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Answer: Both types of mutations are expected to arise at the same rate.
However, synonymous substitutions do not change the amino acid sequence
of a protein and generally have no phenotypic effect. They are therefore not
subject to natural selection and are expected to accumulate freely. On the
other hand, nonsynonymous substitutions do change the amino acid sequence
and potentially have a wide range of affects on phenotype. These effects are
subject to natural selection. Most nonsynonymous substitutions will be at
least slightly harmful and selected against, reducing their frequency, while a
few will be nearly neutral or advantageous; so nonsynonymous mutations will
tend to accumulate much more slowly and be fixed at a lower rate than
synonymous ones. This general tendency would not change from gene to
gene, so the effect would be expected to occur for most genes.
2. In Figure 20-7, the overall survival rates of three genotypes are plotted.
Explain the reasons for the differences between the three survival curves.
3. From Table 20-4, would you expect the noncoding mutation g4205a to be
fixed before or after the coding mutation G238S in a population of bacteria
evolving resistance to the antibiotic cefotaxime? Give at least two reasons for
your answer.
Answer: The noncoding mutation g4205a would be fixed after the coding
mutation G238S. First, the noncoding mutation had a positive effect on only
8 alleles, whereas the coding mutation had a positive effect on all 16. Also,
the coding mutation had a positive effect independently of the state of other
genes. This gives it a strong advantage. Second, the noncoding mutation had a
negative effect on 2 other alleles, increasing its disadvantage relative to the
coding gene. The strength of the advantage of the coding gene is seen in the
mean proportional increase column—the increase in the coding mutation is
almost 3 orders of magnitude greater than the noncoding gene.
4. Examining Table 20-5, what do you think would be the order of mutations
fixed during selection in a third evolving virus line? Would the mutations
become fixed in the same order as the TX or ID virus?
Answer: The differences in the order of mutations fixed between the two
different lines indicates that the order is not predictable—even though several
of the fixed mutations were the same in the two lines, the mutations were not
fixed in the same order. It is likely that the mutations in a third virus line
would be fixed in a different order but involve at least some of the same
mutations, for example those that were the same between TX and ID. It also
seems likely that the mutations in a third line would involve the A and F
proteins, since the fixed mutations commonly occur in those two.
5. Using Figure 20-17, explain how the mutation in the GATA sequence of the
Duffy gene imparts resistance to P. vivax infection.
the red blood cells, but not on other cells. The lack of Duffy protein means
that P. vivax are no longer able to recognize and infect the red blood cells, and
resistance to malaria is conferred.
6. In Figure 20-18, what is the evidence that polyploid formation has been
important in plant evolution?
BASIC PROBLEMS
7. Compare Darwin’s description of natural selection as quoted on page 730 with
Wallace’s description of the tendency of varieties to depart from the original
type quoted on page 731. What ideas do they have in common?
Answer: The ideas of Darwin and Wallace were remarkably similar. Both
authors recognized a struggle for existence and that survival and reproduction
were not assured. Both also recognized the existence of variations that could
confer a reproductive advantage. Finally, both realized that if beneficial
variations were passed to the offspring they would increase in frequency over
time.
8. What are the three principles of the theory of evolution by natural selection?
Answer: The three principles are: (1) organisms within a species vary from
one another, (2) the variation is heritable, and (3) different types leave
different numbers of offspring in future generations.
was not only possible but common, and that most amino acid differences
between species had not arisen through natural selection of adaptive variation
but through genetic drift of neutral alleles.
10. What would you predict to be the relative rate of synonymous and
nonsynonymous substitutions in a globin pseudogene?
CHALLENGING PROBLEMS
Unpacking the Problem
12. If the mutation rate to a new allele is 10–5, how large must isolated
populations be to prevent chance differentiation among them in the frequency
of this allele?
µ ≥ 1/N
so
N ≥ 1/µ
N ≥ 105
Chapter Twenty 469
Answer:
a. One hypothesis is that G6PD mutations affect the metabolism of glucose in
red blood cells in such a way that they reduce infection by malarial parasites,
which are common in Tanzania and a significant source of childhood
mortality. It is possible, for example, that malaria parasites cannot reproduce
in a red blood cell deficient for glucose metabolism. It is also possible that
G6PD deficiency modifies the cell in some way that prevents infection.
b. This hypothesis could be tested by comparing G6PD mutants with wild types
and measuring the rate of infection by parasites. If the mutations confer
resistance, infection rates should be lower.
14. Large differences in HbS frequencies among Kenyan and Ugandan tribes had
been noted in surveys conducted by researchers other than Tony Allison.
These researchers offered alternative explanations different from the malarial
470 Chapter Twenty
Answer:
a. That mutation rates are higher in some tribes than others is very
unlikely, but this could be tested by comparing the synonymous
substitutions in the hemoglobin gene among the different tribes. This has
the advantage of targeting the hemoglobin molecule specifically, but the
number of substitutions in hemoglobin might be too low to be
informative. A better alternative would be to measure mutation rates in
noncoding DNA sequences such as intergenic spacers or introns. The
most useful sequences would be those near or within the hemoglobin
gene.
