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What does it mean for a population to evolve? In its simplest, evolution happens when the frequency of
individuals with certain genetic traits (genotype or allele frequencies) changes in a population over
generations. This is often called microevolution. Macroevolution is the study of large changes in
phenotype and the evolution of new species.
Each individual is born with all the genetic variety it will ever have. With very specific exceptions, this will
not change, therefore: AN INDIVIDUAL CANNOT EVOLVE!
Note: individual in this case is a single member of any given species, not just a human individual.
The basis for microevolution is also the cornerstone of population genetics.
HARDY-WEINBERG
After the rediscovery of Mendels paper, some argued that it would not work because the
dominant allele would increase in a population. Others found that no, without some force acting
on it, the frequencies would remain stable. In 1908, this disagreement was introduced to a British
mathematician named G.H. Hardy by his cricket buddy, Reginald Punnett (whose squares you
may know). Hardy figured out what really happens.
Turns out that a German Jewish physician and obstetrician-gynecologist was working on the same
problem at the same time. His name was Wilhelm Weinberg (since he is German, it is pronounced
Vine-berg). Actually, Weinberg presented his ideas publically before Hardy, but since genetics at the
time was dominated by English-speakers, his work was mostly ignored and this concept was called
Hardys law or Hardys formula for some time.
Glossary:
A gene is a section of DNA that serves a specific function (like coding for a protein).
An allele is a version of a gene. There can be any number of versions (differences in DNA sequence, for
example) of a gene in a population, but individuals are limited to one or two per gene.
A genotype refers to both copies of the gene in an individual (one from mommy and one from daddy). An
individual can be homozygous if both copies are the same, or heterozygous if it has different versions (or
alleles).
A phenotype is the outward appearance of a genotype. What the genes do. What the thing looks like.
An individual is a single organism.
A population is a group of individuals that live in the same place at the same time. All the individuals are the
same species.
A species is all the populations of individuals that share many anatomical features and can breed together to
produce viable offspring. Therefore, species are made of populations, which are made of individuals which are
made of genes..
Just like we use a Punnett square to predict the outcome of a cross between individuals, we can use a Punnett
square to predict the likelihood of producing offspring with a given genotype. All we have to do is to (1)
make some assumptions, namely that the chances of any given sperm meeting any given egg is random, in
other words, the population is mating randomly, and (2) determine the frequency of each allele in the
population.
Possible
Number of
Lets say a population has two alleles, A1 and A2, and there are this many Genotypes Individuals
individuals with each genotype:
123
A1 A1
45
A1 A2
7
A2 A2
Each individual is diploid, so they each have two copies of each gene. Therefore, TOTAL:
175
since 123 individuals have two copies of the A1 allele (because they are
homozygous) and 45 individuals have 1 copy (because they are heterozygous), there are 291 copies of A1 in
this population (123 + 123 + 45 = 291). Similarly, there are 59 copies of the A2 allele in this population.
Since each individual possesses two alleles, there are 350 alleles in this population (175 individuals x 2
copies of each gene = 350 alleles in total).
We can then calculate the frequency of the alleles in this population:
The frequency of A1 = 291 copies of A1 350 total alleles = 0.831. We call this frequency p.
The frequency of A2 = 59 copies of A2 350 total alleles = 0.169. We call this frequency q.
If we do the math correctly, all alleles should be accounted for and p + q = 1.
Frequency of sperm
with A1 = p
Frequency of sperm
with A2 = q
Frequency of
eggs with A1 = p
Frequency of
eggs with A2 = q
We can then determine the likelihood of producing an offspring with each genotype, by using a Punnett
Square and assuming random mating.
Hardy and Weinberg figured out that no matter what the initial genotype frequencies of a population, after 1
generation of random mating, (given some assumptions), the genotype frequencies will be in the following
ratio: p2 : 2pq : q2
Where,
p = frequency of allele 1 (A1)
q = frequency of allele 2 (A2)
We now know this as the Hardy-Weinberg Principle. It states what happens if nothing alters the genotype
frequency of a focal population (= genetic equilibrium). In another sense, given no outside influence, neither
the allele frequencies (p + q = 1), nor the genotypic frequencies (p2 + 2pq + q2 = 1) in a population will
change. They will remain in the above ratio. The population would thus be considered to be in HardyWeinberg Equilibrium (HWE).
