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DNA sequence provides the code for the amino acid sequence. The amino acid sequence determines the structure of the protein, which affects the function of the protein

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9.14 After the gene for an autosomal dominant humandisease was identified, sequence analysis of the mutant allele revealed it to be a missense mutation. Two alternate hypotheses are proposed for how the mutant allele could cause disease. In one hypothesis, the missense mutation alters a critical amino acid in the protein so that the protein is no longer able to function: heterozygotes with just one copy of the normal allele develop the disease because they have half of the normal dose of this protein's function. In the second hypothesis, the missense mutation alters the protein so that it interferes with a normal process: heterozygotes develop the disease because the mutant allele actively disrupts a required function. How could you gather evidence to support one of these alternate hypotheses using knockout mice?

*9.11 If you assume that each step of the PCR process is100% efficient, how many copies of a template would beamplified after 30 cycles of a PCR reaction if the numberof starting template molecules werea. 10?b. 1,000?c. 10,000?

*9.18 Comparative genomics offers insights into the relationship between homologous genes and the organization of genomes. When the genome of C. elegans was sequenced, it was striking that some types of sequences were distributed nonrandomly. Consider the data obtained for chromosome V and the X chromosome shownbelow. The following figure shows the distribution of genes, the distribution of inverted and tandem repeat sequences, and conserved genes (the location of transcribed sequences in C. elegans that are highly similar toyeast genes).a. How do the distributions of genes, inverted and tandemrepeat sequences, and conserved genes compare?b. Based on your analysis in (a), what might you hypothesizeabout the different rates of DNA evolution (change) on the arms and central regions of autosomesin C. elegans?c. Curiously, meiotic recombination (crossing-over, discussed in Chapter 12, p. 333) is higher on the arms of autosomes, with demarcations between regions of high and low crossing-over at the boundaries between conserved and nonconserved genes seen in the physical map. Does this information support your hypothesis in (b)?

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