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Ch. 17+18 - Transcriptional Regulation in Eukaryotes
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All textbooksKlug 12th EditionCh. 17+18 - Transcriptional Regulation in EukaryotesProblem 26

Chapter 17, Problem 26

Mutations in the low-density lipoprotein receptor (LDLR) gene are a primary cause of familial hypercholesterolemia. One such mutation is a SNP in exon 12 of the LDLR. In premenopausal women, but not in men or postmenopausal women, this SNP leads to skipping of exon 12 and production of a truncated nonfunctional protein. It is hypothesized that this SNP compromises a splice enhancer [Zhu et al. (2007). Hum Mol Genet. 16:1765–1772]. What are some possible ways in which this SNP can lead to this defect, but only in premenopausal women?

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Hi everyone. Let's look at our next question. Which of the following is a DNA sequence variation called SNP pronounced the sniP that occurs when a single nucleotide. Adenine thiamine guanine in the genome sequence is altered. So we're talking about a variation caused by just a change in one nucleotide in the genome sequence. And the phrase we're looking for here is choice the single nucleotide polymorphism. Um We have that clue of single nucleotide polymorphism. Um We think of poly many so many changes and this is a cause of variation. In fact it's the most common cause of variation among individuals. Those single base pair changes can have a wide range of effects from no effect at all if it doesn't change the amino acid that the code encodes for. To something like sickle cell anemia. A major disorder caused by a single base pair mutation. So let's look at our other answer choices to understand why they're not correct Choice A says small nicking points. Um While a nick would be a break in D. N. A. Where there's no phosphate ester bond between bases adjacent bases and this would be caused by damage or by enzyme action. Has been deliberately a D. N. A strand is nicht um and would have to be sealed by like this but it's not a base pair mutation. So that's not a correct answer. And then choice be single nuclear protein choice. C small nucleotide protein. Well a SNP a snip is not a protein. It's a variation a change in the DNA. So that's why B. And C. Are not correct. So again, which of the following is a DNA sequence variation called SniP, um that occurs when a single nucleotide and the genome sequence is altered twice the single nucleotide polymorphism. See you in the next video.
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Textbook Question

Regulation of the lac operon in E. coli (see Chapter 16) and regulation of the GAL system in yeast are analogous in that they both serve to adapt cells to growth on different carbon sources. However, the transcriptional changes are accomplished very differently. Consider the conceptual similarities and differences as you address the following.

Compare and contrast the cis-regulatory elements of the lac operon and GAL gene system.

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Textbook Question

Regulation of the lac operon in E. coli (see Chapter 16) and regulation of the GAL system in yeast are analogous in that they both serve to adapt cells to growth on different carbon sources. However, the transcriptional changes are accomplished very differently. Consider the conceptual similarities and differences as you address the following.

Compare and contrast how these two systems are negatively regulated such that they are downregulated in the presence of glucose.

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Textbook Question

Incorrectly spliced RNAs often lead to human pathologies. Scientists have examined cancer cells for splice-specific changes and found that many of the changes disrupt tumor-suppressor gene function [Xu and Lee (2003). Nucl. Acids Res. 31:5635–5643]. In general, what would be the effects of splicing changes on these RNAs and the function of tumor-suppressor gene function? How might loss of splicing specificity be associated with cancer?

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Textbook Question

During an examination of the genomic sequences surrounding the human β-globin gene, you discover a region of DNA that bears sequence resemblance to the glucocorticoid response element (GRE) of the human metallothionein IIA (hMTIIA) gene. Describe experiments that you would design to test (1) whether this sequence was necessary for accurate β-globin gene expression and (2) whether this sequence acted in the same way as the hMTIIA gene's GRE.

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Textbook Question

RNA helicases are a class of proteins that bind mRNAs and influence their secondary structures and interactions with other proteins. RNA helicases have been implicated in many steps of RNA regulation such as splicing, decay, and translation. Why might these enzymes be so ubiquitously required for RNA regulation?

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Textbook Question

Marine stickleback fish have pelvic fins with long spines that provide protection from larger predatory fish. Some stickleback fish were trapped in lakes and have adapted to life in a different environment. Many lake populations of stickleback fish lack pelvic fins. Shapiro et al. (2004) (Nature 428:717.723) mapped the mutation associated with the loss of pelvic fins to the Pitx1 locus, a gene expressed in pelvic fins, the pituitary gland, and the jaw. However, the coding sequence of the Pitx1 gene is identical in marine and lake stickleback [Chan et al. (2010). Science 327:5963,302–305]. Moreover, when the Pitx1 coding region is deleted, the fish die with defects in the pituitary gland and the jaw, and they lack pelvic fins. Explain how a mutation near, but outside of, the coding region of Pitx1 may cause a loss of pelvic fins without pleiotropic effects on the pituitary gland and jaw.

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