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Ch. 15 - Gene Mutation, DNA Repair, and Transposition
Chapter 15, Problem 28

Among Betazoids in the world of Star Trek®, the ability to read minds is under the control of a gene called mindreader (abbreviated mr). Most Betazoids can read minds, but rare recessive mutations in the mr gene result in two alternative phenotypes: delayed-receivers and insensitives. Delayed-receivers have some mind-reading ability but perform the task much more slowly than normal Betazoids. Insensitives cannot read minds at all. Betazoid genes do not have introns, so the gene only contains coding DNA. It is 3332 nucleotides in length, and Betazoids use a four-letter genetic code. The following table shows some data from five unrelated mr mutations. Mutation Description of Mutation Phenotype _ mr-1 Nonsense mutation in codon 829 Delayed-receiver mr-2 Missense mutation in codon 52 Delayed-receiver mr-3 Deletion of nucleotides 83–150 Delayed-receiver mr-4 Missense mutation in codon 192 Insensitive mr-5 Deletion of nucleotides 83–93 Insensitive For each mutation, provide a plausible explanation for why it gives rise to its associated phenotype and not to the other phenotype. For example, hypothesize why the mr-1 nonsense mutation in codon 829 gives rise to the milder delayed-receiver phenotype rather than the more severe insensitive phenotype. Then repeat this type of analysis for the other mutations. (More than one explanation is possible, so be creative within plausible bounds!)

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Gene Mutations

Gene mutations are alterations in the DNA sequence of a gene, which can affect the function of the protein produced. These mutations can be classified into several types, including nonsense mutations, which introduce a premature stop codon, and missense mutations, which result in a different amino acid being incorporated into the protein. Understanding how these mutations impact protein function is crucial for explaining the resulting phenotypes in organisms.
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Phenotype Expression

Phenotype expression refers to the observable traits or characteristics of an organism, which result from the interaction of its genotype with the environment. In the context of the Betazoids, the phenotypes of delayed-receivers and insensitives arise from specific mutations in the mindreader gene. The severity of the phenotype often correlates with the type and location of the mutation within the gene, influencing the protein's functionality.
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Recessive vs. Dominant Traits

In genetics, traits can be classified as dominant or recessive based on their expression in the phenotype. Recessive traits require two copies of the mutated gene to manifest, while dominant traits can be expressed with just one copy. In the case of the Betazoids, the recessive mutations in the mr gene lead to the delayed-receiver and insensitive phenotypes, illustrating how the inheritance pattern affects the expression of mind-reading abilities.
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Related Practice
Textbook Question
Presented here are hypothetical findings from studies of heterokaryons formed from seven human xeroderma pigmentosum cell strains: XP1 XP2 XP3 XP4 XP5 XP6 XP7 XP1 - XP2 - - XP3 - - - XP4 + + + - XP5 + + + + - XP6 + + + + - - XP7 + + + + - - - Note: + = complementation; - = no complementation These data are measurements of the occurrence or nonoccurrence of unscheduled DNA synthesis in the fused heterokaryon. None of the strains alone shows any unscheduled DNA synthesis. Which strains fall into the same complementation groups? How many different groups are revealed based on these data? What can we conclude about the genetic basis of XP from these data?
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Textbook Question
Imagine yourself as one of the team of geneticists who launches a study of the genetic effects of high-energy radiation on the surviving Japanese population immediately following the atom bomb attacks at Hiroshima and Nagasaki in 1945. Demonstrate your insights into both chromosomal and gene mutation by outlining a short-term and long-term study that addresses these radiation effects. Be sure to include strategies for considering the effects on both somatic and germ-line tissues.
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Textbook Question
With the knowledge that radiation causes mutations, many assume that human-made forms of radiation are the major contributors to the mutational load in humans. What evidence suggests otherwise?
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Textbook Question

Shown here are the amino acid sequences of the wild-type and three mutant forms of a short protein.
___________________________________________________
Wild-type: Met-Trp-Tyr-Arg-Gly-Ser-Pro-Thr
Mutant 1: Met-Trp
Mutant 2: Met-Trp-His-Arg-Gly-Ser-Pro-Thr
Mutant 3: Met-Cys-Ile-Val-Val-Val-Gln-His                                  _

Use this information to answer the following questions:

Using the genetic coding dictionary, predict the type of mutation that led to each altered protein.

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Textbook Question

Shown below are two homologous lengths of the alpha and beta chains of human hemoglobin. Consult a genetic code dictionary (Figure 13.7), and determine how many amino acid substitutions may have occurred as a result of a single nucleotide substitution. For any that cannot occur as a result of a single change, determine the minimal mutational distance.

Alpha: ala val ala his val asp asp met pro
Beta: gly leu ala his leu asp asn leu lys

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Textbook Question
It has been noted that most transposons in humans and other organisms are located in noncoding regions of the genome—regions such as introns, pseudogenes, and stretches of particular types of repetitive DNA. There are several ways to interpret this observation. Describe two possible interpretations. Which interpretation do you favor? Why?
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