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POPULATION GENETICS
CHAPTER OUTLINE
24.1 Genes in Populations
24.2 Evolutionary Mechanisms and Their Effects
on Populations
P
opulation genetics is the study of genes and genotypes This chapter will examine the various ways that natural selec-
in a population. The central issue in population genetics tion leads to adaptation.
is genetic variation. Population geneticists want to know
the extent of genetic variation within populations, why it exists,
and how it changes over the course of many generations. Popu-
lation genetics helps us to understand how underlying genetic 24.1 Genes in Populations
variation is related to phenotypic variation, and other issues Population genetics is an extension of our understanding of Dar-
such as mate preference (see chapter opening photo). wins theory of natural selection, Mendels laws of inheritance,
Population genetics emerged as a branch of genetics in the and newer studies in molecular genetics. All of the genes in a
1920s and 1930s. Its mathematical foundations were developed population make up its gene pool. Each member of the popula-
by theoreticians who extended the principles of Mendel and Dar- tion receives its genes from its parents, which, in turn, are mem-
win by deriving equations to explain the occurrence of genotypes bers of the gene pool. Individuals that reproduce contribute to
within populations. These foundations can be largely attributed the gene pool of the next generation. Population geneticists study
to British evolutionary biologists J. B. S. Haldane and Ronald the genetic variation within the gene pool, and how such varia-
Fisher, and American geneticist Sewall Wright. As we will see, tion changes from one generation to the next. The emphasis is
several researchers who analyzed the genetic composition of often focused on an understanding of variation in alleles between
natural and experimental populations provided support for their members of a population. As discussed in Chapter 16, alleles are
mathematical theories. More recently, population geneticists different forms of the same gene. In this section, we will exam-
have used techniques to probe genetic variation at the molecu- ine some of the general features of populations and gene pools.
lar level. In addition, the staggering improvement in computer
technology has aided population geneticists in the analysis of
A Population Is a Group of Interbreeding Individuals
their genetic theories and data.
In this chapter, we will explore the extent of genetic varia- A population is a group of individuals of the same species that
tion that occurs in populations and how such variation is sub- can interbreed with one another. Certain species occupy a wide
ject to change. In many cases, such changes are associated with geographic range and are divided into discrete populations. For
adaptations, which are characteristics of a species that have example, distinct populations of a given species may be located
evolved over a long period of time by the process of natural se- on different continents. (A more detailed description of popu-
lection. The concept of adaptation was discussed in Chapter 23. lations and their native environments is given in Chapter 56.)
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Though these two frequencies are related, make sure you keep are not changing. Lets examine the Hardy-Weinberg equation
in mind a clear distinction between them. As an example, lets using the population of four oclock plants that we have just
consider a population of 100 four oclock plants with the follow- considered. If the allele frequency of R is denoted by the vari-
ing genotypes: able p, and the allele frequency of r by q, then
49 red-flowered plants with the genotype RR p q 1
42 pink-flowered plants with the genotype Rr For example, if p 0.7, then q must be 0.3. In other words, if
9 white-flowered plants with the genotype rr the allele frequency of R equals 70%, the remaining 30% of
alleles must be r, because together they equal 100%.
When calculating an allele frequency for diploid species, re- For a gene that exists in two alleles, the Hardy-Weinberg
member that homozygous individuals have two copies of an equation states that
allele, whereas heterozygotes have only one. For example, in
tallying the r allele, each of the 42 heterozygotes has one copy (p q)2 1 (Note: the number 2 in this equation reflects the
of the r allele, and each white-flowered plant has two copies. fact that the genotype is due to the inheritance of
Therefore, the allele frequency for r equals two alleles, one from each parent.)
suppose that the average reproductive successes of the three creases the mean fitness of the population. In this way, the
genotypes are: process of natural selection results in a population of organisms
that is well adapted to its native environment and likely to be
AA produces five offspring
successful at reproduction.
Aa produces four offspring
aa produces one offspring Natural Selection Can Follow Different Patterns
By convention, the genotype with the highest reproductive suc- By studying species in their native environments, population
cess is given a fitness value of 1.0. Fitness values are denoted geneticists have discovered that natural selection can occur in
by the variable W. The fitness values of the other genotypes are several ways. In most of the examples described next, natural
assigned values relative to this 1.0 value. selection leads to adaptation so that a species is better able to
Fitness of AA: WAA 1.0 survive to reproductive age.
