Chapter 10 - Inherited Change and Evolution

Learning Outcomes
You should be able to:

explain, with examples, how mutations and environment may affect phenotype

explain, with examples, how environmental factors act as forces of natural selection

explain how natural selection may bring about evolution

describe one example of artificial selection

VariationSexual reproduction produces genetic variation among the individuals in a

population.This genetic variation is caused by:■ independent assortment of chromosomes, and
therefore alleles, during meiosis■ crossing over between chromatids of homologous
chromosomes during meiosis

■ random mating between organisms within a species

■ random fertilisation of gametes■ mutation.The first four of these processes reshuffle existing
alleles in the population. Offspring have combinations of alleles which differ from those of their
parents and from each other. This genetic variation produces phenotypic variation.Mutation,
however, does not reshuffle alleles that are already present. Mutation can produce completely
new alleles. This may happen, for example, if a mistake occurs in DNA replication, so that a new
base sequence occurs in a gene. This is probably how the sickle cell allele of the gene for the
production of the β-globin polypeptide first arose. Such a change in a gene, which is quite
unpredictable, is called a gene mutation. The new allele is very often recessive, so it frequently
does not show up in the population until some generations after the mutation actually occurred,
when by chance two descendants of organisms in which the mutation happened mate and
produce offspring.Mutations that occur in body cells, or somatic cells, often have no effects at all
on the organism. Somatic mutations cannot be passed on to offspring by sexual reproduction.
However, mutations in cells in the ovaries or testes of an animal, or in the ovaries or anthers of a
plant, may be inherited by offspring. If a cell containing a mutation divides to form gametes,
then the gametes may also contain the mutated gene. If such a gamete is one of the two which
fuse to form a zygote, then the mutated gene will also be in the zygote. This single cell then
divides repeatedly to form a new organism, in which all the cells will contain the mutated gene.

Genetic variation, whether caused by the reshuffling of alleles during meiosis and sexual
reproduction or by the introduction of new alleles by mutation, can be passed on by parents to
their offspring, giving differences in phenotype. Genetic variation provides the raw material on
which natural selection can act. Variation within a population means that some individuals have
features that give them an advantage over other members of that population.
Variation in phenotype is also caused by the environment in which organisms live. For example,
some organisms might be larger than others because they had access to better quality food while
they were growing.

QUESTION10.1 Explain why variation caused by the environment cannot be passed from
an organism to its offspring.

Mutation effects on phenotype

Sickle cell anaemia is a good example of how a mutation on a certain gene affects the phenotype
expressed. In Chapter 8, we saw how an allele, HbS, of the gene that codes for the production of
the β-globin polypeptide can produce sickling of red blood cells. People who are homozygous
for this allele have sickle cell anaemia.

The possession of two copies of this allele obviously puts a person at a great selective
disadvantage. People who are homozygous for the sickle cell allele are less likely to survive and
reproduce. Until recently, almost everyone with sickle cell anaemia died before reaching
reproductive age. Yet the frequency of the sickle cell allele is very high in some parts of the
world. In some parts of East Africa, almost 50% of babies born are carriers for this allele, and
14% are homozygous, suffering from sickle cell anaemia. How can this be explained? The parts
of the world where the sickle cell allele is most common are also the parts of the world where
malaria is found (Figure 10.1).
Figure 10.1 the correlation between sickle cell anaemia and malaria in Africa.

Malaria is caused by a protoctist parasite, Plasmodium, which can be introduced into a person’s
blood when an infected mosquito bites (Chapter 8). The parasites enter the red blood cells and
multiply inside them. Malaria is the major source of illness and death in many parts of the world.
In studies carried out in some African states, it has been found that people who are heterozygous
for the sickle cell allele (HbS) are much less likely to suffer from a serious attack of malaria than
people who are homozygous for the HbA allele. Heterozygous people with malaria only have
about one-third the number of Plasmodium in their blood as do HbAHbA homozygotes. In one
study, of a sample of 100 children who died from malaria, all except one were HbAHbA
homozygotes, although within the population as a whole, 20% of people were heterozygotes.
There are, therefore, two strong selection pressures acting on these two alleles.■ Selection
against people who are homozygous for the sickle cell allele, HbSHbS, is very strong, because
they become seriously anaemic. ■ Selection against people who are homozygous HbAHbA, is
also very strong, because they are more likely to die from malaria. In areas where malaria is
common, heterozygotes, HbAHbS, have a strong selective advantage; they do not suffer from
sickle cell anaemia and are much less likely to suffer badly from malaria. So both alleles remain
in populations where malaria is an important environmental factor. In places where malaria was
never present, selection against people with the genotype HbSHbS has almost completely
removed the HbS allele from the population.
Environmental effects on the phenotypeIf you were able to take a number of individuals, all
with the same genotypic contribution to height, it would be most unlikely that their heights
would be exactly the same when measured. Environmental effects may allow the full genetic
potential height to be reached or may stunt it in some way. One individual might have less food,
or less nutritious food, than another with the same genetic contribution. A plant may be in a
lower light intensity or in soil with fewer nutrients than another with the same genetic potential
height.

