Functional equivalence of human X– and Y–encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome (original) (raw)

References

  1. Ohno, S. Sex chromosomes and sex-linked genes. (Springer-Verlag, New York, 1967).
    Book Google Scholar
  2. Goodfellow, P.J., Darling, S.M., Thomas, N.S. & Goodfellow, P.N. A pseudoautosomal gene in man. Science 234, 740–743 (1986).
    Article CAS PubMed Google Scholar
  3. Gough, N.M. et al. Localization of the human GM-CSF receptor gene to the X-Y pseudoautosomal region. Nature 345, 734–736 (1990).
    Article CAS PubMed Google Scholar
  4. Ellison, J. et al. Directed isolation of human genes that escape X inactivation. Somat. Cell molec. Genet. 18, 259–268 (1992).
    Article CAS PubMed Google Scholar
  5. Schiebel, K., Weiss, B., Wöhrle, D. & Rappold, G. A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X-inactivation. Nature Genet. 3, 82–87 (1993).
    Article CAS PubMed Google Scholar
  6. Schneider-Gädicke, A., Beer-Romero, P., Brown, L.G., Nussbaum, R. & Page, D.C. ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation. Cell 57, 1247–1258 (1989).
    Article PubMed Google Scholar
  7. Fisher, E.M.C. et al. Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for Turner syndrome. Cell 63, 1205–1218 (1990).
    Article CAS PubMed Google Scholar
  8. Salido, E.C., Yen, P.H., Koprivnikar, K., Yu, L.-C. & Shapiro, L.J. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am. J. hum. Genet. 50, 303–316 (1992).
    CAS PubMed PubMed Central Google Scholar
  9. Mitchell, M.J., Woods, D.R., Tucker, P.K., Opp, J.S. & Bishop, C.E. Homology of a candidate spermatogenic gene from the mouse Y chromosome to the ubiquitin-activating enzyme El. Nature 354, 483–486 (1991).
    Article CAS PubMed Google Scholar
  10. Kay, G.F. et al. A candidate spermatogenesis gene on the mouse Y chromosome is homologous to ubiquitin-activating enzyme E1. Nature 354, 486–489 (1991).
    Article CAS PubMed Google Scholar
  11. Wool, I.G., Chan, Y.-L., Paz, V. & Olvera, J. The primary structure of rat ribosomal proteins: The amino acid sequences of L27a and L28 and corrections in the sequences of S4 and S12. Biochim. Biophys. Acta 1050, 69–73 (1990).
    Article CAS PubMed Google Scholar
  12. Zinn, A.R. et al. Inactivation of the Rps4 gene on the mouse X chromosome. Genomics 11, 1097–1101 (1991).
    Article CAS PubMed Google Scholar
  13. Synetos, D., Dabeva, M.D. & Warner, J.R. The yeast ribosomal protein S7 and its genes. J. biol. Chem. 267, 3008–3013 (1992).
    CAS PubMed Google Scholar
  14. Nishimoto, T. & Basilico, C. Analysis of a method for selecting temperature-sensitive mutants of BHK cells. Somat. Cell Genet. 4, 323–340 (1978).
    Article CAS PubMed Google Scholar
  15. Watanabe, M. et al. Molecular cloning of the human gene, CCG2, that complements the BHK-derived temperature-sensitive cell cycle mutant tsBN63—identity of CCG2 with the human X-chromosomal SCAR/RPS4X gene. J. cell Sci. 100, 35–43 (1991).
    PubMed Google Scholar
  16. Nishimoto, T. et al. Large-scale selection and analysis of temperature-sensitive mutants for cell reproduction from BHK cells. Somat. Cell Genet. 8, 811–824 (1982).
    Article CAS PubMed Google Scholar
  17. Ashworth, A., Rastan, S., Lovell-Badge, R. & Kay, G. X-chromosome inactivation may explain the difference in viability of XO humans and mice. Nature 351, 406–408 (1991).
    Article CAS PubMed Google Scholar
  18. Hamvas, R.M. et al. Rps4 maps near the inactivation center on the mouse X chromosome. Genomics 12, 363–367 (1992).
    Article CAS PubMed Google Scholar
  19. Hayakawa, H., Koike, G. & Sekiguchi, M. Expression and cloning of complementary DNA for a human enzyme that repairs O6-methylguanine in DNA. J. molec. Biol. 213, 739–747 (1990).
    Article CAS PubMed Google Scholar
  20. Woolford, J.J. The structure and biogenesis of yeast ribosomes. Adv. Genet. 29, 63–118 (1991).
    Article CAS PubMed Google Scholar
  21. Ford, C.E., Jones, K.W., Polani, P.E., De Almeida, J.C. & Briggs, J.H. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet i, 711–713 (1959).
    Article Google Scholar
  22. Lippe, B. Turner syndrome. Endocrinol. Metab. Clin. North Am. 20, 121–152 (1991).
    Article CAS PubMed Google Scholar
  23. Ferguson-Smith, M.A. Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. med. Genet. 2, 142–155 (1965).
    Article CAS PubMed PubMed Central Google Scholar
  24. Page, D.C., Fisher, E.M., McGillivray, B. & Brown, L.G. Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female. Nature 346, 279–281 (1990).
    Article CAS PubMed Google Scholar
  25. Ballabio, A. et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc. natn. Acad. Sci. U.S.A. 86, 10001–10005 (1989).
    Article CAS Google Scholar
  26. Levilliers, J., Quack, B., Weissenbach, J. & Petit, C. Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females. Proc. natn. Acad. Sci. U.S.A. 86, 2296–2300 (1989).
    Article CAS Google Scholar
  27. Just, W., Geerkens, C., Held, K.R. & Vogel, W. Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome. Hum. Genet. 89, 240–242 (1992).
    Article CAS PubMed Google Scholar
  28. Studier, F.W. & Moffatt, B.A. Use of bacteriophage T7 RNA polymerase to direct selective high-level expression of cloned genes. J. molec. Biol. 189, 113–130 (1986).
    Article CAS PubMed Google Scholar
  29. Szewczyk, B. & Kozloff, L.M. A method for the efficient blotting of strongly basic proteins from sodium dodecyl sulfate-polyacrylamide gels to nitrocellulose. Anal. Biochem. 150, 403–407 (1985).
    Article CAS PubMed Google Scholar

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