Chapter 15: Problem 8
What is meant by a conditional mutation?
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Key Concepts
These are the key concepts you need to understand to accurately answer the question.
Chapter 15: Problem 8
What is meant by a conditional mutation?
These are the key concepts you need to understand to accurately answer the question.
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Get started for freeDescribe a tautomeric shift and how it may lead to a mutation.
A significant number of mutations in the \(H B B\) gene that cause human \(\beta\) -thalassemia occur within introns or in upstream noncoding sequences. Explain why mutations in these regions often lead to severe disease, although they may not directly alter the coding regions of the gene.
Presented here are hypothetical findings from studies of heterokaryons formed from seven human xeroderma pigmentosum cell strains: $$\begin{array}{lccccccc} & X P 1 & X P 2 & X P 3 & X P 4 & X P 5 & X P 6 & X P 7 \\ X P 1 & \- & & & & & & \\ X P 2 & \- & \- & & & & & \\ X P 3 & \- & \- & \- & & & & \\ X P 4 & \+ & \+ & \+ & \- & & & \\ X P S & \+ & \+ & \+ & \+ & \- & & \\ X P 6 & \+ & \+ & \+ & \+ & \- & \- & \\ X P 7 & \+ & \+ & \+ & \+ & \- & \- & - \end{array}$$ These data are measurements of the occurrence or nonoccur- rence 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?
In maize, a \(D s\) or \(A c\) transposon can cause mutations in genes at or near the site of transposon insertion. It is possible for these elements to transpose away from their original site, causing a reversion of the mutant phenotype. In some cases, however, even more severe phenotypes appear, due to events at or near the mutant allele. What might be happening to the transposon or the nearby gene to create more severe mutations?
What genetic defects result in the disorder xeroderma pigmentosum (XP) in humans? How do these defects create the phenotypes associated with the disorder?
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