Other examples of the effect of the environment include the development of dark tips to ears,
nose, paws and tail in the Himalayan colouring of rabbits and of Siamese and Burmese cats. This
colouring is caused by an allele which allows the formation of the dark pigment only at low
temperature. The extremities are the coldest parts of the animal, so the colour is produced there.
When an area somewhere else on its body is plucked of fur and kept cold, the new fur growing in
this region will be dark.

Natural selectionAll organisms have the reproductive potential to increase their populations.
Rabbits, for example, produce several young in a litter, and each female may produce several
litters each year. If all the young rabbits survived to adulthood and reproduced, then the rabbit
population would increase rapidly. Figure 10.2 shows what might happen. In 1859, 12 pairs of
rabbits from Britain were released on a ranch in Victoria, Australia as a source of food. The
rabbits found conditions to their liking. Rabbits feed on low-growing vegetation, especially
grasses, of which there was abundance. There were very few predators to feed on them, so the
number of rabbits soared. Their numbers became so great that they seriously affected the
availability of grazing for sheep.Such population explosions are rare in normal circumstances.
Although rabbit populations have

Figure 10.2 population increase if rabbit growth is left unchecked

the potential to increase at such a tremendous rate, they do not usually do so. As a population of
rabbits increases, various environmental factors come into play to keep down the rabbits’
numbers. These factors may be biotic – caused by other living organisms such as through
predation, competition for food, or infection by pathogens – or they may be abiotic – caused by
non-living components of the environment such as water supply or nutrient levels in the soil. For
example, the increasing numbers of rabbits eat an increasing amount of vegetation, until food is
in short supply. The larger population of rabbits may allow the populations of predators such as
foxes, stoats and weasels to increase.

Overcrowding may occur, increasing the ease with which diseases such as myxomatosis may
spread. This disease is caused by a virus that is transmitted by fleas. The closer together the
rabbits live, the more easily fleas, and therefore viruses, will pass from one rabbit to another.
These environmental factors act to reduce the rate of growth of the rabbit population. Of all the
rabbits born, many will die from lack of food, or be killed by predators, or die from
myxomatosis. Only a small proportion of young will grow to adulthood and reproduce, so
population growth slows. If the pressure of the environmental factors is sufficiently great, then
the population size will decrease. Only when the numbers of rabbits have fallen considerably
will the numbers be able to grow again. Over a period of time, the population will oscillate about
a mean level. The number of young produced is far greater than the number which will survive to
adulthood. Many young die before reaching reproductive age. What determines which will be the
few rabbits to survive, and which will die? It may be just luck. However, some rabbits will be
born with a better chance of survival than others. Variation within a population of rabbits means
that some will have features which give them an advantage in the ‘struggle for existence’.One
feature that may vary is coat colour. Most rabbits have alleles which give the normal agouti
(brown) colour. A few, however, may be homozygous for the recessive allele which gives white
coat. Such white rabbits will stand out distinctly from the others, and are more likely to be
picked out by a predator such as a fox. They are less likely to survive than agouti rabbits. The
chances of a white rabbit reproducing and passing on its alleles for white coat to its offspring are
very small, so the allele for white coat will remain very rare in the population. The term
‘fitnessʼis often used to refer to the extent to which organisms are adapted to their environment.
Fitness is the capacity of an organism to survive and transmit its genotype to its offspring.

Predation by foxes is an example of a selection pressure. Selection pressures increase the

chances of some alleles being passed on to the next generation, and decrease the chances of
others. In this case, the alleles for agouti coat have a selective advantage over the alleles for
white. The alleles for agouti will remain the commoner alleles in the population, while the alleles
for white will remain very rare. The alleles for white coat may even disappear completely.The
effects of such selection pressures on the frequency of alleles in a population are called natural
selection. Natural selection raises the frequency of alleles conferring an advantage, and reduces
the frequency of alleles conferring a disadvantage.

