturalpopulationsarerarely,ifever,intrueHardyWeinbergequilibrium,the
rateofevolutionarychangeinmanypopulationsissoslowthattheyappeartobecloseto
equilibrium.
Insuchcases,wecanusetheHardyWeinbergequationtoestimategenotypeandallele
frequencies.
Wecanusethetheoremtoestimatethepercentageofthehumanpopulationthatcarries
theallelefortheinheriteddiseasephenylketonuria(PKU).
About1in10,000babiesbornintheUnitedStatesisbornwithPKU,ametabolic
conditionthatresultsinmentalretardationandotherproblemsifleftuntreated.
Thediseaseiscausedbyarecessiveallele.
IstheU.S.populationinHardyWeinbergequilibriumwithrespecttothePKUgene?
1. TheU.S.populationisverylarge.
2. PopulationsoutsidetheUnitedStateshavePKUallelefrequenciessimilartothoseseen
intheUnitedStates,sogeneflowwillnotalterallelefrequenciessignificantly.
3. ThemutationrateforthePKUgeneisverylow.
4. PeopledonotchoosetheirpartnersbasedonwhetherornottheycarrythePKUallele,
andinbreeding(marriagetocloserelatives)israreintheUnitedStates.
5. SelectionagainstPKUonlyactsagainsttherareheterozygousrecessiveindividuals.
Fromtheepidemiologicaldata,weknowthatfrequencyofhomozygousrecessive
individuals(q2intheHardyWeinbergtheorem)=1in10,000,or0.0001.
Thefrequencyoftherecessiveallele(q)isthesquarerootof0.0001=0.01.
Thefrequencyofthedominantallele(p)isp=1q,or10.01=0.99.
Thefrequencyofcarriers(heterozygousindividuals)is2pq=20.990.01=0.0198,
orabout2%.

Thus,about2%oftheU.S.populationcarriesthePKUallele.

B.MutationandSexualRecombinationProduceGeneticVariation
1.Newgenesandnewallelesoriginateonlybymutation.

Amutation

isachangeinthenucleotidesequenceofanorganismsDNA.

Mostmutationsoccurinsomaticcellsandarelostwhentheindividualdies.

Onlymutationsincelllinesthatformgametescanbepassedontooffspring,andonlya
smallfractionofthesespreadthroughpopulationsandbecomefixed.

IG Lecture Outline 23-5

 Anewmutationthatistransmittedinagametetoanoffspringcanimmediatelychange
thegenepoolofapopulationbyintroducinganewallele.

Apointmutationisachangeofasinglebaseinagene.

Pointmutationscanhaveasignificantimpactonphenotype,asinthecaseofsicklecell
disease.

However,mostpointmutationsareharmless.
MuchoftheDNAineukaryoticgenomesdoesnotcodeforproteinproducts.
However,somenoncodingregionsofDNAdoregulategeneexpression.
ChangesintheseregulatoryregionsofDNAcanhaveprofoundeffects.
Becausethegeneticcodeisredundant,somepointmutationsingenesthatcodefor
proteinsmaynotaltertheproteinsaminoacidcomposition.

Onrareoccasions,amutantallelemayactuallymakeitsbearerbettersuitedtothe
environment,increasingreproductivesuccess.
Thisismorelikelywhentheenvironmentischanging.

Somemutationsaltergenenumberorsequence.
Chromosomalmutationsthatdeleteorrearrangemanygenelociatoncearealmost
alwaysharmful.
Inrarecases,chromosomalrearrangementsmaybebeneficial.
Forexample,thetranslocationofpartofonechromosometoadifferentchromosome
couldlinkgenesthatacttogethertopositiveeffect.
Geneduplication

isanimportantsourceofnewgeneticvariation.

SmallpiecesofDNAcanbeintroducedintothegenomethroughtheactivityof
transposons.
Chapter21.9TRANSPOSONSMobilegeneticelementsthatmovebyacutandpaste
mechanismthatremovestheelementfromtheoriginalsiteorbycopyandpaste
mechanismthatleavesacopybehind.
Suchduplicatedsegmentscanpersistovergenerationsandprovidenewlocithatmay
eventuallytakeonnewfunctionsbymutationandsubsequentselection.
Newgenesmayalsoarisewhenthecodingsubsectionsofgenesknownasexonsare
shuffledwithinthegenome,withinasinglelocusorbetweenloci.