In the example above we would expect to see the following number of individuals of each genotype, if this
population was in Hardy-Weinberg Equilibrium. This is how many individuals of each genotype there will
be if the population mates randomly.
Possible
Genotypes
A1 A1
A1 A2
A2 A2
TOTAL:
Observed number of
individuals
123
45
7
175
Expected genotype
frequencies
0.6906
0.2809
0.0286
1
Expected number of
individuals under HWE
assuming same population size
0.6906 x 175 = 120.85 individuals
49.32
4.998
175
A population in HWE is not evolving. If a population is not evolving, its allele frequencies will not change
between generations. Therefore p in generation 1 will equal p in generation 2, 3, etc. You can test this
statistically by considering the first generation as the expected and the second as the observed in a Fishers
exact test (something like a chi square analysis for small sample sizes).
But what can throw a population out of HWE? The things that alter the allele frequencies of a population are
the same things that make a population evolve. They are:
1.
2.
3.
4.
5.
Mutations
Gene Flow
Individuals Mate Nonrandomly
Natural Selection
Genetic Drift (often written as small population size)
If a population is in HWE, we can assume that none of these things is happening. They are often referred to
in the negative as the assumptions of Hardy-Weinberg. If these assumptions are not met, and one or more of
them is/are happening, then gene frequencies will change between generations and the population will
evolve. Its that simple.
The rest of the lab concerns the 5 causes of evolution.
But what do these things mean? Well since I know you are such a fan of definitions, here are some
definitions:
Causes of evolution
1. MUTATION- any change in the nucleotide sequence of DNA. Mutations change the sequence which can
change the protein which can change the phenotype. All differences in DNA between individuals, species,
whatever started as a mutation. Therefore, mutations are the ultimate source of variation. Mutations add
alleles to a population, but since mutations are rare, these alleles will be uncommon. Mutations are due to
mistakes in DNA replication or chromosome disjunction, but not all mutations are bad.
e.g., GACTTAGCTTAAGCATAGCAGGTAGAT is changed to
GACTTAGCTAAAGCATAGCAGGTAGAT
The picture to the left shows the results of a single nucleotide difference in these
lizards. At first, the lizards were all brownish, but a mutation in one lineage caused
one population to produce white individuals. The mutation that caused the white
phenotype is actually adaptive (see below) and is higher in frequency in lizards that
live on white sand.
2. GENE FLOW- the gain or loss of alleles in a population by the movement of individuals into or out of
that population. Gene flow can increase variation in a population, but only by bringing in alleles that
originally mutated elsewhere. Normally it reduces variation between populations, since it mixes their alleles.
movement of
individuals
GENERATION 1:
Population 1
Population 2
GENERATION 2:
Population 1
Population 2
3. NON-RANDOM MATING- (aka assortative mating). Individuals mate according to their genotypes.
Random in this case means that individuals mate with individuals of a given genotype in proportion to their
frequency in the population, yknow, randomly. As an example, say A1A1 is at a frequency of 0.9. If an
individual mates randomly, it has a 90% chance of mating with an
individual that is A1A1. If the population mates nonrandomly, a given
genotype in a population is not equally likely to mate with every other
genotype in proportion to their frequency. Therefore, an individual might
mate with an A1A1 individual more or less than 90%. Since no new
alleles are being brought in or lost, nonrandom mating does not affect
allele frequency, rather it alters the genotypic frequencies from those
expected under HWE.
Organisms might not mate randomly due to limited movement (e.g.,
flowers across a field), or different preferences (mating because of color,
dance moves, etc.) or ability (cant mate because of differences in size or
shape, like a greyhound and a chihuahua.)
There are two ways to mate nonrandomly:
Negative Assortative mating - different genotypes more likely
to mate. Increases heterozygosity (Aa) and throws off the H-W
ratio.