QUESTIONS
10.2 Hammeris a small island off the coast of Madagascar.Hares have been living on the
island for many years. There are no predators on the island.

a. Hares on Hammer are not all agouti. There are quite large numbers of rabbits of
different colours, such as black and white. Suggest why this is so.

b. What do you think might be important selection pressures acting on hares on Skomer?

EvolutionThe general theory of evolution is that organisms have changed over time. Usually,
natural selection keeps things the way they are. This is stabilising selection. Agouti rabbits are
the best adapted rabbits to survive predation, so the agouti allele remains the most common coat
colour allele in rabbit populations. Unless something changes, then natural selection will ensure
that this continues to be the case.However, if a new environmental factor or a new allele appears,
then allele frequencies may also change. This is called directional selection. A third type of
selection, called disruptive/diversifying selection, can occur when conditions favour both
extremes of a population. This type of selection maintains different phenotypes (polymorphism)
in a population. A new environmental factorImagine that we are plunged into a new Ice Age.
The climate becomes much colder, so that snow covers the ground for almost all of the year.
Assuming that rabbits can cope with these conditions, white rabbits now have a selective
advantage during seasons when snow lies on the ground, as they are better camouflaged. Rabbits
with white fur are more likely to survive and reproduce, passing on their alleles for white fur to
their offspring. The frequency of the allele for white coat increases at the expense of the allele
for agouti. Over many generations, almost all rabbits will come to have white coats rather than
agouti.

A new alleleBecause they are random events, most mutations that occur produce features that
are harmful. That is, they produce organisms that are less well adapted to their environment than
‘normal’ organisms. Other mutations may be neutral, conferring neither an advantage nor a
disadvantage on the organisms within which they occur. Occasionally, mutations may produce
useful features. Imagine that a mutation occurs in the coat colour gene of a rabbit, producing a
new allele which gives a better camouflaged coat colour than agouti. Rabbits possessing this new
allele will have a selective advantage. They will be more likely to survive and reproduce than
agouti rabbits, so the new allele will become more common in the population. Over many
generations, almost all rabbits will come to have the new allele.
Figure 10.3 the three types of natural selection and their examples.

Such changes in allele frequency in a population are the basis of evolution. Evolution occurs
because natural selection gives some alleles a better chance of survival than others. Over many
generations, populations may gradually change, becoming better adapted to their environments.
Examples of such change are the development of antibiotic resistance in bacteria (described in
the next section). In contrast, the role of malaria in the global distribution of sickle cell anaemia
is an example of how the interaction of two strong selection pressures can maintain two alleles
within certain populations (described in mutation effects on phenotype).

Antibiotic resistanceAntibiotics are chemicals produced by living organisms, which inhibit or

kill bacteria but do not normally harm human tissue. Most antibiotics are produced by fungi. The
first antibiotic to be discovered was penicillin, which was first used during the Second World
War to treat a wide range of diseases caused by bacteria. Penicillin stops cell wall formation in
bacteria, so preventing cell reproduction. When someone takes penicillin to treat a bacterial
infection, bacteria that are sensitive to penicillin die. In most cases, this is the entire population
of the disease causing bacteria. However, by chance, there may be among them one or more
individual bacteria with an allele giving resistance to penicillin. One example of such an allele
occurs in some populations of the bacterium Staphylococcus, where some individual bacteria
produce an enzyme, penicillinase, which inactivates penicillin.

As bacteria have only a single loop of DNA, they have only one copy of each gene, so the
mutant allele will have an immediate effect on the phenotype of any bacterium possessing it.
These individuals have a tremendous selective advantage. The bacteria without this allele will be
killed, while those bacteria with resistance to penicillin can survive and reproduce. Bacteria
reproduce very rapidly in ideal conditions, and even if there was initially only one resistant
bacterium, it might produce ten thousand million descendants within 24 hours. A large
population of a penicillin-resistant strain of Staphylococcus would result.Such antibiotic-resistant
strains of bacteria are continually appearing (Figure 10.4).

Figure 10.4 the development of antibiotic-resistant bacteria.

By using antibiotics, we change the environmental factors which exert selection pressures on
bacteria. A constant race is on to find new antibiotics against new resistant strains of
bacteria.Alleles for antibiotic resistance often occur on plasmids. Plasmids are quite frequently
transferred from one bacterium to another, even between different species. Thus it is even
possible for resistance to a particular antibiotic to arise in one species of bacterium, and be
passed on to another. The more we use antibiotics, the greater the selection pressure we exert on
bacteria to evolve resistance to them.