Fitness of Aa: WAa 4/5 0.8
Directional Selection Directional selection favors individuals
Fitness of aa: Waa 1/5 0.2
at one extreme of a phenotypic distribution that have greater
Variation in fitness occurs because individuals with certain geno- reproductive success in a particular environment. Different phe-
types have greater reproductive success. Such genotypes exhibit nomena may initiate the process of directional selection. One
a higher fitness compared to others. Natural selection acts on way that directional selection may arise is that a new allele may
phenotypes that are derived from an individuals genotype. be introduced into a population by mutation, and the new allele
Likewise, the effects of natural selection can be viewed at may confer a higher fitness in individuals that carry it (Figure
the level of a population. The average reproductive success of 24.3). If the homozygote carrying the favored allele has the high-
members of a population is called the mean fitness of the pop- est fitness value, directional selection may cause this favored
ulation. Over many generations, as individuals with higher fit- allele to eventually become predominant in the population, per-
ness values become more prevalent, natural selection also in- haps even becoming a monomorphic allele.
Starting
Dark brown coloration arises population
by a new mutation. Dark
brown fur makes the mouse Number of
less susceptible to predation. individuals
The dark brown mouse has a
higher Darwinian fitness than
do the tan mice.
Many generations
Population
This population has a higher after directional
mean fitness than the starting selection
population because the darker Number of
mice are less susceptible to individuals
predation and therefore are
more likely to survive and
reproduce.
Figure 24.3 Directional selection. This pattern of natural selection selects for one extreme of a phenotype that confers the
highest fitness in the populations environment. (a) In this example, a mutation for darker fur arises in a population of mice. This new
genotype confers higher Darwinian fitness, because mice with dark fur can evade predators and are more likely to survive and reproduce.
Over many generations, directional selection will favor the prevalence of darker individuals. (b) These graphs show the change in fur color
phenotypes in this mouse population before and after directional selection.
Biological inquiry: Over the short and long run, does directional selection favor the preservation of genetic diversity?
120 BrookerWidmaierGrahamStiling: IV. Evolution 24. Population Genetics The McGrawHill
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Another possibility is that a population may be exposed to parental care and food. In addition, the strain on the parents
a prolonged change in its living environment. Under the new themselves may decrease their likelihood of survival and there-
environmental conditions, the relative fitness values may change fore their ability to produce more offspring. Having too few off-
to favor one genotype, and this will promote the elimination of spring, however, does not contribute many individuals to the
other genotypes. As an example, lets suppose a population of next generation. Therefore, the most successful parents are those
finches on a mainland already has genetic variation that affects that produce an intermediate clutch size. In the 1980s, Swedish
beak size (refer back to Figure 23.2). A small number of birds evolutionary biologist Lars Gustafsson and his colleagues exam-
migrate to an island where the seeds are generally larger than ined the phenomenon of stabilizing selection in the collared fly-
they are on the mainland. In this new environment, birds with catcher (Ficedula albicollis) on the island of Gotland south of
larger beaks would have a higher fitness because they would be Sweden. They discovered that Lacks hypothesis concerning an
better able to crack open the larger seeds, and thereby survive optimal clutch size appears to be true for this species.
to reproductive age. Over the course of many generations, direc-
tional selection would produce a population of birds carrying Disruptive Selection Disruptive selection (also known as di-
alleles that promote larger beak size. versifying selection) favors the survival of two or more different
genotypes that produce different phenotypes. In disruptive selec-
Stabilizing Selection Stabilizing selection favors the survival tion, the fitness values of a particular genotype are higher in one
of individuals with intermediate phenotypes. The extreme val- environment and lower in a different environment, while the fit-
ues of a trait are selected against. Stabilizing selection tends to ness values of the other genotype vary in an opposite manner.
decrease genetic diversity. An example of stabilizing selection Disruptive selection is likely to occur in populations that occupy
involves clutch size (number of eggs laid) in birds, which was diverse environments, so that some members of the species will
first proposed by British biologist David Lack in 1947. Under survive in each type of environmental condition. An example in-
stabilizing selection, birds that lay too many or too few eggs per volves colonial bentgrass (Agrostis tenuis). In certain locations
nest have lower fitness values than do those that lay an inter- where this grass is found, such as South Wales, isolated places
mediate number of eggs (Figure 24.4). Laying too many eggs has occur where the soil is contaminated with high levels of heavy
the disadvantage that many offspring will die due to inadequate metals such as copper due to human activities such as mining.
