title: Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase.
abstract: We report the isolation and analysis of genomic clones containing the entire gene encoding the muscle-specific subunit of human phosphoglycerate mutase. The gene spans 2.83 kilobase pairs and has a three-exon/two-intron structure that is similar to the organization of the human 2,3-bisphosphoglycerate mutase gene (Joulin, V., Garel, M.-C., LeBoulch, P., Valentin, C., Rosa, R., Rosa, J., and Cohen-Solal, M. (1988) J. Biol. Chem. 263, 15785-15790), in that the second introns of both genes are localized precisely at the same position. A canonical TATA box and an inverted CCAAT box are present immediately upstream of this gene. Comparison with other muscle-specific enzyme genes reveals a conserved 9-base pair element (GGGGCTGGG) in the 5'-flanking region that may be associated with the expression of genes encoding muscle-specific enzymes.
authors.affiliation: Third Department of Internal Medicine, Osaka University Hospital, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Tsujino
authors.forename: S
authors.initials: S
authors.lastname: Sakoda
authors.forename: R
authors.initials: R
authors.lastname: Mizuno
authors.forename: T
authors.initials: T
authors.lastname: Kobayashi
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
authors.forename: S
authors.initials: S
authors.lastname: Kishimoto
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: E A
authors.initials: EA
authors.lastname: Schon
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001731:Bisphosphoglycerate Mutase / Q000235:genetics*; D015139:Blotting, Southern; D003001:Cloning, Molecular; D005634:Fructose-Bisphosphate Aldolase / Q000235:genetics; D005796:Genes; D006801:Humans; D046911:Macromolecular Substances; D008969:Molecular Sequence Data; D009132:Muscles / Q000201:enzymology*; D009693:Nucleic Acid Hybridization; D010770:Phosphotransferases / Q000235:genetics*; D011401:Promoter Regions, Genetic; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid
chemical_list: D046911:Macromolecular Substances; D010770:Phosphotransferases; D005634:Fructose-Bisphosphate Aldolase; D001731:Bisphosphoglycerate Mutase