QUESTION

10.3 Suggest how each of the following might decrease the chances of an antibiotic-resistant
strain of bacteria developing:a. limiting the use of antibiotics to cases where there is a real
need
b. regularly changing the type of antibiotic that is prescribed for a particular disease

c. using two or more antibiotics together to treat a bacterial infection.

Artificial selectionSelective breeding of dairy cattleSometimes, the most important

selection pressures on organisms are those applied by humans. When humans purposefully apply
selection pressures to populations, the process is known as artificial selection.Consider, for
example, the development of modern breeds of cattle. Cattle have been domesticated for a very
long time. For thousands of years, people have tried to ‘improve’ their cattle. Desired features
include docility (making the animal easier to control), fast growth rates and high milk yields.

Increases in these characteristics have been achieved by selective breeding. Individuals showing
one or more of these desired features to a larger degree than other individuals are chosen for
breeding. Some of the alleles conferring these features are passed on to the individuals’ offspring.
Again, the ‘best’ animals from this generation are chosen for breeding.

Over many generations, alleles conferring the desired characteristics increase in frequency, while
those conferring characteristics not desired by the breeder decrease in frequency. In many cases,
such ‘disadvantageous’ alleles are lost entirely.Such selective breeding of dairy cattle presents the
breeder with problems. The animals are large and take time to reach maturity. The gestation
period is long and the number of offspring produced is small. A bull cannot be assessed for milk
production since this a sex-limited trait (note that this is not the same as sex-linked). Instead, the
performance of the bull’s female offspring is looked at to see whether or not to use the bull in
further crosses.

This is called progeny testing and is a measure of the bull’s value to the breeder. It is important to
realize that selective breeders have to consider the whole genotype of an organism, not just the
genes affecting the desired trait, such as increased milk yield. Within each organism’s genotype
are all the alleles of genes that adapt it to its particular environment. These genes are called
background genes.Suppose that the chosen parents come from the same environment and are
from varieties that have already undergone some artificial selection. It is likely that such parents
share a large number of alleles of background genes, so the offspring will be adapted for the
same environment.But suppose instead that one of the chosen parents comes from a different part
of the world. The offspring will inherit appropriate alleles from only one parent. It may show the
trait being selected for, but it may not be well adapted to its environment.

Crop improvementThe same problem is seen when a cross is made between a cultivated plant
and a related wild species. Although most species will not breed with a different species, some
can be interbred to give fertile offspring. Such species are often those that do not normally come
into contact with one another, because they live in different habitats or areas. The wild parent
will have alleles that are not wanted and which have probably been selected out of the cultivated
parent.Farmers have been growing cereal crops for thousands of years. There is evidence that
wheat was being grown in the so-called ‘fertile crescent’ – land that was watered by the rivers
Nile, Tigris and Euphrates – at least 10 000 years ago. In South and Central America, maize was
being farmed at least 7000 years ago.It was not until the 20th century that we really understood
how we can affect the characteristics of crop plants by artificial selection and selective breeding.
But, although these early farmers knew nothing of genes and inheritance, they did realize that
characteristics were passed on from parents to offspring. The farmers picked out the best plants
that grew in one year, allowing them to breed and produce the grain for the next year. Over
thousands of years, this has brought about great changes in the cultivated varieties of crop plants,
compared with their wild ancestors.Today, selective breeding continues to be the main method
by which new varieties of crop plants are produced. In some cases, however, gene technology is
being used to alter or add genes into a species in order to change its characteristics.Most modern
varieties of wheat belong to the species Triticum aestivum. Selective breeding has produced
many different varieties of wheat. Much of it is grown to produce grains rich in gluten, which
makes them good for making bread flour. For making other food products such as pastry,
varieties that contain less gluten are best. Breeding for resistance to various fungal diseases, such
as head blight, caused by Fusarium, is important, because of the loss of yield resulting from such
infections. Successful introduction of an allele giving resistance takes many generations,
especially when it comes from a wheat grown in a different part of the world. To help with such
selective breeding, the Wheat Genetic Improvement Network was set up in the UK in 2003 to
bring together research workers and commercial plant breeders. Its aim is to support the
development of new varieties by screening seed collections for plants with traits such as disease
resistance, or climate resilience, or efficient use of nitrogen fertilisers. Any plant with a suitable
trait is grown in large numbers and passed to the commercial breeders.Wheat plants now have
much shorter stems than they did only 50 years ago. This makes them easier to harvest and
means they have higher yields (because they put more energy into making seeds rather than
growing tall). The shorter stems also make the plants less susceptible to being knocked flat by
heavy rains, and means they produce less straw, which has little value and costs money to
dispose of.Most of the dwarf varieties of wheat carry mutant alleles of two reduced height (Rht)
genes. These genes code for DELLA proteins which reduce the effect of gibberellins on growth.
The mutant alleles cause dwarfism by producing more of, or more active forms of, these
transcription inhibitors. A mutant allele of a different gene, called ‘Tom Thumb’, has its dwarfing
effect because the plant cells do not have receptors for gibberellins and so cannot respond to the
hormone.Rice, Oryza sativa, is also the subject of much selective breeding. The International
Rice Research Institute, based in the Philippines, holds the rice gene bank and together with the
Global Rice Science Partnership coordinates research aimed at improving the ability of rice
farmers to feed growing populations.The yield of rice can be reduced by bacterial diseases such
as bacterial blight, and by a range of fungal diseases including various ‘spots’ and ‘smuts’. The
most significant fungal disease is rice blast, caused by the fungus Magnaporthe. Researchers are
hoping to use selective breeding to produce varieties of rice that show some resistance to all
these diseases.