Positive Assortative mating - like mates with like (related to
inbreeding). Increases homozygosity (AA or aa) and throws off
the H-W ratio.
Although both men discovered this concept independently, Darwin named it natural selection and spent 20
years gathering evidence for his controversial idea. He wrote his tome on it
called, On the Origin of Species by Means of Natural Selection or the
Preservation of Favoured Races in the Struggle for Life. Think reading my
manuals is tedious, thats just the title of his book.
Since then, natural selection has been measured and tested numerous times in the
wild and in field and laboratory experiments. One of the most commonly used
examples is pesticide resistance. For instance, some rats had a mutation that
gave them resistance to warfarin, a pesticide. The frequency of this mutation
increased dramatically when the pesticide was used, but because rats with this
mutation also need a diet higher in vitamin-K, they are at a disadvantage in the
absence of warfarin. Therefore, when its use was stopped, the frequency of the
mutation dropped again.
Selection is the only thing that will cause adaptive change. All adaptations are
due to selection. However, selection does not depend on trying. An organism
cannot desire an adaptation and make it happen. An individual cant adapt.
Selection acts on variation among individuals in a population that was there
already. Some individuals do better, some do worse. Scientists have found plenty of variation among
organisms for selection to play with. There is variation at pretty much every level: base pairs, alleles, gene
copies, phenotypes. Do you remember where this variation comes from?
Natural selection can remove unfit alleles from a population (directional selection) or
maintain a diversity of alleles (stabilizing selection).
Natural selection is a directional process, but it does not have a goal. Traits are selected
because of current environmental conditions. Bigger, faster, stronger are not always
better. And if the environment changes (and most of it evolves too), then which traits
are most fit will change.
5. GENETIC DRIFT- the fluctuation of allele frequencies due to random sampling error or chance.
Not all individuals in a population will survive and reproduce and not necessarily because of any particular
trait they possess. For example, if an elephant crashes through the woods for fun and accidentally steps on
half a population of daisies, then half the population will not reproduce. Was this because the surviving half
was elephant-resistant? No. They just happened not to be stepped on.
In another sense, drift is random sampling error. For instance, if you were to explain the alphabet to
someone who did not know it by pulling 26 tiles from a Scrabble bag, would your lesson be complete?
Chances are you would have multiples of some letters, like E which has 12 representative tiles, while
missing others like K which is represented by only 1 tile. On the other hand, try it again and you may get a
K and miss all 4 Ls.
What does this mean in nature? It means that not all alleles are passed on to the next generation. Which
alleles are not passed does not always depend on the alleles themselves, as it does in selection. Alleles that
are randomly not passed on will decrease in frequency.
Here is the genetic version Imagine a population that is all homozygous for allele 1 (A1). One individual
has a mutation, creating a new version of this gene: allele 2 (A2). This new mutation is obviously rare since
there is only one copy of it. Well, assuming the mutant mates at all, there is still a high chance that this allele
will not be passed on. Heres how it works:
The individual with the new mutation will be heterozygous (A1A2).
Since all the other individuals of this population are homozygous for the other allele (it didnt
mutate in anyone else), this individual will be mating with an individual that is A1A1.
This mating will produce offspring in the following proportions:
Male
A1
Female
A2
A1
A1A1
A1A2
A1
A1A1
A1A2
Each offspring has a 50% chance of not inheriting A2. There is a 50% chance that the allele is
lost right there.
The fewer offspring they have, the more likely A2 will be lost. In fact, alleles that are rare in a population are
more likely to get passed over than common ones, just like that K Scrabble tile. Thats just the luck of the
draw. Actually, the likelihood that an allele will rise to 100% (become fixed) or drop to 0% (be lost) due to
drift is equal to its proportion in the population in any given generation.
Drift removes alleles from a population.
Drift is a mathematical certainty in finite populations (which all populations are) therefore, some scientists
hold that if a population is out of HWE, drift should be assumed to be the reason, unless there is evidence
otherwise.
Once an allele is lost, it is lost forever unless it is reinstated via mutation or gene flow. However, a new
mutation will only be in a really small number of individuals and so is more likely to be lost. This is why
endangered species are so sad. Their small populations mean that much of the variation they once had is
gone and whats left is represented only by a small number of individuals. If any of those individuals die
before reproducing, then even more traits will be lost.
