Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes |
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Authors: | Chien-an A Hu D Bart Williams Siqin Zhaorigetu Shadi Khalil Guanghua Wan David Valle |
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Institution: | Department of Biochemistry and Molecular Biology, University of New Mexico School of Medicine, Albuquerque, NM 87131, USA. ahu@salud.unm.edu |
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Abstract: | Proline metabolism in mammals involves two other amino acids, glutamate and ornithine, and five enzymatic activities, Δ1-pyrroline-5-carboxylate (P5C) reductase (P5CR), proline oxidase, P5C dehydrogenase, P5C synthase and ornithine-δ-aminotransferase
(OAT). With the exception of OAT, which catalyzes a reversible reaction, the other four enzymes are unidirectional, suggesting
that proline metabolism is purpose-driven, tightly regulated, and compartmentalized. In addition, this tri-amino-acid system
also links with three other pivotal metabolic systems, namely the TCA cycle, urea cycle, and pentose phosphate pathway. Abnormalities
in proline metabolism are relevant in several diseases: six monogenic inborn errors involving metabolism and/or transport
of proline and its immediate metabolites have been described. Recent advances in the Human Genome Project, in silico database
mining techniques, and research in dissecting the molecular basis of proline metabolism prompted us to utilize functional
genomic approaches to analyze human genes which encode proline metabolic enzymes in the context of gene structure, regulation
of gene expression, mRNA variants, protein isoforms, and single nucleotide polymorphisms. |
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