BIO 234—Fundamental Evolutionary Biology Scottsdale Community College and 2 + 2 partnership with Northern Arizona University Lecture 3.1 Review of Genetics Dr. John D. Nagy

Figure 1: mRNA and protein sequences of human Hbb, the gene for β-globin .

Summary and Instructions

Complete this lecture by performing the following exercises: 1. Review §6.1 and 6.2 (pages 187–198) of the textbook. 2. Study §6.3 and 6.4 (pages 199–210) of the textbook 3. Master the definitions of terms in the vocabulary list below. 4. Answer the focus questions written below; you may submit your answers either through Canvas or via email as a pdf or jpeg.

Nagy, 2021 1 Evol Lec 3.1 Genetics Reveiw Vocabulary

Mutation Phenotype Transition Synonymous mutation Germ-line mutation Genotype Transversion Non-synonymous mutation Frameshift mutation Missense mutation Nonsense mutation Deletion mutation Insertion mutation Inversion Translocation Crossing-over

Focus Questions

Answer the following questions in Canvas. Alternatively, you can answer them in your own media (for example, paper, OneNote, or Word) and submit them through Canvas via email. Please note: If you choose to submit via email, please submit a pdf or jpeg copy of your work. Use your own words and be thorough in all your free-response answers.

Concepts 1. Which type of mutation produces genetic variability important for evolution by natural selection in a population of organisms—somatic or germ-line? Explain your answer.

2. Compare and contrast transversion and transition mutations in as much detail as you can.

3. Complete question 14 on page 213 of the textbook.

4. Analyze the Luria-Delbr¨ukexperiment by answering the following questions:

(a) What question did this study address? (b) Describe the experimental procedure. (c) What were the predictions made by the 2 hypotheses tested? Explain how these hypotheses generate those predictions. (d) Describe the results of the experiment at the level of detail in the book. If you read and express the material from the original paper itself—available on my BIO 181 webstie—I will grant extra credit. (e) Which hypothesis did these results support? Explain why those results supported that hypothesis.

5. Consider the data from the heat-shock protein 90 study described in the book and pre- sented in Figure 6.24 on page 210 of the textbook. Use that information to answer the following questions:

(a) At both temperatures studied, which type of mutation tends to be more detrimental: synonymous or nonsynonymos? Explain your reasoning. (b) At which temperature do mutations in HSP90 tend to be more detrimental? Explain your reasoning.

Nagy, 2021 2 Evol Lec 3.1 Genetics Reveiw Synthesis 1. In an exon of a human gene, some people have this sequence: ATGCUU; while others have ATGCAU. This results in a change in one amino acid of a protein. Describe this mutation, using professional terminology introduced in section 6.3 of the textbook, in as much detail as you can.

2. In lecture 2.2 (Phylogeny), you were introduced to the CMAH-∆92 allele found in humans. Describe this mutation, using professional terminology introduced in section 6.3 of the textbook, in as much detail as you can.

3. In an intron of a human gene, some people have this sequence: GTGGTG, while oth- ers have GTGGCG. That is all you know. Describe this mutation, using professional terminology introduced in section 6.3 of the textbook, in as much detail as you can.

4. In an exon of a gene, all leopards have this sequence: CAUCGGAGUGGU. The same gene in tigers has this sequence: CACGGAGUGGU. Compared to leopards, the tigers’ protein has many different amino acids and is about 70 amino acids shorter. Describe this mutation, using professional terminology introduced in section 6.3 of the textbook, in as much detail as you can.

5. In an intergenic spacer in humans, some people have this sequence: AAGTC; while others have AAAGTC. This results in no change in the primary structure of a protein. Describe this mutation, using professional terminology introduced in section 6.3 of the textbook, in as much detail as you can.

6. Answer question 16 on page 213 of the textbook.

Image Credits

Figure1, page1: J. D. Nagy, BIO 181 Lecture 3.2, revision 2021.

Nagy, 2021 3 Evol Lec 3.1 Genetics Reveiw