Mammalian Genome

, Volume 9, Issue 3, pp 226–231 | Cite as

Simian Y Chromosomes: species-specific rearrangements of DAZ, RBM, and TSPY versus contiguity of PAR and SRY

  • Birgitta Gläser
  • Frank Grützner
  • Ulrike Willmann
  • Roscoe Stanyon
  • Norbert Arnold
  • Kay Taylor
  • Wolfgang Rietschel
  • Sylvia Zeitler
  • Roland Toder
  • Werner Schempp
Original Contributions

Abstract

The three human male specific expressed gene families DAZ, RBM, and TSPY are known to be repetitively clustered in the Y-specific region of the human Y Chromosome (Chr). RBM and TSPY are Y-specifically conserved in simians, whereas DAZ cannot be detected on the Y chromosomes of New World monkeys. The proximity of SRY to the pseudoautosomal region (PAR) is highly conserved and thus most effectively stabilizes the pseudoautosomal boundary on the Y (PABY) in simians. In contrast, the non-recombining part of the Y Chrs, including DAZ, RBM, and TSPY, was exposed to species-specific amplifications, diversifications, and rearrangements. Evolutionary fast fixation of any of these variations was possible as long as they did not interfere with male fertility.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Arnemann J, Epplen JT, Cooke HJ, Sauermann U, Engel W, Schmidtke J (1987) A human Y-chromosomal DNA sequence expressed in testicular tissue. Nucleic Acids Res 15, 8713–8724PubMedCrossRefGoogle Scholar
  2. Arnemann J, Jakubiczka S, Thüring S, Schmidtke J (1991) Cloning and sequence analysis of a human Y chromosome-derived, testicular cDNA, TSPY. Genomics 11, 108–114PubMedCrossRefGoogle Scholar
  3. Chandley AC, Cooke HJ (1994) Human male fertility-Y-linked genes and spermatogenesis. Hum Mol Genet 3, 1449–1452PubMedGoogle Scholar
  4. Conrad D, Hierl T, Gläser B, Taylor K, Zeitler S, Chandley AC, Schempp W (1996) High-resolution fluoresence in situ hybridization of RBM-and TSPY-related cosmids on released Y chromatin in humans and pygmy chimpanzees. Chromosome Res 4, 201–206PubMedCrossRefGoogle Scholar
  5. Cooke HJ, Elliott EJ (1997) RNA-binding proteins and human male infertility. Trends Genet 13, 87–89PubMedCrossRefGoogle Scholar
  6. Cooke HJ, Lee M, Kerr S, Ruggiu M (1996) A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum Mol Genet 5, 513–516PubMedCrossRefGoogle Scholar
  7. Delbridge ML, Harry JL, Toder R (1997) Human candidate spermatogenesis gene, RBM 1, is conserved and amplified on the marsupial Y chromosome. Nat Genet 15, 131–136PubMedCrossRefGoogle Scholar
  8. Elliott DJ, Millar MR, Oghene K, Ross A, Kiesewetter F, Pryor J, Mcintyre M, Hargreave TB, Saunders PTK, Vogt PH, Chandley AC, Cooke H (1997) Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome. Proc Natl Acad Sci USA 94, 3848–3853PubMedCrossRefGoogle Scholar
  9. Ellis NA, Goodfellow PN (1989) The mammalian pseudoautosomal region. Trends Genet 5, 406–410PubMedCrossRefGoogle Scholar
  10. Fraser N, Ballabio A, Zollo M, Persico G, Craig IW (1987) Identification of incomplete coding sequences for steroid sulphatase on the human Y chromosome: evidence for an ancestral pseudoautosomal gene? Development 101 Suppl, 127–132PubMedGoogle Scholar
  11. Gläser B, Grützner F, Taylor K, Schiebel K, Meroni G, Tsioupra K, Pasantes J, Rietschel W, Toder R, Willmann U, Zeitler S, Yen P, Ballabio A, Rappold G, Schempp W (1997a) Comparative mapping of Xp22 genes in hominoids—evolutionary linear instability of their Y homologues. Chromosome Res 5, 167–176PubMedCrossRefGoogle Scholar
  12. Gläser B, Hierl T, Taylor K, Schiebel K, Zeitler S, Papadopoullos K, Rappold G, Schempp W (1997b) High-resolution fluorescence in situ hybridization of human Y-linked genes on released chromatin. Chromosome Res 5, 23–30PubMedCrossRefGoogle Scholar
  13. Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed RM, Thomson EJ, Jobling M, Taylor K, Wolfe J, Cooke HJ, Hargreave TB, Chandley AC (1993) A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75, 1287–1295PubMedCrossRefGoogle Scholar
