17. Mutation, Repair, and Recombination

Types of Mutations

Open Question
Most organisms display a circadian rhythm, a cycling of biological processes that is roughly synchronized with day length (e.g., jet lag occurs in humans when rapid movement between time zones causes established circadian rhythms to be out of synch with daylight hours). In Drosophila, pupae eclose (emerge as adults after metamorphosis) at dawn.

Using this knowledge, how would you screen for Drosophila mutants that have an impaired circadian rhythm?
Open Question
Assume that a mutation affects the gene for each of the following eukaryotic RNA polymerases. Match each mutation with the possible effects from the list provided. More than one effect is possible for each mutation.

RNA Polymerase Mutation Effect(s)
RNA pol I _______________
RNA pol II _______________
RNA pol III _______________
snRNA _______________

Ribosomal RNA is not processed.
Open Question
Assume that a mutation affects the gene for each of the following eukaryotic RNA polymerases. Match each mutation with the possible effects from the list provided. More than one effect is possible for each mutation.

RNA Polymerase Mutation Effect(s)
RNA pol I _______________
RNA pol II _______________
RNA pol III _______________
snRNA _______________

Some tRNA is not synthesized.
Open Question
Assume that a mutation affects the gene for each of the following eukaryotic RNA polymerases. Match each mutation with the possible effects from the list provided. More than one effect is possible for each mutation.

RNA Polymerase Mutation Effect(s)
RNA pol I _______________
RNA pol II _______________
RNA pol III _______________
snRNA _______________

Some rRNA is not synthesized.
Open Question
Assume that a mutation affects the gene for each of the following eukaryotic RNA polymerases. Match each mutation with the possible effects from the list provided. More than one effect is possible for each mutation.

RNA Polymerase Mutation Effect(s)
RNA pol I _______________
RNA pol II _______________
RNA pol III _______________
snRNA _______________

Pre-mRNA does not have introns removed.
Open Question
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-receivermr-2 Missense mutation in codon 52 Delayed-receivermr-3 Deletion of nucleotides 83–150 Delayed-receivermr-4 Missense mutation in codon 192 Insensitivemr-5 Deletion of nucleotides 83–93 InsensitiveFor 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!)
Open Question
Assume that a mutation affects the gene for each of the following eukaryotic RNA polymerases. Match each mutation with the possible effects from the list provided. More than one effect is possible for each mutation.

RNA Polymerase Mutation Effect(s)
RNA pol I _______________
RNA pol II _______________
RNA pol III _______________
snRNA _______________

Some pre-mRNA is not synthesized.
Open Question
Most organisms display a circadian rhythm, a cycling of biological processes that is roughly synchronized with day length (e.g., jet lag occurs in humans when rapid movement between time zones causes established circadian rhythms to be out of synch with daylight hours). In Drosophila, pupae eclose (emerge as adults after metamorphosis) at dawn.In each case, how would you clone the genes you identified by mutation?
Open 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.
Open 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
Open Question
Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases in humans. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, explain its likely influence on the IL2RG gene product (assume its length to be 375 amino acids).

Large deletion covering Exons 2 and 3
Open Question
Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases in humans. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, explain its likely influence on the IL2RG gene product (assume its length to be 375 amino acids).

Deletion in Exon 2, in frame
Open Question
Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases in humans. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, explain its likely influence on the IL2RG gene product (assume its length to be 375 amino acids).

Deletion in Exon 2, causing frameshift
Open Question
Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases in humans. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, explain its likely influence on the IL2RG gene product (assume its length to be 375 amino acids).

Missense mutation
Open Question
Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases in humans. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, explain its likely influence on the IL2RG gene product (assume its length to be 375 amino acids).

Insertion in Exon 7, causing frameshift