The relatively recent metal contamination has selected for the pro-
liferation of mutant strains that show tolerance to the heavy met-
Starting
als. Such genetic changes enable the plants to grow on contami-
nated soil but tend to inhibit growth on normal, noncontaminated
Number of nests
population
soil. These metal-resistant plants often grow on contaminated
sites that are close to plants that grow on uncontaminated land
and do not show metal tolerance (Figure 24.5).
In the case of metal-resistant and metal-sensitive grasses,
the members of a population occupy heterogeneous environ-
ments that are geographically continuous; members of the pop-
Few Number of eggs Many ulations can freely interbreed. In other cases, members of a
single species may occupy two or more different environments
that are geographically isolated from each other. Given enough
time, disruptive selection due to heterogeneous environments
Population can eventually lead to the evolution of two or more different
after species, a process that will be described in Chapter 25.
Number of nests
stabilizing
selection
Balancing Selection Contrary to a popular misconception,
natural selection does not always cause the elimination of
weaker or less fit alleles. Balancing selection is a type of nat-
ural selection that maintains genetic diversity in a population.
Over many generations, balancing selection can create a situa-
tion known as a balanced polymorphism, or a stable polymor-
Few Number of eggs Many phism, in which two or more alleles are kept in balance, and
therefore are maintained in a population over the course of
Figure 24.4 Stabilizing selection. In this pattern of natural
many generations.
selection, the extremes of a phenotypic distribution are selected
against. Those individuals with intermediate traits have the highest Balancing selection does not favor one particular allele in the
fitness. These graphs show the results of stabilizing selection population. Population geneticists have identified two common
on clutch size in a population of collared flycatchers (Ficedula ways that this pattern of selection can occur. First, for genetic
albicollis). This process results in a population with less diversity variation involving a single gene, balancing selection favors
and more uniform traits. the heterozygote rather than either corresponding homozygote.
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Number of individuals
soil do not usually carry
metal-resistant alleles.
Uncontaminated soil
Plants on contaminated
soil are likely to carry
Contaminated soil metal-resistant alleles.
Metal sensitive Metal resistant
This situation is called heterozygote advantage. Balanced poly- both yellow- and red-flowered individuals are prevalent. The
morphisms can sometimes explain the high frequency of alleles explanation for this polymorphism is related to its pollinators,
that are deleterious in a homozygous condition. A classic exam- which are mainly bumblebees such as Bombus lapidarius and
ple is the HS allele of the human -globin gene, which is de- Bombus terrestris. The pollinators increase their preference for
scribed in Chapter 14. A homozygous HSHS individual has sickle- the flower color of D. sambucina as it becomes less common in
cell anemia, a disease that leads to the sickling of the red blood a given area. One reason why this may occur is because D. sam-
cells. The HSHS homozygote has a lower fitness than a homozy- bucina is a rewardless flowerit does not provide its pollina-
gote with two copies of the more common -globin allele, tors with any reward such as sweet nectar. Pollinators are more
HAHA. However, the heterozygote, HAHS, has the highest level of likely to learn that the more common color of D. sambucina in
fitness in areas where malaria is endemic. Compared with HAHA a given area does not offer a reward, and this may explain their
homozygotes, heterozygotes have a 1015% better chance of preference for the flower color that is less common. For exam-
survival if infected by the malarial parasite, Plasmodium fal- ple, in an area where the yellow-colored flowers are common,
ciparum. Therefore, the H S allele is maintained in populations bumblebees may have learned that this color does not offer a
where malaria is prevalent, even though the allele is detrimen- reward, so they are more likely to visit red-flowered plants.
tal in the homozygous state (Figure 24.6). The balanced poly-
morphism results in a higher mean fitness of the population. In Sexual Selection Is a Type of Natural Selection
areas where malaria is endemic, a population composed of all
That Directly Promotes Reproductive Success
HAHA individuals would have a lower mean fitness.