Here is an analogy: think of a drunk walking between platforms at a train station. He wobbles widely as he
walks, but he is determined to get from one end of the station to the other. Which is he more likely to fall off
of (1) a platform that is 10 feet wide or (2) a platform that is 40 feet wide? Does it depend on whether he
starts on the edge or in the middle?
If a population is infinite in size (or at least really large), then traits are not likely to become lost simply due
to chance (i.e., drift). You can see the effect of initial allele frequency (p), population size (n), and number
of generations on the likelihood that a gene will go to fixation (p = 1) or be lost (p = 0) here:
http://darwin.eeb.uconn.edu/simulations/jdk1.0/drift.html .
Similarly, is an allele that has an initial frequency of 0.1 (= 10% of individuals carry this allele) more or less
likely to be lost than an allele with a frequency of 0.9 (= 90% of individuals carry this allele)? What happens
after an allele is fixed or lost? Play with the website above. Notice what happens with the same parameters
in multiple runs. Are they always the same? Why?
Contrastingly, natural selection works best on large populations. Larger populations are more likely to carry
greater genetic variation (i.e., more allele types). The more variation, the choosier selection can be, and
the more adaptable the population; therefore larger populations can become better fit than smaller
populations, which cannot react to selection as easily and are more likely to lose variation due to drift. ****
Ok, thats what can cause a population to evolve. In order to test it though, we measure the allele
frequencies at generation 1 and compare it to generation 1 + n, using Fishers exact test or chi square to
determine if the frequencies have changed significantly over time. This again, is microevolution.
It looks something like this:
during winter, when the landscape is covered in snow, the grey morph is more fit, since it provides
camouflage against the white background. However, in the last few decades, the Finnish winters have been
much milder, and there has been less snow. Therefore, the brown morph has become the more fit morph,
and, as a result, the frequency of brown morphs increased rapidly in their study population during the last 28
years and nationwide during the last 48 years. You can see the frequency of the brown morph rise over time
due to natural selection in the graph above. When the frequency of alleles changes in a population over
generations, the population gets out of HWE, and evolution happens.
ACTIVITY!!
READ THE COMPLETE INSTRUCTIONS FOR EACH EXPERIMENT
BEFORE BEGINNING EACH EXPERIMENT!!!
Pretend you are population geneticist interested in the evolution of your favorite
population of Beadius ponius (the pony bead). You have been studying populations of this species for some
time. This species is haploid, meaning that they only have one copy of their chromosomes and can only
possess one allele at a time. Therefore whatever allele they have, that is their genotype (there are no
heterozygotes) and their phenotype (there are no other alleles to cover it up). They are asexual and
reproduce by splitting into two (binary fission). Whatever allele an individual has, it will give that same
allele to its entire offspring, unless mutations occur. You collect individuals each generation and separate
them by phenotype and thus determine allele frequencies. You have noticed that some outside force is
causing the populations genetic frequency to change. But is this enough to cause them to evolve
significantly?
Work in pairs. Each pair needs beads of 2 colors, an environment box, and a brown paper bag.
ITEM
One bead
Group of beads
Color of bead
Plastic box
Brown paper bag
p
q
n
In the following simulations, we will investigate each of the assumptions of Hardy-Weinberg (except
nonrandom mating) and how they affect the frequencies of alleles in a population of Beadius ponius. Unless
something is happening otherwise (like drift or selection), you can assume all individuals survive and
reproduce equally.
Use the tables after each demonstrations instructions to record your data. Use the charts in the homework
section to plot the results. Please do not turn in your data, just the homework section with graphs. Make sure
you plot the frequency ( f ) of p, not the absolute numbers. In nature, the relative abundance of a trait is
often more important than the absolute number because population sizes can vary. Frequencies are just like
percents, except instead of being on a scale of 0-100, they are on a scale of 0-1. For instance, an allele
possessed by 98% of individuals would be at a frequency of 0.98. USE LINES!! Make sure they are
distinguishable.
