The
phenotype of an individual is determined by the genotype of the individual
(or the specific alleles and allele combinations it has inherited from
its two parents), the environment that the individual was raised
in, and an interaction between the individual’s genes and its
environment. For example, an individual’s height is determined
by: his genes (are his parents relatively tall or short?), his environment
(was he adequately nourished growing up or deprived of appropriate nutrition?),
and the interaction between his genes and environment (how are his height-determining
genes influenced by his environment?).
This G*E interaction can be most easily understood with an example.
What does it mean if you inherit alleles that make you susceptible to
alcoholism (or cancer, or cardiovascular disease, etc.)? It does not
mean that you are destined to become an alcoholic. However, it does
mean that you are more likely to become an alcoholic than somebody
who does not have the same genotype. In other words, some people have
an inherited predisposition to become alcoholics. Whether you actually
get the disease (i.e. display the disease phenotype) will be influenced
by your particular lifestyle (i.e. your environment). If you never drink
alcohol, you will not become an alcoholic, regardless of any genetic
predisposition. However, if you do drink, even if you drink exactly
the same amount as your friends who do not have this predisposition,
you may be more likely to become an alcoholic than they will. This is
due to the interaction between your particular genotype with your particular
environment.
To summarize, the phenotypic trait of an individual organism are influenced
by both the genes it inherits from its parents, and the environment
in which it was raised. When the individuals within a population differ
in a phenotypic trait, the population is said to exhibit variation for
that trait.
Populations
and Variation
Variation
is a property of a population1.
Variation occurs when individuals within a population differ in their
characteristics. There are two general categories of variation: discrete
and continuous.
Discretely varying traits are traits that can be put into categories,
like eye color (see Figure 1). Mendel’s garden peas displayed
discrete variation in seed color and texture. Seeds
were either yellow or green, smooth orwrinkled. Discretely varying traits
are usually influenced by only one or a few genes. They can also be
influenced by environment, although usually not significantly.
Continuously
varying traits cannot easily be put into categories. Instead, variation
in these types of traits is best represented in a frequency distribution
or histogram, since continuous traits vary along a continuum.
Height (in humans or plants, etc.) is an example (see Figure 2).
This type of trait is usually measured with some sort of numerical unit
(e.g. centimeters for height or kilograms for weight). Continuous traits,
which comprise most morphological characters, are usually influenced
by many different genes as well as environment.
When
only one or a few genes determine a phenotypic trait, it is a simple
matter to determine how much genetic variation there is in a population
(e.g. Mendel’s peas). However, for continuous (or quantitative)
traits, it becomes more complicated. This is because phenotypic variation
within a population is caused by differences in the genes among individuals,
as well as the differences in the environment among individuals. This
can be represented in the following equation:
VP
= VG + VE
VP
= Phenotypic variance within a population
VG = Variance due to genotypic effects
VE = Variance due to environmental effects
Variance is a statistical measure of the dispersion in a frequency
distribution. In other words, how “spread out” is the
distribution (see Figure 3).
Mathematically,
the variance is the average of the squared deviation of observations
from the arithmetic mean. It is also the square of the standard deviation.
For our purposes, variance is a measure of how much variation is in
a population.
Variation in a population due to genetic differences among individuals
(VG ) is what is important to evolution. For example, if natural
selection is imposed on a variable trait in a population, the extent
that the population can respond to the selection (i.e. evolve) depends
on how much of the phenotypic variation in the trait is determined by
genes. If the trait is heavily influenced by genes, then you should
see a change in the variation in the trait in the next generation (i.e.
it will evolve). If it is heavily influenced by environment, you will
not see a difference in the variation in the trait in the next generation
(it will not evolve).
Going back to our example of height, we have seen that an individual’s
height is influenced by both genotype and environment, and that populations
display a lot of variation in height. Variation in height that is due
to individual differences in the environment in which they were raised
cannot evolve. Only variation in height that is due to differences in
alleles among individuals can evolve. For example, say that tallness
is favored by natural selection, and that height is completely determined
by the environment. Tall individuals will produce more offspring than
short individuals; therefore, most of the kids in the next generation
will have come from tall individuals. However, since the genes of tall
individuals are not necessarily different from the genes of shorter
individuals, height will not evolve. The height of the kids in the next
generation will solely depend on the environment of that generation
(not on their genes). On the other hand, if height has a strong genetic
influence, then the population will evolve. Tall individuals will produce
more offspring than shorter individuals, and those offspring will inherit
the tall genes. Since most of the kids in the next generation will have
come from tall individuals, and they have inherited the tall genes,
there will be more tall individuals in the next generation (regardless
of environment); height has evolved.
