title: X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex.
abstract: The functional gene locus for the E1 alpha subunit of the human pyruvate dehydrogenase complex has been localized to the p22.1-22.2 region of the X chromosome by in situ hybridization and analysis of somatic cell hybrids with various human X-chromosome rearrangements. Another locus showing significant cross-hybridization with an E1 alpha cDNA probe was detected on chromosome 4, in the region q22. The X-chromosome localization of the pyruvate dehydrogenase E1 alpha subunit gene provides a number of possible explanations for the clinical and biochemical variability which is a major feature of human pyruvate dehydrogenase deficiency.
authors.affiliation: Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Australia.
authors.forename: R M
authors.initials: RM
authors.lastname: Brown
authors.forename: H H
authors.initials: HH
authors.lastname: Dahl
authors.forename: G K
authors.initials: GK
authors.lastname: Brown
mesh_terms: D000818:Animals; D015139:Blotting, Southern; D015153:Blotting, Western; D002262:Carboxy-Lyases / Q000235:genetics*; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D006801:Humans; D046911:Macromolecular Substances; D008297:Male; D051379:Mice; D011767:Pyruvate Decarboxylase / Q000235:genetics*; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000235:genetics; D014960:X Chromosome
chemical_list: D046911:Macromolecular Substances; D011768:Pyruvate Dehydrogenase Complex; D002262:Carboxy-Lyases; D011767:Pyruvate Decarboxylase