Each of your graphs should look similar to the
following.
p
q
Remember, p + q = 1. So in generation 1, when p
equals 0.7, q has to equal 0.3.
10
SCENARIO 1: MUTATION
In this scenario, you will follow the effects of mutation on genetic variation. To start, create a monomorphic
population, i.e. one with no variation.
1. Create a population with the following genetic make-up:
n = 20
p = 1.0
q = 0.0
This is Generation 1.
2. Record the number of individuals with each phenotype (#) and frequency (f) below.
3. In Generation 2, the individuals reproduce and replace themselves, so n does not change.
However, one individual produced a mutant offspring, so haphazardly replace one of the offspring
with a bead of a second color. This represents a mutation that created a new allele (q) in an
individual between the first and second generations.
4. Record the allele frequencies of this generation in the table.
5. In Generation 3, all individuals reproduce themselves again without changing the population size.
No mutations occur this generation. Record the allele frequencies of this generation.
6. In Generation 4, all individuals reproduce themselves again without changing the population size.
No mutations occur this generation. Record allele frequencies of this generation.
7. Record the number of individuals of each phenotype and the allele frequencies for each generation in
the table.
Generations
1
Phenotype:
A:
#
p
B:
q
Total:
2
f
3
f
4
f
8. Plot the frequency changes over the generations in the postlab section below.
11
Population 1
n = 20
p = 0.9
q = 0.1
This is Generation 1.
Generations
1
Phenotype:
A:
B:
2
f
Total:
Population 2
Generations
1
Phenotype:
A:
B:
Total:
2
f
3
f
4
f
12
NONRANDOM MATING
Nonrandom mating changes genotypic frequencies rather than allelic frequencies. This means that it alters
the proportion of homozygotes and heterozygotes in a population, rather than the frequency of p and q.
Since our beads are haploid and asexual, we cant measure this mechanism of evolution in this population.
4. Record however how many of each phenotype are left in the environment.
5. The individuals left in the environment then reproduce to create Generation 2. Therefore, for each
bead left in the environment, one of you will put in 1 additional bead of the same phenotype. In
other words, double the number and type of beads left in the box.
6. Record the number of each phenotype in this new generation.
7. Repeat steps 3-6 to create Generations 3-8.
13
8. Record the number of individuals of each phenotype and the allele frequencies for each generation.
9. Plot the frequency changes over the generations in the postlab section below.
SCENARIO 3: NATURAL SELECTION
Generation 1 Phenotypes
.
A
p
B
B
Generation 3 Phenotypes
A
B
Generation 4 Phenotypes
A
B
Generation 5 Phenotypes
A
B
Generation 6 Phenotypes
A
B
Generation 7 Phenotypes
A
B
Generation 8 Phenotypes
A
B
# removed
# left
# added
40
#
1
f
20
# removed
20
# left
20
# added
# removed
# left
# added
# removed
# left
# added
# removed
# left
# added
# removed
# left
# added
# removed
# left
# added
# removed
# left
# added
q
Total:
Generation 2 Phenotypes
A
p
q
p
q
p
q
p
q
p
q
p
q
p
q
14
15
B
Generation 3 Phenotypes
A
B
Generation 4 Phenotypes
A
B
Generation 5 Phenotypes
A
B
Generation 6 Phenotypes
A
B
Generation 7 Phenotypes
A
B
Generation 8 Phenotypes
A
B
# sampled
# added
60
#
1
f
30
# removed
30
# added
q
Total:
Generation 2 Phenotypes
A
#
p
p
q
#
# removed
# added
# removed
# added
# removed
# added
# removed
# added
# removed
# added
# removed
# added
Population 1
n = 60
p = 0.5
q = 0.5
p
q
p
q
p
q
p
q
p
q
p
q
16
B
Generation 3 Phenotypes
A
B
Generation 4 Phenotypes
A
B
Generation 5 Phenotypes
A
B
Generation 6 Phenotypes
A
B
Generation 7 Phenotypes
A
B
Generation 8 Phenotypes
A
B
# sampled
# added
6
#
1
f
3
# removed
3
