Human Genetics

, Volume 93, Issue 5, pp 600–602

Chromosomal localization of genes required for the terminal steps of oxidative metabolism: α and γ subunits of ATP synthase and the phosphate carrier

  • Ethylin Wang Jabs
  • Philip J. Thomas
  • Michael Bernstein
  • Cathleen Coss
  • Gloria C. Ferreira
  • Peter L. Pedersen
Short Communications

Abstract

The terminal steps of oxidative phosphorylation include transport of phosphate and ADP into the mitochondrial matrix, synthesis of ATP in the matrix, and transport of the product ATP into the cytosol where it can be utilized to perform cellular work. Three nuclear genome encoded membrane proteins, namely, the phosphate carrier (PHC), the adenine nucleotide carrier (ANT), and the ATP synthase complex, consisting of at least 13 individual subunits, catalyze these reactions. The locations of the α and γ subunits of the mitochondrial ATP synthase complex and the mitochondrial phosphate carrier, PHC, on human chromosomes were determined using cloned rat liver cDNA as probes. Human homologues of the α subunit are on chromosomes 9 and 18, the γ subunit are on chromosomes 10 and 14, and the PHC was localized to chromosome 12.

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References

  1. Breen GA (1988) Bovine liver cDNA clones encoding a precursor of the alpha-subunit of the mitochondrial ATP synthase complex. Biochem Biophys Res Commun 152:264–269Google Scholar
  2. Catterall WA, Coty WA, Pedersen PL (1973) Adenosine triphosphatase from rat liver mitochondria. J Biol Chem 248:7427–7431Google Scholar
  3. Chau CA, Evans MJ, Scarpulla RC (1992) Nuclear respiratory factor 1 activation sites in the genes encoding the γ-subunit of ATP synthase, eukaryotic initiation factor 2α, and tryosine aminotransferase. Specific interaction of purified NRF-1 with multiple target genes. J Biol Chem 267:6999–7006Google Scholar
  4. Drwinga HL, Toji LH, Kim CH, Greene AE, Mulivor RA (1993) NIGMS human/rodent somatic cell hybrid mapping panels 1 and 2. Genomics 16:311–314Google Scholar
  5. Dubois BL, Naylor SL (1993) Characterization of NIGHMS human/rodent somatic cell hybrid mapping panel 2 by PCR. Genomics 16:315–319Google Scholar
  6. Dyer MR, Gay NJ, Powell SJ, Walker JE (1989) ATP synthase from bovine mitochondria: complementary DNA sequence of the mitochondrial import precursor of the γ-subunit and the genomic sequence of the mature protein. Biochemistry 28:3670–3680Google Scholar
  7. Ferreira GC, Pratt RD, Pedersen PL (1989) Energy-linked anion transport: cloning, sequencing, and characterization of a full length cDNA encoding the rat liver mitochondrial proton/phosphate symporter. J Biol Chem 264:15628–15633Google Scholar
  8. Garboczi DN, Fox AH, Gerring SL, Pedersen PL (1988) β subunit of rat liver mitochondrial ATP synthase: cDNA cloning, amino acid sequence, expression in Escherichia coli, and structural relationship to adenylate kinase. Biochemistry 27:553–560Google Scholar
  9. Joziasse DH, Shaper JH, Jabs EW, Shaper NL (1991) Characterization of an α1→3-galactosyltransferase homologue on human chromosome 12 that is organized as a processed pseudogene. J Biol Chem 266:6991–6998Google Scholar
  10. Kudoh J, Minoshima S, Fukuyama R, Maekawa M, Neckelmann NS, Wallace DC, Shimizu Y, Shimizu N (1989) Assignment of the ATP synthase beta subunit (ATPMB) gene to the p13-qter region of human chromosome 12 and two related sequences (ATPMBL1 and ATPMBL2) to chromosome 2 and 17. Cytogenet Cell Genet 51:1026Google Scholar
  11. Lee JH, Garboczi DN, Thomas PJ, Pedersen PL (1990) Mitochondrial ATP synthase: cDNA cloning, amino acid sequence, overexpression, and properties of the rat liver α subunit. J Biol Chem 265:4664–4669Google Scholar
  12. Li K, Warner C, Hodge J, Minoshima S, Kudoh J, Fukuyama R, Maekawa M, Shimizu Y, Shimizu N, Wallace D (1989) A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed. J Biol Chem 264:13998–14004Google Scholar
  13. Pedersen PL, Carafoli E (1987) Ion motive ATPases I: ubiquity, properties, and significance to cell function. Trends Biochem Sci 12:146–150Google Scholar
  14. Tomura H, Endo H, Kagawa Y, Ohta S (1990) Novel regulatory enhancer in the nuclear gene of the human mitochondrial ATP synthase β-subunit. J Biol Chem 265:6525–6527Google Scholar
  15. Walker JE, Powell SJ, Viñas O, Runswick MJ (1989) ATP synthase from bovine mitochondria: complementary DNA seuence of the import precursor of a heart isoform of the α subunit. Biochemistry 28:4702–4708Google Scholar
  16. Webster KA, Oliver NA, Wallace DC (1982) Assignment of an oligomycin-resistance locus to human chromosome 10. Somat Cell Genet 8:223–224Google Scholar

Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • Ethylin Wang Jabs
    • 1
  • Philip J. Thomas
    • 2
  • Michael Bernstein
    • 1
  • Cathleen Coss
    • 1
  • Gloria C. Ferreira
    • 2
  • Peter L. Pedersen
    • 2
  1. 1.Center for Medical Genetics, Department of Pediatrics and MedicineThe Johns Hopkins University School of MedicineBaltimoreUSA
  2. 2.Department of Biological ChemistryThe Johns Hopkins University School of MedicineBaltimoreUSA
  3. 3.Department of PediatricsJohns Hopkins Hospital, CMSC 1004BaltimoreUSA
  4. 4.Department of Biochemistry and Molecular BiologyInstitute of Biomolecular Science, University of South Florida, College of MedicineTampaUSA

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