title: Structural and evolutionary characterization of the human sorbitol dehydrogenase gene duplication.
abstract: We have established that two very closely homologous human sorbitol dehydrogenase sequences lie within 0.5 Mb on Chromosome 15. We have defined the relative orientation of SORD1 and SORD2 genes with respect to both the centromere and each other and established their exact chromosome location. In addition, we have identified polymorphic variants in the locus, which may be useful, in association studies to predict predisposition to clinical problems resulting from decreased conversion of cellular sorbitol to fructose. To define the evolutionary relationship of these human genes, SORD from the marmoset was also sequenced for comparison. Marmoset SORD, which appears to be a single gene in this species, shows significantly less homology with either SORD1 or SORD2 than they do with each other, suggesting that the human homologs represent a recent gene duplication event. A hypothesis is presented to explain the retention of the redundant SORD2 sequence in the human genome.
authors.affiliation: Molecular Medicine Unit, University of Leeds, Clinical Sciences Building, St James's University Hospital, Leeds LS9 7TF, United Kingdom.
authors.forename: I M
authors.initials: IM
authors.lastname: Carr
authors.forename: A
authors.initials: A
authors.lastname: Whitehouse
authors.forename: P L
authors.initials: PL
authors.lastname: Coletta
authors.forename: A F
authors.initials: AF
authors.lastname: Markham
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002144:Callithrix; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D020451:Contig Mapping; D004247:DNA / Q000737:chemistry / Q000235:genetics; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D019143:Evolution, Molecular; D020440:Gene Duplication; D015723:Gene Library; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007064:L-Iditol 2-Dehydrogenase / Q000235:genetics*; D008969:Molecular Sequence Data; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid
chemical_list: D018076:DNA, Complementary; D004247:DNA; D007064:L-Iditol 2-Dehydrogenase