Suchbeneficialincreasesingenenumberappeartohaveplayedamajorroleinevolution.

Forexample,mammalianancestorscarriedasinglegenefordetectingodorsthathasbeen
duplicatedthoughvariousmutationalmechanisms.
Modernhumanshavecloseto1,000olfactoryreceptorgenes.
60%ofthesegeneshavebeeninactivatedinhumans,duetomutations.
Mice,whorelymoreontheirsenseofsmell,havelostonly20%oftheirolfactory
receptorgenes.

Mutationratesvaryfromorganismtoorganism.
Mutationratesarelowinanimalsandplants,averagingabout1mutationinevery
100,000genespergeneration.
Inmicroorganismsandviruseswithshortgenerationspans,mutationratesaremuch
higherandcanrapidlygenerategeneticvariation.

2.Sexualrecombinationalsoproducesgeneticvariation.
IG Lecture Outline 23-6

 Onagenerationtogenerationtimescale,sexualrecombinationisfarmoreimportantthan
mutationinproducingthegeneticdifferencesthatmakeadaptationpossible.

Sexualreproductionrearrangesallelesintonovelcombinationseverygeneration.

Bacteriaandvirusescanalsoundergorecombination,buttheydosolessregularlythan
animalsandplants.
Bacterialandviralrecombinationmaycrossspeciesbarriers.
C.NaturalSelection,GeneticDrift,andGeneFlowCanAlteraPopulationsGenetic
Composition
Althoughnewmutationscanmodifyallelefrequencies,thechangefromgenerationto
generationisverysmall.

Recombinationreshufflesallelesbutdoesnotchangetheirfrequency.

Threemajorfactorsalterallelefrequenciestobringaboutevolutionarychange:natural
selection,geneticdrift,andgeneflow.
1.Naturalselectionisbasedondifferentialreproductivesuccess.

Individualsinapopulationvaryintheirheritabletraits.

Thosewithvariationsbettersuitedtotheenvironmenttendtoproducemoreoffspring
thanthosewithvariationsthatarelesswellsuited.
Asaresultofselection,allelesarepassedontothenextgenerationinfrequencies
differentfromtheirrelativefrequenciesinthepresentpopulation.
Imaginethatinourimaginarywildflowerpopulation,whiteflowersaremorevisibleto
herbivorousinsectsandthushavelowersurvival.Imaginethatredflowersaremorevisibleto
pollinators.
SuchdifferencesinsurvivalandreproductivesuccesswoulddisturbtheHardyWeinberg
equilibrium.ThefrequencyoftheCWallelewoulddeclineandthefrequencyoftheCR
allelewouldincrease.
2.Geneticdriftresultsfromchancefluctuationsinallelefrequenciesinsmallpopulations.
Geneticdriftoccurswhenchangesingenefrequenciesfromonegenerationtoanother
occurbecauseofchanceevents(samplingerrors)thatoccurinsmallpopulations.
Forexample,youwouldnotbetoosurprisedifathrowncoinproducedsevenheadsand
threetailsintentosses,butyouwouldbesurprisedifyousaw700headsand300tailsin
1,000tossesyouwouldexpectcloseto500ofeach.
Thesmallerthesample,thegreaterthechanceofdeviationfromtheexpectedresult.
Inalargepopulation,allelefrequencieswillnotchangefromgenerationtogenerationby
chancealone.
However,inasmallwildflowerpopulationwithastablesizeofonlytenplants,genetic
driftcancompletelyeliminatesomealleles.
Geneticdriftatsmallpopulationsizesmayoccurasaresultoftwosituations:the
bottleneckeffectorthefoundereffect.
Thebottleneckeffect

occurswhenthenumbersofindividualsinalargepopulationare
drasticallyreducedbyadisaster.
Bychance,someallelesmaybeoverrepresentedandothersunderrepresentedamongthe
survivors.
Someallelesmaybeeliminatedaltogether.
IG Lecture Outline 23-7

Geneticdriftwillcontinuetochangethegenepooluntilthepopulationislargeenoughto
eliminatetheeffectofchancefluctuations.