Negative frequency-dependent selection is a second way Thus far we have mainly focused on examples of natural selec-
that natural selection can produce a balanced polymorphism. In tion that favor traits that promote the survival of individuals to
this pattern of natural selection, the fitness of a genotype de- reproductive age. This form of natural selection often produces
creases when its frequency becomes higher. In other words, rare adaptations for survival in particular environments. Now lets
individuals have a higher fitness and common individuals have turn our attention to a form of natural selection, called sexual
a lower fitness. Therefore, rare individuals are more likely to selection, that is directed at certain traits of sexually reproduc-
reproduce while common individuals are less likely, thereby ing species that make it more likely for individuals to find or
producing a balanced polymorphism in which no genotype be- choose a mate and/or engage in successful mating. Darwin
comes too rare or too common. originally described sexual selection as the advantage that cer-
An interesting example of negative frequency-dependent tain individuals have over others of the same sex and species
selection involves the elder-flowered orchid (D. sambucina), solely with respect to reproduction. Within a species, members
which was shown earlier in Figure 24.1. Throughout its range of the same sex (typically males) compete with each other for
122 BrookerWidmaierGrahamStiling: IV. Evolution 24. Population Genetics The McGrawHill
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Areas where malaria 02.5 7.510.0 (a) Intrasexual selection (b) Intersexual selection
is common 2.55.0 10.012.5
5.07.5 >12.5 Figure 24.7 Examples of the results of sexual selection, a
(a) Malaria prevalence (b) H S allele frequency (percent) type of natural selection. (a) An example of intrasexual selection.
The enlarged claw of the male fiddler crab is used in direct male-
Figure 24.6 Balancing selection and heterozygote to-male competition. In this photograph, a male inside a burrow
advantage. In this pattern of natural selection, genetic diversity is extending its claw out of the burrow to prevent another male
is maintained in a population. This example shows balancing from entering. (b) An example of intersexual selection. Female
selection maintaining two alleles of the -globin gene, designated peacocks choose males based on their colorful and long tail
HA and HS, in human populations in Africa. This situation occurs feathers, and the robustness of their display.
due to heterozygote advantage, because the heterozygous con-
dition confers resistance to malaria. (a) The geographic prevalence
of malaria in Africa. (b) The frequency of the H S allele of the Now lets consider an example of intersexual selection,
-globin gene in the same area. In the homozygous condition, namely female choice. This type of sexual selection often results
the HS allele causes the disease sickle-cell anemia. However, this in showy characteristics in males. Figure 24.7b shows a classic
sickle-cell allele is maintained in human populations as a balanced example that involves the Indian peacock (Pavo cristatus), the
polymorphism, because in areas where malaria is prevalent, the
national bird of India. Male peacocks have long and brightly
heterozygote carrying one copy of the HS allele has a higher fitness
colored tail feathers, which they fan out as a mating behavior.
than either of the corresponding homozygotes (HAHA and HSHS).
Females select among males based on feather color and pattern
and physical prowess of the display.
the opportunity to mate with members of the opposite sex. Such A less obvious type of intersexual selection is cryptic fe-
competition results in sexual selection. male choice, in which the female reproductive system can influ-
In many species of animals, sexual selection affects male ence the relative success of sperm. As an example of cryptic
characteristics more intensely than it does female. Unlike fe- female choice, the female genital tract of certain animals selects
males, which tend to be fairly uniform in their reproductive suc- for sperm that tend to be genetically unrelated to the female.
cess, male success tends to be more variable, with some males Sperm from males closely related to the female, such as broth-
mating with many females and others not mating at all. (See ers or cousins, are less successful than are sperm from geneti-
Chapter 55 for a discussion of different mating strategies be- cally unrelated males. The selection for sperm may occur over
tween the sexes.) Sexual selection results in the evolution of the journey through the reproductive tract. The egg itself may
traits, called secondary sexual characteristics, that favor repro- even have mechanisms to prevent fertilization by genetically
ductive success. The result of this process is sometimes a signif- related sperm. Cryptic female choice occurs in species in which
icant difference between the appearances of the sexes in the females may mate with more than one male, such as many spe-
same species, a situation called sexual dimorphism. cies of reptiles and ducks. A similar mechanism is found in many
Sexual selection can be categorized as either intrasexual plant species in which pollen from genetically related plants,
selection, between members of the same sex, or intersexual perhaps from the same flower, is unsuccessful at fertilization,
selection, between members of the opposite sex. Lets begin while pollen from unrelated plants is successful. One possible
with intrasexual selection. Examples of traits that result from advantage of cryptic female choice is that it inhibits inbreeding,
intrasexual selection in animals include horns in male sheep, which is described later in this chapter. At the population level,
antlers in male moose, and the enlarged claw of male fiddler cryptic female choice may promote genetic diversity by favoring
crabs (Figure 24.7a). In many animal species, males directly interbreeding among genetically unrelated individuals.
compete with each other for the opportunity to mate with fe- Sexual selection is sometimes a combination of both intra-
males, or they may battle for a particular territory. In fiddler sexual and intersexual selection. During breeding season, male
crabs (Uca paradussumieri), males enter the burrows of females elk (Cervus elaphus) become aggressive and bugle loudly to chal-
that are ready to mate. If another male attempts to enter the lenge other male elk. Males spar with their antlers, which usually
burrow, the male already inside the burrow stands in the bur- turns into a pushing match to determine which elk is stronger.
row shaft and blocks the entrance with his enlarged claw. Female elk then choose the strongest bulls as their mates.