# added
# removed
# added
# removed
# added
# removed
# added
# removed
# added
# removed
# added
# removed
# added
q
Total:
Generation 2 Phenotypes
A
#
p
p
q
p
q
Population 2
n=6
p = 0.5
q = 0.5
p
q
p
q
p
q
p
q
p
q
17
B
Generation 3 Phenotypes
A
B
Generation 4 Phenotypes
A
B
Generation 5 Phenotypes
A
B
Generation 6 Phenotypes
A
B
Generation 7 Phenotypes
A
B
Generation 8 Phenotypes
A
B
# sampled
# added
10
#
1
f
5
# removed
5
# added
# removed
# added
# removed
# added
# removed
# added
# removed
# added
# removed
# added
# removed
# added
q
Total:
Generation 2 Phenotypes
A
#
p
p
q
p
q
Population 3
n = 10
p = 0.9
q = 0.1
p
q
p
q
p
q
p
q
p
q
18
B
Generation 3 Phenotypes
A
B
Generation 4 Phenotypes
A
B
Generation 5 Phenotypes
A
B
Generation 6 Phenotypes
A
B
Generation 7 Phenotypes
A
B
Generation 8 Phenotypes
A
B
# sampled
# added
10
#
1
f
5
# removed
5
# added
# removed
# added
q
Total:
Generation 2 Phenotypes
A
#
p
p
q
p
q
#
# removed
# added
# removed
# added
# removed
# added
# removed
# added
# removed
# added
Population 4
n = 10
p = 0.1
q = 0.9
p
q
p
q
p
q
p
q
p
q
19
Name ______________________________
1. Use the following terms correctly in no more than two sentences: population(s), species, allele(s),
individual(s), phenotype(s). Your sentence(s) must be unique, make sense together, and be
biologically factual.
SCENARIO 1: MUTATION
2. Plot the frequency of p in this population.
Key
allele
p
q
phenotype
3. Using this data, what does mutation do to the allelic variation in a population?
20
Key
allele
p
q
phenotype
6. Before there was gene flow, each population had a very common allele, what does gene flow do to
the variation within each population?
7. Before there was gene flow, these populations had very different genetic make-ups. What does gene
flow do to the variation between the two populations?
8. Name one adaptation (a physical trait, not a mechanism) in animals and one in plants that help genes
flow between populations (i.e., adaptation for dispersal).
21
Key
allele
p
phenotype
q
background
color
11. What role did the environment (the background color and the predator) have to do with fitness?
12. Was there significant evolution due to selection in this population? Use a Chi Square test to answer
this question. Compare the initial number of individuals with each allele (expected) in generation 1
to the number of individuals with each allele at generation 9 (observed). If there was no change in
allele frequency (no evolution), then the initial allele frequency will equal the final allele frequency.
Use your statistics to conclude. Show your work.
22
Population 1
n = 60
p = 0.5
q = 0.5
Population 2
n = 06
p = 0.5
q = 0.5
Population 3
n = 10
p = 0.9
q = 0.1
13. Population 1
15. Population 3
14. Population 2
16. Population 4
Key
allele
p
q
phenotype
Population 4
n = 10
p = 0.1
q = 0.9
17. Using the graphs for populations 1 and 2, which causes a bigger fluctuation in allele frequency due
to drift, a large population or a small population?
18. What effect does initial allele frequency have on the frequency changes due to genetic drift? This
should be apparent from your results for populations 3 and 4.
23
19. Phonetically, genetic drift and gene flow sound the same. How are they different?
20. Functionally, genetic drift and selection appear to affect populations similarly. Put the letter below
in the box to indicate which mechanism, selection or drift, each item impacts more. If it is the same,
then put the letter in both columns.
A. Phenotype
Natural Selection
Genetic Drift
B. Population size
C. An alleles contribution to fitness
D. The environment
E. An alleles initial frequency
22. Which mechanisms of evolution are likely to remove alleles from a population?
24. Does an allele have to be lost for evolution to occur? Why or why not?
25. During these scenarios, did any individual bead change color? At
what level do evolutionary changes happen?
24