Thebottleneckeffectisanimportantconceptinconservationbiologyofendangered
species.
Populationsthathavesufferedbottleneckincidentshavelostgeneticvariationfromthe
genepool.
Thisreducesindividualvariationandmayreduceadaptation.
Forexample,inthe1890s,huntersreducedthepopulationofnorthernelephantseals
inCaliforniato20individuals.
Nowthatitisaprotectedspecies,thepopulationhasincreasedtomorethan30,000.
However,astudyof24genelociinarepresentativesampleofsealsshowedno
variation.Oneallelehadbeenfixedforeachgene.
Populationsofthecloselyrelatedsouthernelephantseal,whichdidnotgothrougha
bottleneck,showabundantgeneticvariation.
Thefoundereffect

occurswhenanewpopulationisstartedbyonlyafewindividuals
whodonotrepresentthegenepoolofthelargersourcepopulation.
Atanextreme,apopulationcouldbestartedbyasinglepregnantfemaleorsingleseed
withonlyatinyfractionofthegeneticvariationofthesourcepopulation.
Geneticdriftwouldcontinuefromgenerationtogenerationuntilthepopulationgrew
largeenoughforsamplingerrorstobeminimal.
Foundereffectshavebeendemonstratedinhumanpopulationsthatstartedfromasmall
groupofcolonists.
3.Apopulationmayloseorgainallelesbygeneflow.
Geneflowisgeneticexchangeduetomigrationoffertileindividualsorgametesbetween
populations.
Forexample,ifanearbywildflowerpopulationconsistedentirelyofwhiteflowers,its
pollen(CWallelesonly)couldbecarriedintoourtargetpopulation.
ThiswouldincreasethefrequencyofCWallelesinthetargetpopulationinthenext
generation.

Geneflowtendstoreducedifferencesbetweenpopulations.
Ifextensiveenough,geneflowcanamalgamateneighboringpopulationsintoasingle
populationwithacommongenepool.
Humanstodaymigratemuchmorefreelythaninthepast,andgeneflowhasbecomean
importantagentofevolutionarychangeinhumanpopulationsthatwerepreviously
isolated.

4.Naturalselectionistheprimarymechanismofadaptiveevolution.
Ofallthefactorsthatcanchangeagenepool,onlynaturalselectionleadstoadaptation
ofanorganismtoitsenvironment.

Naturalselectionaccumulatesandmaintainsfavorablegenotypesinapopulation.

Mostpopulationshaveextensivegeneticvariation.

Notallvariationisheritable.Forexample,bodybuildersaltertheirgenotypesbutdonot
passontheirhugemusclestotheirchildren.
Onlythegeneticcomponentofvariationcanhaveevolutionaryconsequencesasaresult
ofnaturalselection.
IG Lecture Outline 23-8

Thisisbecauseonlyheritabletraitspassfromgenerationtogeneration.

D.GeneticVariationIstheSubstrateforNaturalSelection
1.Geneticvariationoccurswithinandbetweenpopulations.

Bothquantitativeanddiscretecharacterscontributetovariationwithinapopulation.

Quantitativecharactersarethosethatvaryalongacontinuumwithinapopulation.
Forexample,plantheightinawildflowerpopulationrangesfromshorttotall.
Quantitativevariationisusuallyduetopolygenicinheritanceinwhichtheadditiveeffects
oftwoormoregenesinfluenceasinglephenotypiccharacter.

Discretecharacters,suchasflowercolor,areusuallydeterminedbyasinglelocuswith
differentallelesthatproducedistinctphenotypes.
Phenotypicpolymorphismoccurswhentwoormorediscretephenotypesare
representedinhighenoughfrequenciestobenoticeableinapopulation.
Thecontrastingformsarecalledmorphs,asintheredfloweredandwhiteflowered
morphsinourwildflowerpopulation.
Humanpopulationsarepolymorphicforavarietyofphysical(e.g.,freckles)and
biochemical(e.g.,bloodtypes)characters.

Polymorphismappliesonlytodiscretecharacters,notquantitativecharacters.
Humanheight,whichvariesinacontinuum,isnotaphenotypicpolymorphism.

Populationgeneticistsmeasuregeneticvariationbydeterminingtheamountof
heterozygosityatthelevelofwholegenes(genevariability)andatthemolecularlevelof
DNA(nucleotidevariability).
Averageheterozygositymeasuresgenevariability,theaveragepercentofgenelocithat
areheterozygous.
Inthefruitfly(Drosophila

),about86%oftheir13,000genelociarehomozygous
(fixed).
About14%(1,800genes)areheterozygous.
Nucleotidevariabilitymeasuresthemeanlevelofdifferenceinnucleotidesequences
(basepairdifferences)amongindividualsinapopulation.
Infruitflies,about1%ofthebasesdifferbetweentwoindividuals.
Twoindividualsdiffer,onaverage,at1.8millionofthe180millionnucleotidesinthe
fruitflygenome.

