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Biology 3594A Study Guide - Mutation, Phenotype

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School
Western University
Department
Biology
Course
Biology 3594A
Professor
Kathleen Hill

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Document Summary

An hqx mouse, with only one copy of the bad gene, ends up losing half of it"s hair. Has retinal degeneration, then cerebellar degeneration, then rod and cone loss and function. At the age of a teenager it looks like a really old mouse: genotype. What is the hq mutation: harlequin mice carry an x-linked recessive mutation in the pdcd8 (programmed cell death 8) gene, which encodes a protein known as apoptosis-inducing factor (aif). In normal conditions, this is located in the inner and outer mitochondrial membranes but induces apoptosis when fragmented to the nucleus: aif deficiency leads to increased oxidative stess by ros and decreased atp production. Compare and contrast: plap and cii (mutant detection assays) It is thought that in the hq mouse, there is a reduction of 80% in the aif protein. This protein can scavenge ros (ex. hydrogen peroxide and superoxide anions). Ros increases mutations such as dna lesions, dna breakage, g to t mutations.

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Related Questions

9.3a. Define mutation and explain the two types of mutations in multicellular organisms and their phenotypic effects.

9.3b. Define a point mutation and how it may or may not result in a new phenotype.

9.3c. Describe chromosomal mutations, including deletions, duplications, inversions, and translocations.

9.3d. Define and distinguish spontaneous and induced mutations.

9.3e. Define Ć¢Ā€ĀœhotspotĆ¢Ā€Ā mutation and provide two examples.

Indicate which of the following mutations would likely promote apoptosis in cells harboring the mutation.

a. Mutations in the pro-apoptotic effector Bcl2 family proteins Bax and Bak that prevent their association with the outer mitochondrial membrane.

b. A mutation in the BIR domain of the IAP protein DIAP1 that prevents binding to either caspases or anti-IAP proteins.

c. A mutation in the anti-IAP protein Reaper that prevents its binding to the IAP proteins.

d. A mutation in the CARD domain of caspase-9 that prevents its binding to Apaf1.

Consider two actual DNA mutations found as 2 PAH mutant alleles.

Mutation # 0017 changes codon 414 from a tyrosine to a cysteine (TYR414CYS). A homozygous genotype leads to HPA. Indicate the type of mutation for 0017at the DNA level. Identify the class of mutation at the protein level. Based on the disease phenotype, would you expect the mutated protein to be partially functional or non-functional? Explain your reasoning briefly

Mutation #0018 is a mutation that changes the splice site of intron 4 (IVS4). Explain the consequence of mutation 0018 at the level of transcription of the gene, splicing and protein synthesis. Homozygous 0018 leads to PKU phenotype