title: Structural organization of the human sorbitol dehydrogenase gene (SORD).
abstract: The primary structure of human sorbitol dehydrogenase (SORD) was determined by cDNA and genomic cloning. The nucleotide sequence of the mRNA covers 2471 bp including an open reading frame that yields a protein of 356 amino acid residues. The gene structure of SORD spans approximately 30 kb divided into 9 exons and 8 introns. The gene was localized to chromosome 15q21.1 by in situ hybridization. Two transcription initiation sites were detected. Three Sp1 sites and a repetitive sequence (CAAA)5 were observed in the 5' noncoding region; no classical TATAA or CCAAT elements were found. The related alcohol dehydrogenases and zeta-crystallin have the same gene organization split by 8 introns, but no splice points coincide between SORD and these gene types. The deduced amino acid sequence of the SORD structure differs at a few positions from the directly determined protein sequence, suggesting allelic forms of the enzyme. High levels of SORD transcripts were observed in lens and kidney, as judged from Northern blot analysis.
authors.affiliation: Laboratory of Mechanisms of Ocular Diseases, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors.forename: T
authors.initials: T
authors.lastname: Iwata
authors.forename: N C
authors.initials: NC
authors.lastname: Popescu
authors.forename: D B
authors.initials: DB
authors.lastname: Zimonjic
authors.forename: C
authors.initials: C
authors.lastname: Karlsson
authors.forename: J O
authors.initials: JO
authors.lastname: Höög
authors.forename: G
authors.initials: G
authors.lastname: Vaca
authors.forename: I R
authors.initials: IR
authors.lastname: Rodriguez
authors.forename: D
authors.initials: D
authors.lastname: Carper
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D003001:Cloning, Molecular; D005091:Exons; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007668:Kidney / Q000378:metabolism; D007064:L-Iditol 2-Dehydrogenase / Q000096:biosynthesis / Q000235:genetics*; D007908:Lens, Crystalline / Q000378:metabolism; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic; D051381:Rats; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
chemical_list: D007064:L-Iditol 2-Dehydrogenase