Whydoesaverageheterozygositytendtobegreaterthannucleotidediversity?
ThisisbecauseagenecanconsistofthousandsofbasesofDNA.Adifferenceatonly
oneofthesebasesissufficienttomaketwoallelesofthatgenedifferentandcount
towardaverageheterozygosity.

Humanshaverelativelylittlegeneticvariation.
Nucleotidediversityisonly0.1%.
Youandyourneighborprobablyhavethesamenucleotideat999outofevery1,000
nucleotidesitesinyourDNA.

Geographicvariationresultsfromdifferencesinphenotypesorgenotypesbetween
populationsorbetweensubgroupsofasinglepopulationthatinhabitdifferentareas.
Naturalselectioncontributestogeographicvariationbymodifyinggenefrequenciesin
responsetodifferencesinlocalenvironmentalfactors.
IG Lecture Outline 23-9

Geneticdriftcanalsoleadtovariationamongpopulationsthroughthecumulativeeffect
ofrandomfluctuationsinallelefrequencies.

Geographicvariationcanoccuronalocalscale,within

apopulation,iftheenvironmentis
patchyorifdispersalofindividualsislimited,producingsubpopulations.Thisistermed
spatialvariation.
Geographicvariationintheformofgradedchangeinatraitalongageographicaxisis
calledacline.
Clinesmayrepresentintergradezoneswhereindividualsfromneighboring,genetically
different,populationsinterbreed.
Alternatively,clinesmayreflecttheinfluenceofnaturalselectionbasedongradationin
someenvironmentalvariable.
Forexample,theaveragebodysizeofmanyNorthAmericanspeciesofbirdsand
mammalsincreasesgraduallywithincreasinglatitude,allowingNorthernpopulations
toconserveheatincoldenvironmentsbydecreasingtheratioofsurfaceareato
volume.
2.Letstakeacloserlookatnaturalselection.
Thetermsstruggleforexistenceandsurvivalofthefittestaremisleadingbecause
theysuggestthatindividualscompetedirectlyincontests.

Insomeanimalspecies,malesdocompetedirectlyformates.

Reproductivesuccessisgenerallysubtleranddependsonfactorsotherthanbattlefor
mates.
Forexample,abarnaclemayproducemoreeggsthanitsneighborsbecauseitismore
efficientatfilteringfoodfromthewater.
Wildflowersmaybesuccessfulbecausetheyattractmorepollinators.

Theseexamplesofadaptiveadvantageareallcomponentsofevolutionaryfitness.

Fitnessisdefinedasthecontributionanindividualmakestothegenepoolofthenext
generation,relativetothecontributionsofotherindividuals.
Populationgeneticistsdefinerelativefitnessasthecontributionofagenotypetothenext
generationcomparedtothecontributionofalternativegenotypesforthesamelocus.
Considerourwildflowerpopulation.
Letsassumethatindividualswithredflowersproducefeweroffspringthanthosewith
whiteorpinkflowers,whichproduceequalnumbersofoffspring.
Therelativefitnessofthemostsuccessfulvariantsissetat1.0asabasisforcomparison,
sotherelativefitnessofwhite(CWCW)andpink(CRCW)plantsis1.0.
Ifplantswithredflowers(CRCR)produceonly80%asmanyoffspring,theirrelative
fitnessis0.8.
Althoughpopulationgeneticistsmeasuretherelativefitnessofagenotype,itisimportant
torememberthatnaturalselectionactsonphenotypes,notgenotypes.
Thewholeorganismissubjectedtonaturalselection.
Therelativefitnessofanalleledependsontheentiregeneticandenvironmentalcontext
inwhichitisexpressed.

Survivalalonedoesnotguaranteereproductivesuccess.
Relativefitnessiszeroforasterileorganism,evenifitisrobustandlonglived.

IG Lecture Outline 23-10

 Ontheotherhand,longevitymayincreasefitnessiflonglivedindividualsleavemore
offspringthanshortlivedindividuals.
Inmanyspecies,individualsthatmaturequickly,becomefertileatanearlyage,andlive
forashorttimehavegreaterrelativefitnessthanindividualsthatlivelongerbutmaturelater.
3.Therearethreemodesofselection:directional,disruptive,andstabilizing.
Naturalselectioncanalterthefrequencydistributionofheritabletraitsinthreeways,
dependingonwhichphenotypesinapopulationarefavored.

