title: Structural organization and mapping of the human mitochondrial glycerol phosphate dehydrogenase-encoding gene and pseudogene.
abstract: Mitochondrial glycerol phosphate dehydrogenase (mtGPD) is the rate-limiting enzyme in the glycerol phosphate shuttle, which is thought to play an important role in cells that require an active glycolytic pathway. Abnormalities in mtGPD have been proposed as a potential cause for non-insulin-dependent diabetes mellitus. To facilitate genetic studies, we have isolated genomic clones containing the coding regions of the human mtGPD-encoding gene (GPDM). The gene contains 17 exons and is estimated to span more than 80 kb. All splice junctions contain GT/AG consensus sequences. Introns interrupt the sequences encoding the leader peptide, the FAD-binding site, the calcium-binding regions, and a conserved central element postulated to play a role in glycerol phosphate binding. Fluorescence in situ hybridization was used to map this gene to chromosome 2, band q24.1. A retropseudogene was identified and mapped to chromosome 17.
authors.affiliation: University of Wisconsin Children's Diabetes Center, Madison 53706, USA.
authors.forename: L J
authors.initials: LJ
authors.lastname: Brown
authors.forename: M
authors.initials: M
authors.lastname: Stoffel
authors.forename: S M
authors.initials: SM
authors.lastname: Moran
authors.forename: A A
authors.initials: AA
authors.lastname: Fernald
authors.forename: D A
authors.initials: DA
authors.lastname: Lehn
authors.forename: M M
authors.initials: MM
authors.lastname: LeBeau
authors.forename: M J
authors.initials: MJ
authors.lastname: MacDonald
mesh_terms: D001483:Base Sequence; D002237:Carbohydrate Dehydrogenases / Q000235:genetics* / Q000378:metabolism; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D018076:DNA, Complementary; D005091:Exons; D006801:Humans; D007438:Introns; D008928:Mitochondria / Q000201:enzymology*; D008969:Molecular Sequence Data; D011544:Pseudogenes
chemical_list: D018076:DNA, Complementary; D002237:Carbohydrate Dehydrogenases; C056470:3-glycerophosphate dehydrogenase