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A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome

Nature Genetics volume 15, pages 131–136 (1997)Cite this article

An Erratum to this article was published on 01 April 1997

Abstract

Three genes, RBM1, DAZ and TSPY, map to a small region of the long arm of the human Y chromosome which is deleted in azoospermic men. RBM1, but not DAZ or TSPY, has a Y-linked homologue in marsupials which is transcribed in the testis. This suggests that RBM1has been retained on the Y chromosome because of a critical male-specific function. Marsupial RBM1 is closely related to human RBM1, but, like the related autosomal gene hnRNPG, lacks the amplification of an exon. This suggests that RBM1 evolved from hnRNPGat least 130 million years ago and has undergone internal amplification in primates, as well as independent amplification in several eutherian lineages.

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References

  1. Tiepolo, L. & Zuffardi, O. Localisation of factors controlling spermatogenesis in the non-fluorescent portion of the human Y chromosome long arm. Human Genet 34, 119–124 (1976).

    Article  CAS  Google Scholar 

  2. Chandley, A.C. et al. Deleted Yq in the sterile son of a man with a satellited Y chromosome. J. Med. Genet. 26, 145–53 (1989).

    Article  CAS  Google Scholar 

  3. Ma, K. et al. Towards the molecular localisation of the AZF locus: Mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Human Mol. Genet. 1, 29–33 (1992).

    Article  CAS  Google Scholar 

  4. Ma, K. et al. A Y chromosome gene family with RNA-binding homology: Candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75, 1287–1295 (1993).

    Article  CAS  Google Scholar 

  5. Chandley, A.C. & Cooke, H.J. Human male fertility — Y-linked genes and spermatogenesis. Hum. Mol. Genet. 3, 1449–1452 (1994).

    Article  CAS  Google Scholar 

  6. Elliott, D.J. et al. Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Hum. Mol. Genet. (in the press).

  7. Laval, S.H. et al. Y chromosome short arm-Sxr recombination in XSxr/Y males causes deletion of Rbm and XY female sex reversal. Proc. Natl. Acad. Sci. USA 92, 10403–10407 (1995).

    Article  CAS  Google Scholar 

  8. Soulard, M. et al. HnRNPG: sequence and characterisation of a glycosylated RNA-binding protein. Nucl. Acids Res. 21, 4210–4217 (1993).

    Article  CAS  Google Scholar 

  9. Le Coniat, M., Soulard, M., Della Valle, V., Larsen, C. -J. & Berger, R. Localisation of the human gene encoding heterogeneous nuclear RNA ribonucleoprotein G (hnRNP-G) to chromosome 6p12. Hum. Genet 88, 593–595 (1992).

    Article  CAS  Google Scholar 

  10. Reijo, R. et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet. 10, 383–393 (1995).

    Article  CAS  Google Scholar 

  11. Saxena, R. et al. Origins of the DAZ gene cluster on the human Y chromosome: an autosomal gene was transposed, then repeatedly amplified and pruned. Nature Genet. 14, 292–299 (1996).

    Article  CAS  Google Scholar 

  12. Affara, N. et al. Report of the second international workshop on Y chromosome mapping 1995. Cytogenet. Cell Genet 73, 33–76 (1996).

    Article  CAS  Google Scholar 

  13. Cooke, H.J., Lee, M., Kerr, S. & Ruggiu, M. A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum. Mol. Genet. 5, 513–516 (1996).

    Article  CAS  Google Scholar 

  14. Reijo, R. et al. Mouse autosomal homoldg of DAZ,a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty. Genomics 35, 346–352 (1996).

    Article  CAS  Google Scholar 

  15. Arnemann, J., Jakubiczka, S., Thuring, S. & Schmidtke, J. Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY. Genomics 11, 108–114 (1991).

    Article  CAS  Google Scholar 

  16. Manz, E., Schnieders, F., Brechlin, A.M. & Schmidtke, J. TSPY-related sequences represent a microheterogeneous gene family organised as constitutive elements in DYZ5 tandem repeat units on the human Y chromosome. Genomics 17, 726–731 (1993).

    Article  CAS  Google Scholar 

  17. Schempp, W. et al. Comparative mapping of YRRM-and TSPY-related cosmids in man and hominid apes. Chrom. Res. 3, 227–234 (1995).

    Article  CAS  Google Scholar 

  18. Conrad, C. et al. High-resolution fluorescence in situ hybridization of RBM-and TSPY-related cosmids on released Y chromatin in humans and pygmy chimpanzees. Chrom. Res. 4, 201–206 (1996).

    CAS  Google Scholar 

  19. Graves, J.A.M. The origin and function of the mammalian Y chromosome and Y-borne genes—an evolving understanding. BioEssays 17, 311–320 (1995).

    Article  CAS  Google Scholar 

  20. Foster, J.W. et al. Evolution of sex determination and the Y chromosome: SRY-related sequences in marsupials. Nature 359, 531–533 (1992).

    Article  CAS  Google Scholar 

  21. Sinclair, A.H. et al. Sequences homologous to ZFY, a candidate human sex-determining gene, are autosomal in marsupials. Nature 336, 780–783 (1988).