Thethreemodesofselectionarecalleddirectional,disruptive,andstabilizingselection.

Directionalselectionismostcommonduringperiodsofenvironmentalchangeorwhen
membersofapopulationmigratetoanewhabitatwithdifferentenvironmentalconditions.
Directionalselectionshiftsthefrequencycurveforaphenotypiccharacterinone
directionbyfavoringindividualswhodeviatefromtheaverage.
Forexample,fossilevidenceindicatesthattheaveragesizeofblackbearsinEurope
increasedduringeachglacialperiod,onlytodecreaseagainduringthewarmerinterglacial
periods.
Largebearshaveasmallersurfacetovolumeratioandarebetteratconservingbodyheat
duringperiodsofextremecold.
Disruptiveselectionoccurswhenenvironmentalconditionsfavorindividualsatboth

extremesofthephenotypicrangeoverthosewithintermediatephenotypes.
Forexample,twodistinctbilltypesarepresentinCameroonsblackbellied
seedcrackers.Largerbilledbirdsaremoreefficientinfeedingonhardseedsandsmaller
billedbirdsaremoreefficientinfeedingonsoftseeds.
Birdswithintermediatebillsarerelativelyinefficientatcrackingbothtypesofseedsand
thushavelowerrelativefitness.

Disruptiveselectioncanbeimportantintheearlystagesofspeciation.

Stabilizingselectionfavorsintermediatevariantsandactsagainstextremephenotypes.

Stabilizingselectionreducesvariationandmaintainsthestatusquoforatrait.
Humanbirthweightissubjecttostabilizingselection.
Babiesmuchlargerorsmallerthan34kghavehigherinfantmortalitythanaverage
sizedbabies.

4.Diploidyandbalancingselectionpreservegeneticvariation.
Thetendencyfornaturalselectiontoreducevariationiscounteredbymechanismsthat
preserveorrestorevariation,includingdiploidyandbalancedpolymorphisms.
Diploidyineukaryotespreventstheeliminationofrecessiveallelesviaselectionbecause
recessiveallelesdonotaffectthephenotypeinheterozygotes.
Evenrecessiveallelesthatareunfavorablecanpersistinapopulationthroughtheir
propagationbyheterozygousindividuals.
Recessiveallelesareonlyexposedtoselectionwhenbothparentscarrythesame
recessivealleleandcombinetworecessiveallelesinonezygote.
Thishappensonlyrarelywhenthefrequencyoftherecessivealleleisverylow.
Therarertherecessiveallele,thegreaterthedegreeofprotectionithasfromnatural
selection.

IG Lecture Outline 23-11

 Heterozygoteprotectionmaintainsahugepoolofallelesthatmaynotbesuitableunder
thepresentconditionsbutmaybecomebeneficialwhentheenvironmentchanges.

Naturalselectionitselfpreservesvariationatsomegeneloci.

Balancingselectionoccurswhennaturalselectionmaintainsstablefrequenciesoftwoor
morephenotypesinapopulation,astatecalledbalancedpolymorphism.

Onemechanismproducingbalancedpolymorphismisheterozygoteadvantage.
Insomesituations,individualswhoareheterozygousataparticularlocushavegreater
fitnessthanhomozygotes.
Inthesecases,naturalselectionwillmaintainmultipleallelesatthatlocus.

Heterozygousadvantagemaintainsgeneticdiversityatthehumangeneforonechainof
hemoglobin.
Homozygousrecessiveindividualssufferfromsicklecelldisease.
Homozygousdominantindividualsarevulnerabletomalaria.
Heterozygousindividualsareresistanttomalaria.
Thefrequencyofthesicklecellalleleishighestinareaswherethemalarialparasiteis
common.
InsomeAfricantribes,itaccountsfor20%ofthegenepool,averyhighfrequencyfor
suchaharmfulallele.
Evenatthishighfrequency,only4%ofthepopulationsuffersfromsicklecelldisease(q2
=0.20.2=0.04),while32%ofthepopulationisresistanttomalaria(2pq=20.8
0.2=0.32).
Theaggregatebenefitofthesicklecellalleleinthepopulationbalancesitsaggregate
harm.
Asecondmechanismpromotingbalancedpolymorphismisfrequencydependent
selection.
Frequencydependentselectionoccurswhenthefitnessofanyonemorphdeclinesifit
becomestoocommoninthepopulation.
Predatorsmaydevelopsearchimagesofthemostcommonformsofprey.Aprey
morphthatbecomestoocommonmaybecomedisproportionatelyvulnerableto
predation.
Frequencydependentselectionhasbeenobservedinanumberofpredatorprey
interactionsinthewild.
Somegeneticvariations,neutralvariations,

