Characterization of cDNAs encoding human pyruvate dehydrogenase. alpha. subunit

Journal Article · Sat Jul 01 00:00:00 EDT 1989 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.86.14.5330· OSTI ID:5433754

Ho, Lap; Wexler, I D; Liu, Techung; Thekkumkara, T J; Patel, M S ^[1]

---

1. Case Western Reserve Univ. School of Medicine, Cleveland, OH (USA)

A cDNA clone (1,423 base pairs) comprising the entire coding region of the precursor form of the {alpha} subunit of pyruvate dehydrogenase (E{sub 1}{alpha}) has been isolated from a human liver cDNA library in phage {lambda}gt11. The first 29 amino acids deduced from the open reading frame correspond to a typical mitochondrial targeting leader sequence. The remaining 361 amino acids, starting at the N terminus with phenylalanine, represent the mature mitochondrial E{sub 1}{alpha} peptide. The cDNA has 43 base pairs in the 5{prime} untranslated region and 210 base pairs in the 3{prime} untranslated region, including a polyadenylylation signal and a short poly(A) tract. The nucleotide sequence of human liver E{sub 1}{alpha} cDNA was confirmed by the nucleotide sequences of three overlapping fragments generated from human liver and fibroblast RNA by reverse transcription and DNA amplification by the polymerase chain reaction. This consensus nucleotide sequence of human liver E{sub 1}{alpha} cDNA resolves existing discrepancies among three previously reported human E{sub 1}{alpha} cDNAs and provides the unambiguous reference sequence needed for the characterization of genetic mutations in pyruvate dehydrogenase-deficient patients.

• OSTI ID: 5433754
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (USA) Vol. 86:14; ISSN PNASA; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

550201* -- Biochemistry-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
AMINO ACID SEQUENCE
ANIMALS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BODY
DAYS LIVING RADIOISOTOPES
DIGESTIVE SYSTEM
DISEASES
DNA
DNA SEQUENCING
ELECTROPHORESIS
ENZYMES
ESTERASES
GENE AMPLIFICATION
GLANDS
HEMIACETAL DEHYDROGENASES
HEREDITARY DISEASES
HYDROLASES
ISOTOPES
LIGHT NUCLEI
LIVER
MAMMALS
MAN
MOLECULAR STRUCTURE
NUCLEASES
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
ORGANS
OXIDOREDUCTASES
PHOSPHODIESTERASES
PHOSPHORUS 32
PHOSPHORUS ISOTOPES
PRIMATES
RADIOISOTOPES
RECOMBINANT DNA
STRUCTURAL CHEMICAL ANALYSIS
VERTEBRATES