title: Molecular cloning of human mitochondrial glycerophosphate dehydrogenase gene: genomic structure, chromosomal localization, and existence of a pseudogene.
abstract: cDNA of mitochondrial glycerophosphate dehydrogenase (mGPDH), a defect of which is a possible cause of non-insulin dependent diabetes mellitus, was cloned from a human insulinoma cDNA library. The deduced amino acid sequence showed 91% and 92% homology with those of rat and mouse mGPDH, respectively. The mGPDH gene was mapped to chromosome 2q23 by FISH analysis. Genomic clones for mGPDH were then isolated using mouse mGPDH cDNA and PCR products of human mGPDH cDNA as probes. Genomic structure was studied by sequencing the exon-intron boundaries and by PCR amplification of intronic regions using genomic clones as templates. The human mGPDH gene was shown to be composed of 15 coding exons, containing a (CA)n repeat region inside the gene, which was not polymorphic in the Japanese population. Genomic cloning also identified a pseudogene located on chromosome 19q13.4. These results provide information useful for analyzing the mGPDH gene in patients with non-insulin dependent diabetes mellitus.
authors.affiliation: Third Department of Internal Medicine, Yamaguchi University School of Medicine, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Matsutani
authors.forename: Y
authors.initials: Y
authors.lastname: Takeuchi
authors.forename: H
authors.initials: H
authors.lastname: Ishihara
authors.forename: S
authors.initials: S
authors.lastname: Kuwano
authors.forename: Y
authors.initials: Y
authors.lastname: Oka
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D017931:DNA Primers; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D005091:Exons; D005993:Glycerolphosphate Dehydrogenase / Q000096:biosynthesis* / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007340:Insulinoma / Q000235:genetics; D007438:Introns; D051379:Mice; D008928:Mitochondria / Q000201:enzymology*; D008969:Molecular Sequence Data; D010190:Pancreatic Neoplasms / Q000235:genetics; D016133:Polymerase Chain Reaction; D011544:Pseudogenes; D051381:Rats; D011994:Recombinant Proteins / Q000096:biosynthesis / Q000737:chemistry; D017386:Sequence Homology, Amino Acid
chemical_list: D017931:DNA Primers; D011994:Recombinant Proteins; D005993:Glycerolphosphate Dehydrogenase