havenegligibleimpactonfitness,andthus
naturalselectiondoesnotaffectthesealleles.
Forexample,thediversityofhumanfingerprintsseemstoconfernoselectiveadvantage
tosomeindividualsoverothers.
Mostofthebasedifferencesbetweenhumansthatarefoundinuntranslatedpartsofthe
genomeappeartoconfernoselectiveadvantage.
Pseudogenes,genesthathavebecomeinactivatedbymutations,accumulategenetic
variations.
Overtime,someneutralalleleswillincreaseandotherswilldecreasebythechance
effectsofgeneticdrift.
Thereisnoconsensusamongbiologistsonhowmuchgeneticvariationcanbeclassified
asneutralorevenifanyvariationcanbeconsideredtrulyneutral.
IG Lecture Outline 23-12

Itisalmostimpossibletodemonstratethatanallelebringsnobenefitatalltoan
organism.
Also,variantallelesmaybeneutralinoneenvironmentbutnotinanother.
Evenifonlyafractionoftheextensivevariationinagenepoolsignificantlyaffectsan
organism,thereisstillanenormousreservoirofrawmaterialfornaturalselectionand
adaptiveevolution.

5.Sexualselectionmayleadtopronouncedsecondarydifferencesbetweenthesexes.
CharlesDarwinwasthefirstscientisttoinvestigatesexualselection,whichisnatural
selectionformatingsuccess.
Sexualselectionresultsinsexualdimorphism,

markeddifferencesbetweenthesexesin
secondarysexualcharacteristicsnotdirectlyassociatedwithreproduction.
Malesandfemalesmaydifferinsize,coloration,andornamentation.
Invertebrates,malesareusuallythelargerandshowiersex.

Itisimportanttodistinguishbetweenintrasexualandintersexualselection.

Intrasexualselectionisdirectcompetitionamongindividualsofonesex(usuallymales)
formatesoftheoppositesex.
Competitionmaytaketheformofdirectphysicalbattlesbetweenindividuals.
Thestrongerindividualsgainstatus.
Morecommonly,ritualizeddisplaysdiscouragelessercompetitorsanddetermine
dominance.
Evidenceisgrowingthatintrasexualselectioncantakeplacebetweenfemalesaswell.
Intersexualselectionormatechoiceoccurswhenmembersofonesex(usuallyfemales)
arechoosyinselectingtheirmatesfromindividualsoftheothersex.
Becausefemalesinvestmoreineggsandparentalcare,theyarechoosierabouttheir
matesthanmales.
Afemaletriestoselectamatethatwillconferafitnessadvantageontheirmutual
offspring.
Inmanycases,thefemalechoosesamalebasedonhisshowyappearanceorbehavior.
Somemaleshowinessdoesnotseemtobeadaptiveexceptinattractingmatesandmay
putthemaleatconsiderablerisk.
Forexample,brightplumagemaymakemalebirdsmorevisibletopredators.
Eveniftheseextravagantfeatureshavesomecosts,individualsthatpossessthemwill
haveenhancedfitnessiftheyhelpanindividualgainamate.
Everytimeafemalechoosesamatebasedonappearanceorbehavior,she
perpetuatestheallelesthatcausedhertomakethatchoice.
Shealsoallowsamalewiththatparticularphenotypetoperpetuatehisalleles.
Howdofemalepreferencesforcertainmalecharacteristicsevolve?Aretherefitness
benefitstoshowytraits?
Severalresearchersaretestingthehypothesisthatfemalesusemalesexual
advertisementstomeasurethemalesoverallhealth.
Maleswithseriousparasiticinfectionsmayhavedull,disheveledplumage.
Theseindividualsareunlikelytowinmanyfemales.
Ifafemalechoosesashowymate,shemaybechoosingahealthyone,andherbenefitis
agreaterprobabilityofhavinghealthyoffspring.
IG Lecture Outline 23-13

6.Sexisanevolutionaryenigma.

