Determination of Mutation Patterns in Human Ornithine Transcarbamylase Precursor
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Objective. The ornithine transcarbamylase is a mitochondrial matrix homotrimeric enzyme, whose deficiency is the most common genetic defect of the urea cycle and an X-linked semidominant disorder. To understand its mutation pattern is very helpful for managing its clinical manifest and outcome. Methods. The amino-acid pair predictability is used to transfer the symbolized human ornithine transcarbamylase and its 117 missense point mutants to scalar data and classify the amino-acid pairs as predictable and unpredictable in order that we can analyse the mutation pattern in scalar data domain rather than symbol domain. Results. The results show that the mutation is highly likely to occur at the unpredictable amino-acid pairs, and the mutation has the trend to make an amino-acid pair approach predictable. Conclusion. The results provide insight on mutation from the viewpoint based on random mechanism.
Keywordsamino-acid pair mutation ornithine transcarbamylase OTC deficiency
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- 2.Wu G, Yan S. Lecture notes on computational mutation. Nova Science Publisher: New York, 2008.Google Scholar
- 5.Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML; Urea cycle disorders consortium of the rare diseases clinical research network. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab 2008; 94: 397–402.CrossRefPubMedGoogle Scholar
- 11.http://www.expasy.org/sprot/uniprot/P00480. Access number P00480, the last annotations on January 15, 2008, Entry version 114.
- 12.Amino-acid pair predictability. http://www.dreamscitech.com/Service/rationale.htm. 2008.
- 16.Ogino W, Takeshima Y, Nishiyama A, Okizuka Y, Yagi M, Tsuneishi S, Saiki K, Kugo M, Matsuo M. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation. Kobe J Med Sci 2007; 53: 229–240.PubMedGoogle Scholar
- 33.Yan S, Wu G. Describing evolution of hemagglutinins from influenza A viruses using a differential equation. Protein Pept Lett (in press).Google Scholar
- 37.Wilcken B Problems in the management of urea cycle disorders. Mol Genet Metab 2004; 81 Suppl 1: S86–S91.Google Scholar