Molecular genetic studies are performed on a family with known familial hypercholesterolemia. In this particular family, the defect in the LDL receptor gene involves a messenger mutation near the 11th exon, in the region of homology with epidermal growth factor receptor precursor. A defect at this site would be most likely to produce which of the following effects? A. Decreased transcription of LDL receptor gene B. Poor internalization of LDL bound to LDL receptor C. Poor retention of the LDL receptor in the membrane D. Reduced binding of LDL E. Trapping of the LDL receptor in the endoplasmic reticulum
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- Erythritol is a natural sugar abundant in fruits and fermentingfoods. Pathogenic bacterial strains that catabolize erythritolcontain four closely spaced genes, all involved in erythritolmetabolism. One of the four genes (eryD) encodes a productthat represses the expression of the other three genes. Erythritolcatabolism is stimulated by erythritol. Present a regulatorymodel to account for the regulation of erythritol catabolism insuch bacterial strains. Does this system appear to be underinducibleor repressible control?The PYK gene codes for the expression of pyruvate kinase, which is one of the enzymestargeted for anti-cancer drug design. You have identified an RNAi that targets the mRNAof PYK gene. To study the effect of the RNAi towards pyruvate kinase, the respected RNAiis expressed in Saccharomyces cerevisiae. The level of pyruvate kinase can be detectedwith a fluorescent antibody.(a). Predict the result that you will obtain in recombinant S. cerevisiae that expresses therespected RNAi.(b). Compare the result in Q3a(i) with the wild-type S. cerevisiae.Suppose that in the formation of phenylalanine hydroxylase mRNA, the exons of the pre-mRNA fail to splice together properly and the resulting enzyme is nonfunctional. This produces an accumulation of high levels of phenylalanine and other compounds, which causes neurological damage. What phenotype would be produced in the affected individual?
- Phorbol esters have been observed to induce the transcription of AP-1–influenced genes. Explain how this processcould occur. What are the consequences of AP-1 transcription? What role does intermittent exposure to phorbol estershave on an individual’s health?The ABO blood group antigens are the terminal sugars covalently linked to the end of the glycolipid in the red blood cellmembrane. The H antigen is the precursor of the A and Bantigens. Individuals with type A blood produce a gene thatcodes for an enzyme that adds N-acetylgalactosamine in ana(1,3) linkage to the Gal* residue in the H antigen. Type Bblood requires that an enzyme add a d-a galactose in an a(1,3) linkage to the Gal*. Draw the structures of the A andB antigens.It is not an easy matter to assign particular func-tions to specific components of the basal lamina, sincethe overall structure is a complicated composite materialwith both mechanical and signaling properties. Nidogen,for example, cross-links two central components of thebasal lamina by binding to the laminin γ-1 chain and totype IV collagen. Given such a key role, it was surprisingthat mice with a homozygous knockout of the gene fornidogen-1 were entirely healthy, with no abnormal phe-notype. Similarly, mice homozygous for a knockout of thegene for nidogen-2 also appeared completely normal. Bycontrast, mice that were homozygous for a defined muta-tion in the gene for laminin γ-1, which eliminated just thebinding site for nidogen, died at birth with severe defectsin lung and kidney formation. The mutant portion of thelaminin γ-1 chain is thought to have no other functionthan to bind nidogen, and does not affect laminin struc-ture or its ability to assemble into the basal lamina.…
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- . An interesting mutation in lacI results in repressorswith 110-fold increased binding to both operator andnonoperator DNA. These repressors display a “reverse”induction curve, allowing β-galactosidase synthesis inthe absence of an inducer (IPTG) but partly repressingβ-galactosidase expression in the presence of IPTG. Howcan you explain this? (Note that, when IPTG binds a repressor, it does not completely destroy operator affinity,but rather it reduces affinity 110-fold. Additionally, ascells divide and new operators are generated by thesynthesis of daughter strands, the repressor must findthe new operators by searching along the DNA, rapidlybinding to nonoperator sequences and dissociating fromthem.)Mutations to SRP72 (the RNA component of the signal recognition particle) are known to cause some forms of familial bone marrow failure. Which of the following protein(s) is/are potentially affected by such deleterious mutations? Choose all that apply Epidermal growth factor receptor (EGFR) Cytochrome c Insulin (a secreted protein) uS7 (a small ribosamal subunit protein from all dornains of life) DO00The exchange of materials between RPE cells and the rods and cone cells is very important. Suggest by which membrane transport methods ions, proteins and damaged fragments of rod cells would be taken into the RPE cells. Outline the properties of stem cells which will help to repair the RPE layer of a patients retina after implantation of the thin sheet of cells. Outline how the presence of a base substitution mutation in the ABCA4 gene would result in the synthesis of a protein which cannot carry out its normal function. Need short answer in text solution and ASAP .