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Sexual selection can explain traits that may decrease an in- By comparison, females may produce relatively few offspring
dividuals chances of survival but increase their chances of re- and their reproductive success may not be limited by the num-
producing. For example, the male guppy (Poecilia reticulata) is ber of available males. Females will have higher fitness if they
brightly colored compared to the female. In nature, females pre- choose males that are good defenders of their territory, and have
fer brightly colored males. Therefore, in places with few preda- alleles that confer a survival advantage to their offspring. One
tors, the males tend to be brightly colored. However, in places measure of alleles that confer higher fitness is age. Males that
where predators are abundant, brightly colored males are less live to an older age are more likely to carry beneficial alleles.
plentiful because they are subject to predation. In this case, the Many research studies involving female choice have shown that
relative abundance of brightly and dully colored males depends females tend to select traits that are more likely to be well de-
on the balance between sexual selection, which favors bright veloped in older males than they are in immature males. In cer-
coloring, and escape from predation, which favors dull coloring. tain species of birds, for example, females tend to choose males
Many animals have secondary sexual characteristics, and with a larger repertoire of songs, which is more likely to occur
evolutionary biologists generally agree that sexual selection is in older males.
responsible for such traits. But why should males compete, and Overall, sexual selection is a form of natural selection in
why should females be choosy? Researchers have proposed var- which the evolution of certain traits occurs differently between
ious hypotheses to explain the underlying mechanisms. One the two sexes. Sexual selection is not some extra force in oppo-
possible reason is related to the different roles that males and sition to natural selection. It is governed by the same processes
females play in the nurturing of offspring. In some species, the involved in the evolution of traits that are not directly related to
female is the primary caregiver, while the male plays a minor sex. Sexual selection can be directional, stabilizing, disruptive,
role. In such species, the Darwinian fitness of males and females or balancing. For example, directional selection probably played
may be influenced by their mating behavior. Males increase an important role in the evolution of the large and brightly col-
their fitness by mating with multiple females. This increases ored tail of the male peacock. As described next, sexual selection
their likelihood of passing their genes on to the next generation. can be diversifying if females select for males with different traits.
Figure 24.9 A study by Seehausen and van Alphen involving the effects of male coloration on female choice in African cichlids.
HYPOTHESIS Female African cichlids choose mates based on the males coloration.
STARTING MATERIALS Two species of cichlid, Pundamilia pundamilia and Pundamilia nyererei, were chosen. The males differ with regard to
their coloration. A total of 8 males and 8 females (4 males and 4 females from each species) were tested.
3 THE DATA
*A positive encounter occurred when a males lateral display was followed by the female approaching the male.
both species look similar under these conditions. As shown in and female begins when a male swims toward a female and ex-
Figure 24.9, a female of one species was placed in an aquarium hibits a lateral display (that is, shows the side of his body to the
that contained one male of each species within an enclosure. female). If the female is interested, she will approach the male,
The males were within glass enclosures to avoid direct compe- and then the male will display a quivering motion. Such court-
tition with each other, which would have likely affected female ship behavior was examined under normal light and under orange
choice. The goal of the experiment was to determine which of monochromatic light.
the two males a female would prefer. Courtship between a male
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As seen in the data, Seehausen and van Alphen found that mating with P. nyererei males. In this case, sexual selection ap-
the females preference for males was dramatically different de- pears to have followed a diversifying mechanism in which cer-
pending on the illumination conditions. Under normal light, P. tain females prefer males with one color pattern while other
pundamilia females preferred P. pundamilia males, and P. nye- females prefer males with a different color pattern. When this
rerei females preferred P. nyererei males. However, such mating occurs, a possible outcome of such sexual selection is that it can
preference was lost under orange monochromatic light. If the separate one large population into smaller populations that selec-
light conditions in their native habitats are similar to the normal tively breed with each other, and eventually become distinct
light used in this experiment, female choice would be expected species. The topic of species formation is discussed in greater
to separate cichlids into two populationsP. pundamilia fe- depth in Chapter 25.
males mating with P. pundamilia males and P. nyererei females
0.75 In a large
Thus far, we have focused on natural selection as an evolution- population,
ary mechanism that fosters genetic change. Lets now turn our N 1,000 many more
0.5 generations are
attention to other ways that the gene pool of a population can required before
change. In the 1930s, Sewall Wright played a large role in de- N 10 the allele is
veloping the concept of random genetic drift, which refers to eliminated or
0.25
fixed.
changes in allele frequencies due to random sampling error.
