Chapter 15: Problem 20
What is the potential consequence of the insertion of a transposon with its own termination and polyadenylation signals into an intronic region?
Chapter 15: Problem 20
What is the potential consequence of the insertion of a transposon with its own termination and polyadenylation signals into an intronic region?
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Get started for freeIn this chapter, we focused on how gene mutations arise and how cells repair DNA damage. At the same time, we found opportunities to consider the methods and reasoning by which much of this information was acquired. From the explanations given in the chapter, (a) How do we know that mutations occur spontaneously? (b) How do we know that certain chemicals and wavelengths of radiation induce mutations in DNA? (c) How do we know that DNA repair mechanisms detect and correct the majority of spontaneous and induced mutations?
Mutations in the \(I L 2 R G\) gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The \(I L 2 R G\) 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 \(I L 2 R G\) gene product (assume its length to be 375 amino acids). (a) Nonsense mutation in coding regions (b) Insertion in Exon 1 , causing frameshift (c) Insertion in Exon \(7,\) causing frameshift (d) Missense mutation (e) Deletion in Exon 2 , causing frameshift (f) Deletion in Exon 2 , in frame (g) Large deletion covering Exons 2 and 3
How would you expect the misincorporation of bases by a DNA polymerase to change if the relative ratios of the dNTPs were \(A=T=G\) but a five-fold excess of \(C ?\)
Why is a random mutation more likely to be deleterious than beneficial?
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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