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- Orotic aciduria is a rare hereditary disorder due to deficient orotate phosphoribosyltransferase and orotidine-5'-decarboxylase activities that are encoded by Uridylate (UMP) synthetase gene in de novo pyrimidine biosynthesis. The characteristic of this disorder is excessive excretion of orotic acid in urine. A mutation of UMP synthetase gene has been identified as R96G (at amino acid position 96, Arginine is changed to Glycine). In orotic aciduria, predict the consequences of deficient UMP synthetase by identifying which downstream enzyme missing its action. One of important molecules to be derived from pyrimidine biosynthesis is deoxycytidine triphosphate (dCTP) for DNA replication and repair. How is dCTP synthesized, include what enzymes and important intermediates in the pathway? 3. As thymidine triphosphate (dTTP) is needed for DNA replication and repair, what enzymes and intermediates are required to get dTTPIncluding the carbamoyl phosphate synthetase step (CPS I) and the four steps of the urea cycle, how many ATP equivalents (phosphoanhydride bonds) are utilized to drive the formation of one urea molecule?An enzyme that catalyzes disulfide– sulfhydryl exchange reactions, called protein disulfide isomerase (PDI), has been isolated. PDI rapidly converts inactive scrambled ribonuclease into enzymatically active ribonuclease. In contrast, insulin is rapidly inactivated by PDI. What does this important observation imply about the relation between the amino acid sequence of insulin and its threedimensional structure?
- Argininosuccinic aciduria is a condition that results when the urea-cycle enzyme argininosuccinase is deficient. Argininosuccinate is present in the blood and urine. Suggest how this condition might be treated while still removing nitrogen from the body.The sucrose substitute tagatose is produced by hydrolyzing lactose and then chemically converting one of the two resulting aldoses to a ketose. Which residue of lactose gives rise to tagatose?By definition, essential amino acids are not synthesized by an organism. Arginine is classified as an essential amino acid in infants, even though it is part of the urea cycle. Explain.
- Other symptoms of congenital adrenal hyperplasia include excess facial hair in women and early puberty and men from the effects of excess testosterone. Using the law of a mass action explain why this mutation results in excess testosterone production use the name of the substrate and the product of the reaction? Discuss the two roles of N-acetylglutamate in the urea cycle. Include relevant chemical structures and reactions. What is the regulatory function of N-acetylglutamate in the urea cycle? What is the other role of N-acetylglutamate in relationship to the urea cycle? Glutamate is the precursor for N-acetylglutamate. How is glutamate involved in the connection between the urea cycle and the CAC?Glucose-6-phosphatase deficiency (G6PD), also known as von Gierke disease, is glycogen storage disease. It is an autosomal recessive disease occurring most frequently in males of African or Middle Eastern descent. G6PD is involved in many reactions, but we will focus on the following simplified pathway: The conversion of glycogen to glucose is called:
- Each of the hydroxyl groups of glucose can be methylated with reagents such as dimethyl sulfate under basic conditions. Explain how exhaustive methylation followed by the complete digestion of a known amount of glycogen would enable you to determine the number of branch points and reducing ends.Lactose permease, a protein of E. coli, is composed of a singlepolypeptide that is 417 amino acids in length. By convention, theamino acids within a polypeptide are numbered from the aminoterminalend to the carboxyl-terminal end. Are the following questionsabout lactose permease true or false?A. Because the sixty-fourth amino acid is glycine and the sixty- eighth amino acid is aspartic acid, the codon for glycine,64, is closer to the 3′ end of the mRNA than the codon for aspartic acid, 68.B. The mRNA that encodes lactose permease must be greater than1241 nucleotides in length.What does this important observation imply about the relation between the amino acid sequence of insulin and its three-dimensional structure?