The term genetic drift is derived from the observation that
0.0
allele frequencies may drift randomly from generation to 0 10 20 30 40 50 All bb
generation as a matter of chance. Although the Darwinian fit- Generations
ness values of particular genotypes allow researchers to predict
the allele frequencies of a population in future generations, Figure 24.10 Genetic drift and population size. This graph
random sampling error, or deviation between observed and pre- shows a hypothetical simulation of random genetic drift and its
dicted values, can arise due to random events that are unre- effects on small and large populations of black (B allele) and
lated to fitness. For example, an individual with a high fitness white (b allele) mice. In all cases, the starting allele frequencies
are B 0.5 and b 0.5. The red lines illustrate two populations
value may, as a matter of bad luck, not encounter a member of
of mice in which N 10. The blue line shows a population in
the opposite sex. Changes in allele frequencies due to genetic which N 1,000. Genetic drift leads to random changes in allele
drift happen regardless of the fitness of individuals that carry frequencies, eventually causing either the elimination or fixation
those alleles. Likewise, random sampling error can influence of alleles. This happens much more quickly in small populations
which alleles happen to be found in the gametes that fuse with than it does in large ones. In this simulation, genetic drift has
each other in a successful fertilization. led to small populations of all-black (BB) or all-white (bb) mice
What are the effects of genetic drift? Over the long run, in 50 generations or less.
genetic drift favors either the loss or the fixation of an allele
when its frequency reaches 0% or 100% in a population, re-
spectively. The rate at which an allele is either lost or fixed ated much less. As discussed in Chapter 16, the relative effects of
depends on the population size. Figure 24.10 illustrates the random sampling error are much less when the sample size is
potential consequences of genetic drift in one large (N 1,000) large. Nevertheless, genetic drift will eventually lead to allele
and two small (N 10) populations. This simulation involves loss or fixation even in large populations, but this will take many
the frequency of hypothetical B and b alleles of a gene for fur more generations to occur than it does in small populations.
color in a population of miceB is the black allele and b is the In nature, genetic drift may rapidly alter allele frequencies
white allele. At the beginning of this hypothetical simulation, when population sizes are small. One example is called the bot-
which runs for 50 generations, all of these populations had tleneck effect. A population can be reduced dramatically in
identical allele frequencies: B 0.5 and b 0.5. In the small size by events such as earthquakes, floods, drought, and human
populations, the allele frequencies fluctuated substantially from destruction of habitat. Such occurrences may randomly elimi-
generation to generation. Eventually, in one simulation, the B nate most of the members of the population without regard
allele was eliminated, while in the other, it was fixed at 100%. to genetic composition. The period of the bottleneck, when the
These small populations would then consist of only white mice population size is very small, may be influenced by genetic drift.
or black mice, respectively. At this point, the allele has become This may happen primarily for two reasons. First, the surviving
monomorphic and cannot fluctuate any further. By compari- members may have allele frequencies that differ from those of
son, the frequencies of B and b in the large population fluctu- the original population. Second, allele frequencies are expected
126 BrookerWidmaierGrahamStiling: IV. Evolution 24. Population Genetics The McGrawHill
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G
C
GG
main idea is that much of the modern variation in gene sequences GGG
is explained by neutral variation rather than adaptive variation.
The sequencing of genomes from many species supports G GGG GGG
G GGG
the neutral theory of evolution. When we examine changes of G GGG
the coding sequence within structural genes, we find that nucleo-
G
GGG
G
tide substitutions are more prevalent in the third base of a codon GG
G
G GGG G
than they are in the first or second base. Mutations in the third GG
base are often neutral because they may not change the amino
acid sequence of the protein (refer back to Table 12.1). In con-
trast, random mutations at the first or second base are more
Genetic drift occurs over the
likely to be harmful than beneficial and tend to be eliminated course of many generations.
from a population. In addition, when mutations do change the
coding sequence, they are more likely to involve conservative
substitutions. For example, the difference between two alleles
GGC
of a given gene may be the replacement of a nonpolar amino GGC G
GG GG
acid with another nonpolar amino acid. This change is conser- G
vative in the sense that it is less likely to affect protein function.