Asamechanismofrapidpopulationgrowth,sexisfarinferiortoasexualreproduction.
Considerapopulationinwhichhalfthefemalesreproduceonlyasexuallyandhalfthe
femalesreproduceonlysexually.
Assumethatbothtypesoffemalesproduceequalnumbersofoffspringeach
generation.
Theasexualconditionwillincreaseinfrequency,because:

Alloffspringofasexualfemaleswillbereproductivedaughters.

Onlyhalfoftheoffspringofsexualfemaleswillbedaughters;theother
halfwillnecessarilybemales.

Sexismaintainedinthevastmajorityofeukaryoticspecies,eventhosethatalso
reproduceasexually.
Sexmustconfersomeselectiveadvantagetocompensateforthecostsofdiminished
reproductiveoutput.
Otherwise,migrationofasexualindividualsormutationpermittingasexualreproduction
wouldoutcompetesexualindividualsandtheallelesfavoringsex.
Thetraditionalexplanationforthemaintenanceofsexwasthattheprocessofmeiosis
andfertilizationgenerategeneticvariationonwhichnaturalselectioncanact.
However,theassumptionthatsexismaintainedinspiteofitsdisadvantagesbecauseit
producesfutureadaptationinavariableworldisdifficulttodefend.
Naturalselectionactsinthepresent,favoringindividualshereandnowthatbestfitthe
current,localenvironment.
Letusinsteadconsiderhowthegeneticvariationpromotedbysexmightbeadvantageous
intheshortterm,onagenerationtogenerationtimescale.

Geneticvariabilitymaybeimportantinresistancetodisease.
Parasitesandpathogensrecognizeandinfecttheirhostsbyattachingtoreceptor
moleculesonthehostscells.
Thereshouldbeanadvantagetoproducingoffspringthatvaryintheirresistanceto
differentdiseases.
OneoffspringmayhavecellularmarkersthatmakeitresistanttovirusA,whileanother
isresistanttovirusB.
Thishypothesispredictsthatgenelocithatcodeforreceptorstowhichpathogensattack
shouldhavemanyalleles.
Inhumans,therearehundredsofallelesforeachoftwogenelocithatgivecell
surfacestheirmolecularfingerprints.
Atthesametime,parasitesevolveveryrapidlyintheirabilitytousespecifichost
receptors.
However,sexprovidesamechanismforchangingthedistributionofallelesandvarying
themamongoffspring.
Thiscoevolutioninwhichhostandparasitemustevolvequicklytokeepupwitheach
otherhasbeencalledaRedQueenrace.

7.Naturalselectioncannotfashionperfectorganisms.
Thereareatleastfourreasonsnaturalselectioncannotproduceperfection.
1. Evolutionislimitedbyhistoricalconstraints.
IG Lecture Outline 23-14

Evolutiondoesnotscrapancestralfeaturesandbuildnewcomplexstructuresorbehavior
fromscratch.
Evolutioncooptsexistingfeaturesandadaptsthemtonewsituations.
Forexample,birdsmightbenefitfromhavingwingsplusfourlegs.However,birds
descendedfromreptilesthathadonlytwopairsoflimbs.Cooptingtheforelimbsfor
flightleftonlytwohindlimbsformovementontheground.
2. Adaptationsareoftencompromises.
Eachorganismmustdomanydifferentthings.
Becausetheflippersofasealmustallowittowalkonlandandalsoswimefficiently,
theirdesignisacompromisebetweentheseenvironments.
Similarly,humanlimbsareflexibleandallowversatilemovements,butareproneto
injuries,suchassprains,tornligaments,anddislocations.
Betterstructuralreinforcementwouldcompromiseagility.
3. Chanceandnaturalselectioninteract.
Chanceeventsaffectthesubsequentevolutionaryhistoryofpopulations.
Forexample,foundersofnewpopulationsmaynotnecessarilybetheindividualsbest
suitedtothenewenvironment,butratherthoseindividualsthatwerecarriedthereby
chance.
4. Selectioncanonlyeditexistingvariations.
Naturalselectionfavorsonlythefittestvariationsfromthosephenotypesthatare
available.
Newallelesdonotariseondemand.
Naturalselectionworksbyfavoringthebestvariantsavailable.
Themanyimperfectionsoflivingorganismsareevidenceforevolution.

IG Lecture Outline 23-15