To summarize, genes and environment influence how individuals look (i.e.
phenotypes), and this in turn contributes to variation, a property of
populations. Only variation that is caused by different genes among
individuals can evolve. What then, causes genetic variation?
The
Causes of Genetic Variation
The
ultimate source of all genetic variation is mutation—changes
to the DNA itself. This is the only way new alleles (varieties of a
gene) are produced. If mutations occur in a germ (reproductive) cell,
then it can be transmitted to the next generation. If they occur in
somatic (non-reproductive) cells, they are not passed on to the next
generation.
Mutations are rare events: the average rate of mutation is about one
per 100,000 genes. Thus it would take on average 100,000 generations
for a mutation to occur at any one specific gene. However, each individual
has many, many functional genes. Thus, at the level of the whole individual,
mutations actually occur quite often. It is estimated that each human
gamete (egg or sperm cell) has on average one mutation.
Mutations
can be harmful, they can be beneficial, or they can be neutral (neither
harmful or beneficial). The effect of the mutation will often depend
on the current environment of the organism. For example, a mutation
that confers resistance to DDT in mosquitoes is harmful to the mosquito
possessing it, unless that mosquito happens to be in an environment
where DDT is being used. Note that “harmful” does not necessarily
mean “deadly.” Some harmful mutations are lethal to the
organism, but other harmful mutations are just “not as good”
as the other alleles in the population (e.g. they may cause the individual
to grow slower than those without the mutation). These mutations are
selected against, but the selection is not as strong as it is for a
lethal mutation.
Another cause of genetic variation in sexual organisms is recombination.
Recombination (the two processes of independent assortment and crossing
over) produces gametes with chromosomes with unique sequences. Recombination
produces new combinations of alleles at different genes (i.e. combinations
that are different from the parent). As a result of recombination, each
gamete produced by a single sexually reproducing individual is uniquely
different from all other gametes. As an exercise, calculate how many
possible types of gametes can be produced by an individual that is variable
at 10 genes (i.e. the individual is heterozygous at 10 genes). Answer2
Another
cause of genetic variation within a population is gene flow. When
an individual organism moves into a new population, it brings its alleles
into the new population. Some of these alleles may be different from
the alleles that are currently in the population. When new alleles are
brought into a population through gene flow, the genetic variation within
the population has increased.
Note that recombination and gene flow work by re-organizing and re-arranging
existing alleles. Mutation is the only source of completely new alleles.
Lessons About
Heredity and Variation
Heredity
Access
excellence has a couple of activities that investigate inheritance:
“A
Mix-up at the Hospital” and “A
Paternity Case.” Both of these activities use DNA typing
to match babies with parents, and to determine potential paternity,
respectively.
For something a little different, check out “’Chips’
off the Old Block?” This activity has students bake cookies
from the same recipe, with some students using recipes with a “mutation.”
They then try to identify from the cookies’ “phenotypes”
which recipes (genotypes) had the mutations. You could also bring up
potential differences in phenotypes due to differences in their “environment”
(i.e. different students baking).
Variation
The
simplest way to get across the idea that there is an abundance of variation
in natural populations is to have students measure the same trait in
50 – 100 individuals. This can be something really easy, like
beans from a grocery store, or something a little more complicated (but
potentially much more interesting), like wild collected plants or animals.
Collect individual plants or animals from a single species (either as
a class field trip or by yourself) and bring them to the classroom to
measure. Be sure to collect actual individuals, and not just different
parts from one individual (such as 100 leaves from one tree). Have
the students choose a trait to measure (or have them all measure one
trait you choose), collect data and graph it (frequency histogram).
[[Link to variation
worksheet—separate file]]
“Sampling
Variation in a Natural Population” at the Access Excellence
site has a nice description of a student project in which they go out
on their own and find a species with which they collect their own data.
Throughout the semester, have them keep in mind (by continuously
pointing out) that, in order for evolution to occur, there has to be
variation. When you talk about mutations, tell them that when
a new mutation occurs in a population, this mutation has brought variation
into the population. Natural selection (or other causes of evolution)
can now act on that variation—is this new mutation beneficial
or harmful? Also, when doing other activities, for example on natural
selection, point out variation within the population. If you do a natural
selection simulation exercise, point out that there is variation in
the population (red chips, yellow chips, blue chips and white chips),
and that this variation is a prerequisite for selection to occur.
Resource
List