In general, the DNA sequencing of hundreds of thousands GGG
C
GGC
GG
of different genes from hundreds of species has provided com- GGC
pelling support for the neutral theory of evolution. However, the
argument is by no means resolved. Certain geneticists, called G G GGC
G GGC GG
selectionists, oppose the neutralist theory. They often present G GGG
persuasive theoretical arguments in favor of natural selection as C
G
GGG GGC
argument is largely a quantitative rather than a qualitative one. GG
Each school of thought accepts that genetic drift and natural
selection both play key roles in evolution. The neutralists argue
that most genetic variation arises from neutral genetic muta- Figure 24.12 Neutral evolution in a population. In this
tions and genetic drift, whereas the selectionists argue that ben- example, a mutation within a gene (each gene shown represents
eficial mutations and natural selection are primarily responsible. a member of the population) changes a glycine codon from GGG
to GGC, which does not affect the amino acid sequence of the
encoded protein. Over the course of many generations, genetic
Migration Between Two Populations Tends drift may cause this neutral allele to become prevalent in the
to Increase Genetic Variation population, perhaps even monomorphic.
Cc Cc Cc Cc
Allele II-1 II-2 II-3 II-4
variant 1
Pass
cc
IV-1
whereas isolated populations are more disparate, due to the Another form of nonrandom mating involves the choice of
effects of natural selection and genetic drift. Second, migration mates based on their genetic history rather than their pheno-
tends to enhance genetic diversity within a population. As dis- types. Individuals may choose a mate who is part of the same
cussed earlier in this chapter, new mutations are relatively rare genetic lineage. The mating of two genetically related individu-
events. Therefore, a new mutation may arise in only one popu- als, such as cousins, is called inbreeding. This sometimes occurs
lation. Migration may then introduce this new allele into a neigh- in human societies and is more likely to take place in nature
boring population. when population size becomes very small.
In the absence of other evolutionary forces, nonrandom
mating does not affect allele frequencies in a population. How-
Nonrandom Mating Affects the Relative ever, it will disrupt the balance of genotypes that is predicted by
Proportion of Homozygotes and Heterozygotes the Hardy-Weinberg equilibrium. As an example, lets consider
inbreeding in a family pedigree. Figure 24.14 illustrates a human
in a Population
pedigree involving a mating between cousins. Individuals III-2 and
As mentioned earlier in this chapter, one of the conditions re- III-3 are cousins and have produced the daughter labeled IV-1.
quired to establish the Hardy-Weinberg equilibrium is random She is said to be inbred, because her parents are genetically
mating. This means that individuals choose their mates irrespec- related. The parents of an inbred individual have one or more
tive of their genotypes. In many cases, particularly in human common ancestors. In the pedigree of Figure 24.14, I-2 is the
populations, this condition is frequently violated. Such nonran- grandfather of both III-2 and III-3.
dom mating takes different forms. Assortative mating occurs Inbreeding increases the relative proportions of homozy-
when individuals with similar phenotypes are more likely to gotes and decreases the likelihood of heterozygotes in a popula-
mate. If the similar phenotypes are due to similar genotypes, tion. This is because an inbred individual has a higher chance of
assortative mating tends to increase the proportion of homozy- being homozygous for any given gene than does a noninbred in-
gotes and decrease the proportion of heterozygotes in the popu- dividual, because the same allele for that gene could be inherited
lation. The opposite situation, where dissimilar phenotypes twice from a common ancestor. For example, lets suppose that
mate preferentially, is called disassortative mating. This type of individual I-2 is a heterozygote, Cc (see red lines in Figure 24.14).
mating favors heterozygosity. The c allele could pass from I-2 to II-2 to III-2, and finally to IV-1.
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Likewise, the c allele could pass from I-2 to II-3 to III-3, and In natural populations, inbreeding will lower the mean fit-
then to IV-1. Therefore, IV-1 has a chance of being homozygous ness of the population if homozygous offspring have a lower fit-
because she inherited both copies of the c allele from a com- ness value. This can be a serious problem as natural populations
mon ancestor of both of her parents. Inbreeding does not favor become smaller due to human habitat destruction. As the pop-
any particular alleleit does not favor c over Cbut it does ulation shrinks, inbreeding becomes more likely because indi-
increase the likelihood that an individual will be homozygous viduals have fewer potential mates from which to choose. The
for any given gene. inbreeding, in turn, produces homozygotes that are less fit,
Although inbreeding by itself does not affect allele frequen- thereby decreasing the reproductive success of the population.
