Evolutionary Analysis

Chapter 4: Mutation and Genetic Variation

Study and Review

These essay/discussion questions provide a comprehensive review of the facts and concepts presented in each chapter, with special attention to connections among scientific facts, individual case studies, and broader principles.

1. Describe the basic structure of DNA, and briefly summarize the processes by which DNA is copied and by which DNA is used to make proteins. [Hint]

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2. Explain why the genetic code is called a triplet code. What is a codon? In what way is the code redundant? [Hint]

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3. What are point mutations and how do they occur? Distinguish between transitions and transversions and between replacement (nonsynonymous) and silent site (synonymous) substitutions. How is it possible that a mutation may result in no change in a protein? [Hint]

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4. What is a loss-of-function mutation, and how (in general) are they used to calculate mutation rates? Does using this type of mutation accurately estimate mutation rates? Why or why not? [Hint]

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5. How common is mutation? Do mutation rates vary? If so, how, and why? [Hint]

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6. On average, what is the fitness effect of mutations? Use evidence from experiments on Caenorhabditis, Drosophila, and Saccharomyces (including the data presented in figure 4.6) to justify your answer. [Hint]

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7. How does gene duplication occur? Why is this phenomenon important evolutionarily? What evidence do we have that gene duplication has occurred? Illustrate using the globin gene family. [Hint]

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8. How do chromosomal inversions occur, and what is their significance? Be sure to include a brief discussion of linkage. Use the "natural experiment" in Drosophila subobscura to illustrate your answer. [Hint]

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9. In what kind(s) of organisms is polyploidy common? How does it occur, and what is/are its evolutionary consequence(s)? [Hint]

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10. Outline the mechanisms used to determine genotype. Can you identify a reason or reasons why protein electrophoresis might underestimate genetic variability? Can you identify a reason or reasons why DNA electrophoresis might underestimate genetic variability? [Hint]

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11. Use the data in Table 4.2 to calculate the frequency of the delta-32 allele each population. How much variation, in general, seems to exist in natural populations? [Hint]

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12. Explain why the classic view assumed that genetic variation would be limited in natural populations. Briefly describe the two hypotheses for why natural populations are more variable than had been expected. [Hint]

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