Isolation, characterization and chromosomal localization of cDNA clones for the E1 beta subunit of the pyruvate dehydrogenase complex.
A full-length cDNA clone for the E1 beta subunit of the human pyruvate dehydrogenase (PyrDH) complex was isolated from a human skin fibroblast cDNA library. When sequenced, it showed differences from the nucleotide sequence already published [Koike, K., Ohta, S., Urata, Y., Kagawa, Y. & Koike, M. (1988) Proc. Natl Acad. Sci. USA 85, 41-45], such that 19 amino acids were different in the translated open reading frame. Northern blotting of human fibroblast cell lines revealed a major mRNA species of 1.6 kb and a weaker band of 5.5 kb. In a series of nine PyrDH-complex-deficient cell lines from patients with this deficiency, no patients had severely reduced amounts of mRNA, but there was one patient cell line with an increased amount of abnormal-size mRNA. Chromosome localization carried out with DNA blots from man-mouse hybrid cell lines indicated that the E1 beta subunit of pyruvate dehydrogenase is located on chromosome 3. A motif AXGXXXXGL(R/K)X15(D/E)Q was found in common with a variety of other oxo-acid oxidoreductases, but its function is not known.
Department of Pediatrics, University of Toronto, Hospital for Sick Children, Canada.
K
K
Chun
N
N
Mackay
H F
HF
Willard
B H
BH
Robinson
D000595:Amino Acid Sequence; D015152:Blotting, Northern; D015139:Blotting, Southern; D002461:Cell Line, Transformed; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics*; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008969:Molecular Sequence Data; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000235:genetics; D012313:RNA / Q000032:analysis; D012689:Sequence Homology, Nucleic Acid
D011768:Pyruvate Dehydrogenase Complex; D012313:RNA; D004247:DNA