cies, it may have negative consequences with regard to reces- This phenomenon is called inbreeding depression. Conserva-
sive alleles. Rare recessive alleles that are harmful in the homo- tion biologists sometimes try to circumvent this problem by
zygous condition are found in all populations. Such alleles do not introducing individuals from one population into another. For
usually pose a problem because heterozygotes carrying a rare example, the endangered Florida panther (Felis concolor coryi)
recessive allele are also rare, making it very unlikely that two suffers from inbreeding-related defects, which include poor
heterozygotes will mate with each other. However, when inbreed- sperm quality and quantity, and morphological abnormalities.
ing is practiced, homozygous offspring are more likely to be To alleviate these effects, individuals from Texas have been in-
produced. For example, rare recessive diseases in humans are troduced into the Florida population of panthers.
more frequent when inbreeding occurs.
The neutral theory of evolution by Kimura indicates that much 6. In a population of fish, body coloration varies from a light shade,
of the genetic variation observed in populations is due to the almost white, to a very dark shade of green. If changes in the
accumulation of neutral genetic changes. (Figure 24.12) environment resulted in decreased predation of individuals with
the lightest coloration, this would be an example of ____________
Gene flow occurs when individuals migrate between different
selection.
populations and cause changes in the genetic composition of the
a. disruptive
resulting populations. (Figure 24.13)
b. stabilizing
Inbreeding is a type of nonrandom mating in which genetically c. directional
related individuals mate with each other. This tends to increase d. sexual
the proportion of homozygotes relative to heterozygotes. When e. artificial
homozygotes have lower fitness, this phenomenon is called
7. Considering the same population of fish described in question 6,
inbreeding depression. (Figure 24.14)
if the stream environment included several areas of sandy, light-
colored bottom areas and lots of dark-colored vegetation, both the
light- and dark-colored fish would have selective advantage and
increased survival. This type of scenario could explain the
occurrence of
a. genetic drift.
b. disruptive selection.
TEST YOURSELF
c. mutation.
1. Population geneticists are interested in the genetic variation in d. stabilizing selection.
populations. The most common type of genetic change that can e. sexual selection.
cause polymorphism in a population is
8. The microevolutionary force most sensitive to population size is
a. a deletion of a gene sequence.
a. mutation.
b. a duplication of a region of a gene.
b. migration.
c. a rearrangement of a gene sequence.
c. selection.
d. a single-nucleotide substitution.
d. genetic drift.
e. an inversion of a segment of a chromosome.
e. all of the above.
2. The Hardy-Weinberg equation characterizes the genotype frequencies
9. The neutral theory of evolution differs primarily from Darwinian
and allele frequencies
evolution in that
a. of a population that is experiencing selection for mating success.
a. neutral theory states natural selection does not exist.
b. of a population that is extremely small.
b. neutral theory states that most of the genetic variation in a
c. of a population that is very large and not evolving.
population is due to neutral mutations, which do not alter
d. of a community of species that is not evolving.
phenotypes.
e. of a community of species that is experiencing selection.
c. neutral variation alters survival and reproductive success.
3. Considering the Hardy-Weinberg equation, what portion of the d. neutral mutations are not affected by population size.
equation would be used to calculate the frequency of individuals e. both b and c.
that do not exhibit a disease but are carriers of a recessive genetic
10. Populations that experience inbreeding may also experience
disorder?
a. a decrease in fitness due to an increased frequency of recessive
a. q
genetic diseases.
b. p2
b. an increase in fitness due to increases in heterozygosity.
c. 2pq
c. very little genetic drift.
d. q2
d. no apparent change.
e. both b and d
e. increased mutation rates.
4. Which of the following does not alter allele frequencies?
a. selection
b. immigration
c. mutation
d. inbreeding
e. emigration
5. Which of the following statements is correct regarding mutations?
a. Mutations are not important in evolution.
1. Explain the five conditions that are required for Hardy-Weinberg
b. Mutations provide the source for genetic variation that other
equilibrium.
evolutionary forces may act upon.
c. Mutations occur at such a high rate that they promote major 2. List and define the four types of selection.
changes in the gene pool from one generation to the next. 3. Define the founder effect.
d. Mutations are insignificant when considering evolution of a large
population.
e. Mutations are of greater importance in larger populations than
in smaller populations.
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This website includes answers to the Biological Inquiry questions
1. What hypothesis is tested in the Seehausen and van Alphen found in the figure legends and all end-of-chapter questions.
experiment?
2. Describe the experimental design for this study, illustrated in Figure
24.9. What was the purpose of conducting the experiment under the
two different light conditions?
3. What were the results of the experiment in Figure 24.9?