    Article  CAS  Google Scholar 

  22. Elliott, D. J. et al. An RBM homologue maps to the mouse Y chromosome and is expressed in germ cells. Hum. Mol. Genet. 5, 869–874 (1996).

    Article  CAS  Google Scholar 

  23. O, W-S., Short, R.V., Renfree, M.B. & Shaw, G. Primary genetic control of sexual differentiation in a mammal. Nature 331, 716–717 (1988).

    Article  CAS  Google Scholar 

  24. Williamson, P., Fletcher, T.P. & Renfree, M.B. Testicular development and maturation of the hypothalamic-pituitary-testicular axis in the male tammar, Macropus eugenii. J. Reprod. Fert. 88, 549–557 (1990).

    Article  CAS  Google Scholar 

  25. Retief, J.D., Krajewski, C., Westerman, M., Winkfein, R.J. & Dixon, G.H. Molecular phylogeny and evolution of marsupial protamine P1 genes. Proc. R. Soc. Lond. B 259, 7–14 (1995).

    Article  CAS  Google Scholar 

  26. Foster, J.W. & Graves, J.A.M., An SRY-related sequence on the marsupial X chromosome: Implications for the evolution of the mammalian testis-determining gene. Proc. Natl. Acad. Sci. USA 91, 1927–1931 (1994).

    Article  CAS  Google Scholar 

  27. Charlesworth, B. More mutations in males? Curr. Biol. 3, 466–467 (1993).

    Article  CAS  Google Scholar 

  28. Najmabadi, H. et al. Genomic structure of a Y-specific ribonucleic acid binding motif-containing gene: a putative candidate for a subset of male infertility. J. Clin. Endocrinol. Metab. 81, 2159–2164 (1996).

    CAS  PubMed  Google Scholar 

  29. Eberhart, C.G., Maines, J.Z. & Wasserman, S.A. Meiotic cell cycle requirement for a fly homologue of human Deleted in Azoospermia. Nature 381, 783–785 (1996).

    Article  CAS  Google Scholar 

  30. Jakubiczka, S., Schnieders, F. & Schmidtke, J. A bovine homologue of the human TSPY gene. Genomics 17, 732–735 (1993).

    Article  CAS  Google Scholar 

  31. Matthews, M.E. & Reed, K.C. Sequences from a family of bovine Y-chromosomal repeats. Genomics 13, 1267–1273 (1992).

    Article  CAS  Google Scholar 

  32. Nagamine, C.M. The testis-determining gene, SRY, exists in multiple copies in Old World rodents. Genet. Res. 64, 151–159 (1994).

    Article  CAS  Google Scholar 

  33. Mardon, G. et al. Duplication, deletion and polymorphism in the sex-determining region of the mouse Y chromosome. Science 243, 78–80 (1989).

    Article  CAS  Google Scholar 

  34. Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular cloning: a laboratory manual. Second edition. (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, (1989).

  35. Schempp, W. & Meer, B. Cytologic evidence for three human X-chromosomal segments escaping inactivation. Hum. Genet. 63, 171–174 (1983).

    Article  CAS  Google Scholar 

  36. Toder, R., Wilcox, S.A., Smithwick, M. & Graves, J.A.M. The human/mouse imprinted genes IGF2, H19, SNRPN and ZNF127 map to two conserved autosomal clusters in a marsupial. Chromo. Res. 4, 295–300 (1996).

    Article  CAS  Google Scholar 

  37. Wilcox, S.A., Toder, R. & Foster, J.W. Rapid isolation of recombinant lambda phage DNA for use in fluorescence in situ hybridization. Chrom. Res. 4, 397–398 (1996).

    Article  CAS  Google Scholar 

  38. Lichter, P., Cremer, T., Borden, J., Manuelidis, L. & Ward, D.C. Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum. Genet. 80, 224–234 (1988).

    Article  CAS  Google Scholar 

  39. Harry, J.L., Koopman, P., Brennan, F.E., Graves, J.A.M. & Renfree, M.B. Widespread expression of the testis-determining gene SRY in a marsupial. Nature Genet. 11, 347–349 (1995).

    Article  CAS  Google Scholar 

  40. Thompson, J.D., Higgins, D.G. & Gibson, T. J. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucl. Acids Res. 22, 4673–4680 (1994).

    Article  CAS  Google Scholar 

  41. Swofford, D.L. (1993) PAUP: Phylogenetic analysis using parsimony, version 3.1.1. Computer program distributed by the Illinois Natural History Survey, Champaign, Illinois.

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Author notes

  1. Kun Ma and Ann C. Chandley: Correspondence should be addressed to M.L.D.

Authors and Affiliations

  1. School of Genetics and Human Variation, La Trobe University, Bundoora, Victoria, 3083, Australia

    Margaret L. Delbridge, Roland Toder, Rachel J. Waugh O'Neill & Jennifer A. Marshall Graves

  2. Department of Zoology, Melbourne University, Parkville, Victoria, 3052, Australia

    Jenny L. Harry

  3. MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2xU, UK

    Kun Ma & Ann C. Chandley

Authors
  1. Margaret L. Delbridge
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  7. Jennifer A. Marshall Graves
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Delbridge, M., Harry, J., Toder, R. et al. A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome. Nat Genet 15, 131–136 (1997). https://doi.org/10.1038/ng0297-131

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