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 dTTP
Nucleotides
It is an organic molecule made up of three basic components- a nitrogenous base, phosphate,and pentose sugar. The nucleotides are important for metabolic reactions andthe formation of DNA (deoxyribonucleic acid) and RNA (ribonucleic acid).
Nucleic Acids
Nucleic acids are essential biomolecules present in prokaryotic and eukaryotic cells and viruses. They carry the genetic information for the synthesis of proteins and cellular replication. The nucleic acids are of two types: deoxyribonucleic acid (DNA) and ribonucleic acid (RNA). The structure of all proteins and ultimately every biomolecule and cellular component is a product of information encoded in the sequence of nucleic acids. Parts of a DNA molecule containing the information needed to synthesize a protein or an RNA are genes. Nucleic acids can store and transmit genetic information from one generation to the next, fundamental to any life form.
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 dTTP
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