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Title

Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2
Authors
Chen, H.
Morris, Michael Andréw
Rossier, Colette
Blouin, Jean-Louis
Antonarakis, Stylianos
Published in Genomics. 1995, vol. 28, no. 3, p. 470-476
Abstract Exon trapping was used to clone portions of potential genes from human chromosome 21. One trapped sequence showed striking homology with the bovine and rat ATP synthase OSCP (oligomycin sensitivity conferring protein) subunit. We subsequently cloned the full-length human ATP synthase OSCP cDNA (GDB/HGMW approved name ATP50) from infant brain and muscle libraries and determined its nucleotide and deduced amino acid sequence (EMBL/GenBank Accession No. X83218). The encoded polypeptide contains 213 amino acids, with more than 80% identity to bovine and murine ATPase OSCP subunits and over 35% identity to Saccharomyces cerevisiae and sweet potato sequences. The human ATP5O gene is located at 21q22.1-q22.2, just proximal to D21S17, in YACs 860G11 and 838C7 of the Chumakov et al. (Nature 359:380, 1992) YAC contig. The gene is expressed in all human tissues examined, most strongly in muscle and heart. This ATP5O subunit is a key structural component of the stalk of the mitochondrial respiratory chain F1F0-ATP synthase and as such may contribute in a gene dosage-dependent manner to the phenotype of Down syndrome (trisomy 21).
Keywords Adenosine Triphosphatases/ genetics — Amino Acid Sequence — Animals — Base Sequence — Blotting, Northern — Blotting, Southern — Carrier Proteins — Cattle — Chromosome Mapping — Chromosomes, Human, Pair 21 — Cloning, Molecular — DNA, Complementary — Exons — Humans — Infant — Membrane Proteins/ genetics — Molecular Sequence Data — Proton-Translocating ATPases/ genetics — Rats — Sequence Homology, Amino Acid
Identifiers
PMID: 7490082
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Article - document accessible for UNIGE members only Limited access to UNIGE
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Faculté de médecine / Section de médecine clinique / Département de médecine interne des spécialités
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(ISO format) 		CHEN, H. et al. Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2. In: Genomics, 1995, vol. 28, n° 3, p. 470-476. https://archive-ouverte.unige.ch/unige:8678

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Deposited on : 2010-07-12

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