title: Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex.
abstract: We report the isolation of a 22-kb human genomic clone (G7) that contains 8 exons encoding a partial mitochondrial presequence, the entire mature peptide and the complete 3' untranslated region of the E1 alpha mRNA of human branched-chain alpha-keto acid dehydrogenase complex. Based on this gene structure, exon 9 contains the Tyr393----Asn mutation previously identified in the E1 alpha subunit of Mennonite and other maple syrup urine disease (MSUD) patients. Moreover, the homozygous mutation appears to cause skipping of exon 6 in the mutant E1 alpha transcript. The information on the gene structure for the entire mature E1 alpha subunit will facilitate investigations into the molecular basis of MSUD involving this subunit.
authors.affiliation: Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas 75235.
authors.forename: N
authors.initials: N
authors.lastname: Dariush
authors.forename: C W
authors.initials: CW
authors.lastname: Fisher
authors.forename: R P
authors.initials: RP
authors.lastname: Cox
authors.forename: D T
authors.initials: DT
authors.lastname: Chuang
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA; D005091:Exons; D006801:Humans; D007438:Introns; D007658:Ketone Oxidoreductases / Q000235:genetics*; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000235:genetics*; D015183:Restriction Mapping
chemical_list: D009097:Multienzyme Complexes; D004247:DNA; D007658:Ketone Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)