15. How many potential evolutionary paths are there for an allele to evolve six
different mutations? Seven different mutations? Ten different mutations?
16. The MC1R gene affects skin and hair color in humans. There are at least 13
polymorphisms of the gene in European and Asian populations, 10 of which
are nonsynonymous. In Africans, there are at least 5 polymorphisms of the
gene, none of which are nonsynonymous. What might be one explanation for
the differences in MC1R variation between Africans and non-Africans?
Answer: When amino acid changes have been driven by positive adaptive
selection, there should be an excess of nonsynonymous changes. The MC1R
gene (melanocortin 1 receptor) encodes a key protein controlling the amount
Chapter Twenty 471
of melanin in skin and hair. Asian and European populations appear to have
experienced positive adaptive selection for more lightly pigmented skin
relative to their African counterparts. By contrast, since high levels of melanin
protect from damaging UV rays, purifying selection is likely to have
maintained the sequence of MC1R in Africans.
17. Opsin proteins detect light in photoreceptor cells of the eye and are required
for color vision. The nocturnal owl monkey, the nocturnal bush baby, and the
subterranean blind mole rat have different mutations in an opsin gene that
render it nonfunctional. Explain why all three species can tolerate mutations
in this gene that operates in most other mammals.
Answer: Both the owl monkey and bush baby are nocturnal while the
subterranean mole rat is blind. Genes necessary for color vision are therefore
not necessary for these three species. When species shift their habitats or life
styles, mutations that cause inactivation of genes whose functions are no
longer necessary is expected.
18. Full or partial limblessness has evolved many times in vertebrates (snakes,
lizards, manatees, whales). Do you expect the mutations that occurred in the
evolution of limblessness to be in the coding or noncoding sequences of
toolkit genes? Why?
19. Several Drosophila species with unspotted wings are descended from a
spotted ancestor. Would you predict the loss of spot formation to entail coding
or noncoding changes in pigmentation genes? How would you test which is
the case?
spot while those from unspotted species should drive low-level expression of
the reporter gene across the whole wing blade.
20. It has been claimed here that “evolution repeats itself.” What is the evidence
for this claim from
Answer:
a. The analysis of HbS alleles shows that this allele has arisen independently
five times in areas where malaria is common. In this case, evolution has
repeated itself.
The overall pattern is that evolution can repeat itself in a general way, but
rarely follows exactly the same process. For example an evolutionary result is
unlikely to occur in the same way when multiple mutations are involved—
when the evolutionary pathway is complex. When the evolutionary pathway is
simpler, involving only one gene, it is more likely that mutations in that gene
will arise repeatedly and spread when they confer an advantage.
Chapter Twenty 473
21. What is the molecular evidence that natural selection includes the “rejection
of injurious change”?
23. What is the evidence that gene duplication has been the source of the and ß
gene families for human hemoglobin?
Answer: The and ß gene families show remarkable amino acid sequence
similarities (see table in the companion text). Within each gene family,
sequence similarities are greater and, in some cases, member genes have
identical intron-exon structure.
24. DNA-sequencing studies for a gene in two closely related species produce the
following numbers of sites that vary:
Synonymous polymorphisms 50
Nonsynonymous species differences 2
Synonymous species differences 18
Nonsynonymous polymorphisms 20
474 Chapter Twenty
Does this result support neutral evolution of the gene? Does it support an
adaptive replacement of amino acids? What explanation would you offer for
the observations?
a/b = c/d
However, in this example, a/b = 20/50 > c/d = 2/18, which fits neither
expectation.
25. In humans, two genes encoding the opsin visual pigments that are sensitive to
green and red wavelengths of light are found adjacent to one another on the X
chromosome. They encode proteins that are 96 percent identical. Nonprimate
mammals possess just one gene encoding an opsin sensitive to the red/green
wavelength.
a. Offer one explanation for the presence of the two opsin genes on the
human X chromosome.
b. How would you test your explanation further and pinpoint when in
evolutionary history the second gene arose?
Answer:
a. One way the two genes could arise is a duplication of the opsin gene
sometime after the divergence of primates from other mammals. Since both
of these genes are functional, this would be an example of
neofunctionalization. Another way would be transposition, through the
movement of a transposable element. A third way would involve
retrotransposition.
26. About 9 percent of Caucasian males are color-blind and cannot distinguish
red-colored from green-colored objects.
Answer:
a. Color blindness could result from a mutation in any of several steps
involved in the perception of color. One would be a mutation in a gene
controlling light absorbing pigments in photoreceptors, so that both “red”
cones and “green” cones respond to the same wavelength of light. Another
could be a mutation in the way the information is processed by the nervous
system, so that “red” and “green” are processed the same way and become
indistinguishable.