Inbreeding and hybridisation in maize

Maize, Zea mays, is also known as corn in some parts of the world. It is a sturdy, tall grass with
broad, strap shaped leaves. Maize grows best in climates with long, hot summers, which provide
plenty of time for its cobs (seed heads) to ripen. It was originally grown in Central and South
America, but now it forms the staple crop in some regions of Africa, and is grown as food for
people or animals in Europe, America, Australia, New Zealand, China and Indonesia.

If maize plants are inbred (crossed with other plants with genotypes like their own), the plants in
each generation become progressively smaller and weaker. This inbreeding depression occurs
because, in maize, homozygous plants are less vigorous than heterozygous ones. Outbreeding –
crossing with other, less closely related plants – produces heterozygous plants that are healthier,
grow taller and produce higher yields.However, if outbreeding is done at random, the farmer
would end up with a field full of maize in which there was a lot of variation between the
individual plants. This would make things very difficult. To be able to harvest and sell the crop
easily, a farmer needs the plants to be uniform. They should all be about the same height and all
ripen at about the same time.So the challenge when growing maize is to achieve both
heterozygosity and uniformity. Farmers buy maize seed from companies that specialise in using
inbreeding to produce homozygous maize plants, and then crossing them. This produces F1
plants that all have the same genotype. There are many different homozygous maize varieties,
and different crosses between them can produce a large number of different hybrids, suited for
different purposes. Every year, thousands of new maize hybrids are trialled, searching for
varieties with characteristics such as high yields, resistance to more pests and diseases, and good
growth in nutrient-poor soils or where water is in short supply.

QUESTION

10.5 Use a genetic diagram to show why all the plants produced by crossing two different
homozygous strains of maize will have the same genotype.10.6 Explain why farmers need to
buy maize seed from commercial seed producers each year, rather than saving their own
seed to plant.
SUMMARY
The genotype of an organism gives it the potential to show a particular characteristic. In
many cases, the degree to which this characteristic is shown is also influenced by the
organism’s environment. Genetic variation within a population is the raw material on
which natural selection can act.

Meiosis, random mating and the random fusion of gametes produce genetic variation
within populations of sexually reproducing organisms. Variation is also caused by the
interaction of the environment with genetic factors, but such environmentally induced
variation is not passed on to an organism’s offspring. The only source of new alleles is
mutation.

All species of organisms have the reproductive potential to increase the sizes of their
populations but, in the long term, this rarely happens. This is because environmental
factors come into play to limit population growth. Such factors decrease the rate of
reproduction or increase the rate of mortality so that many individuals die before reaching
reproductive age.

Within a population, certain alleles may increase the chance that an individual will
survive long enough to be able to reproduce successfully. These alleles are, therefore,
more likely to be passed on to the next generation than others. This is known as natural
selection. Normally, natural selection keeps allele frequencies as they are; this is
stabilising selection. However, if environmental factors that exert selection pressures
change, or if new alleles appear in a population, then natural selection may cause a
change in the frequencies of alleles; this is directional selection. Over many generations,
directional selection may produce large changes in allele frequencies. This is how
evolution occurs.

The evolution of antibiotic resistance in bacteria is an example of changes in allele

frequencies. The role of malaria in the global distribution of sickle cell anaemia is an
example of how two strong opposing selection pressures can counterbalance each other in
maintaining two alleles within certain populations.

Artificial selection involves the choice by humans of which organisms to allow to breed
together, in order to bring about a desirable change in characteristics. Thus, artificial
selection, like natural selection, can affect allele frequencies in a population.