title: The human pyruvate dehydrogenase complex: a polymorphic region of the lipoate acetyl transferase (E2) subunit gene.
abstract: A major issue in the study of the pathogenesis of primary biliary cirrhosis is whether the E2 subunit of the pyruvate dehydrogenase complex (PDH-E2), the major autoantigen in the disease, exists as a tissue-specific isoform. cDNA clones spanning a segment of the 3'-catalytic region of PDH-E2 (nt 1158-1361) have been isolated from human kidney, placenta and bile epithelium cells. Nucleotide sequence analysis of the clones showed differences consistent with the presence of normal variants of PDH-E2 in the human population. However, the existence of tissue-specific isoforms of PDH-E2 cannot yet be discounted.
authors.affiliation: Department of Biochemistry, Monash University, Clayton, Australia.
authors.forename: L H
authors.initials: LH
authors.lastname: Moehario
authors.forename: L
authors.initials: L
authors.lastname: Wang
authors.forename: R J
authors.initials: RJ
authors.lastname: Devenish
authors.forename: I R
authors.initials: IR
authors.lastname: Mackay
authors.forename: S
authors.initials: S
authors.lastname: Marzuki
mesh_terms: D000123:Acetyltransferases / Q000235:genetics*; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D001652:Bile Ducts / Q000201:enzymology; D003001:Cloning, Molecular; D051047:Dihydrolipoyllysine-Residue Acetyltransferase; D004848:Epithelium / Q000201:enzymology; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007527:Isoenzymes; D007668:Kidney / Q000201:enzymology; D008105:Liver Cirrhosis, Biliary / Q000201:enzymology*; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides / Q000235:genetics; D010920:Placenta / Q000201:enzymology; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*
chemical_list: D007527:Isoenzymes; D009838:Oligodeoxyribonucleotides; D011768:Pyruvate Dehydrogenase Complex; D000123:Acetyltransferases; D051047:Dihydrolipoyllysine-Residue Acetyltransferase