Mutations in the low-density lipoprotein receptor (LDLR)...

Question

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?

Accepted Answer

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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