  14. Martin RD (1993) Primate origins: plugging the gaps. Nature 363, 223–234PubMedCrossRefGoogle Scholar
  15. Müller G, Schempp W (1991) Comparative mapping of ZFY in the hominoid apes. Hum Genet 88, 59–63PubMedCrossRefGoogle Scholar
  16. Reijo R, Lee T-Y, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, de la Chapelle A, Silber S, Page DC (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10, 383–392PubMedCrossRefGoogle Scholar
  17. Reijo R, Seligman J, Dinulos MB (1996) Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty. Genomics 35, 346–352PubMedCrossRefGoogle Scholar
  18. Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM, Page DC (1996) The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat Genet 14, 292–299PubMedCrossRefGoogle Scholar
  19. Schempp W, Weber B, Müller G (1989) Mammalian sex-chromosome evolution: a conserved homoeologous segment on the X and Y chromosomes in primates. Cytogenet Cell Genet 50, 201–205PubMedCrossRefGoogle Scholar
  20. Schempp W, Toder R, Rietschel W, Grützner F, Mayerová A, Gauckler A (1993) Inverted and satellited Y chromosome in the orangutan (Pongo pygmaeus). Chromosome Res 1, 69–75PubMedCrossRefGoogle Scholar
  21. Schempp W, Binkele A, Arnemann J, Gläser B, Ma K, Taylor K, Toder R, Wolfe J, Zeitler S, Chandley AC (1995) Comparative mapping of YRRM-and TSPY-related cosmids in man and hominoid apes. Chromosome Res 3, 227–234PubMedCrossRefGoogle Scholar
  22. Schnieders F, Dork T, Arnemann J, Vogel T, Werner M, Schmidtke J (1996) Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues. Hum Mol Genet 5, 1801–1807PubMedCrossRefGoogle Scholar
  23. Seuánez H, Evans HJ, Martin DE, Fletcher J (1979) An inversion of chromosome 2 that distinguishes between Bornean and Sumatran orangutans. Cytogenet Cell Genet 23, 137–140PubMedCrossRefGoogle Scholar
  24. Shan Z, Hirschmann P, Seebacher T, Edelmann A, Jarich A, Morell J, Urbitsch P, Vogt PH (1996) A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad. Hum Mol Genet 5, 2005–2011PubMedCrossRefGoogle Scholar
  25. Taylor K, Hornigold N, Conway D, Williams D, Ulinowski Z, Agochiya M, Fattorini P, de Jong P, Little P, Wolfe J (1996) Mapping the human Y chromosome by fingerprinting cosmid clones. Genome Res 6, 235–248PubMedCrossRefGoogle Scholar
  26. Toder R, Zeitler S, Goodfellow PN, Schempp W (1993) Comparative mapping of SRY in the great apes. Chromosome Res 1, 117–120PubMedCrossRefGoogle Scholar
  27. Toder R, Rappold GA, Schiebel K, Schempp W (1995) ANT3 and STS are autosomal in prosimian lemurs: implications for the evolution of the pseudoautosomal region. Hum Genet 95, 22–28PubMedCrossRefGoogle Scholar
  28. Toder R, Gläser B, Schiebel K, Wilcox SA, Rappold G, Graves JAM, Schempp W (1997) Genes located in and near the human pseudoautosomal region are located in the X-Y pairing region in dog and sheep. Chromosome Res 5, 301–306PubMedCrossRefGoogle Scholar
  29. Weber B, Schempp W, Wiesner H (1986) An evolutinary conserved early replicating segment on the sex chromosomes of man and the great apes. Cytogenet Cell Genet 43, 72–78PubMedCrossRefGoogle Scholar
  30. Weber B, Weissenbach J, Schempp W (1987) Conservation of humanderived pseudoautosomal sequences on the sex chromosomes of man and the great apes. Cytogenet Cell Genet 45, 26–29PubMedCrossRefGoogle Scholar
  31. Weber B, Weissenbach J, Schempp W (1988) X-Y crossing over in the chimpanzee. Hum Genet 80, 301–303PubMedCrossRefGoogle Scholar
  32. Yen PH, Marsh B, Allen E, Tsai SP, Ellison J, Connolly L, Neiswanger K, Shapiro LJ (1988) The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell 55, 1123–1135PubMedCrossRefGoogle Scholar
  33. Yen PH, Chai NN, Salido EC (1996) The human autosomal gene DAZLA: testis specificity and a candidate for male infertility. Hum Mol Genet 5, 2013–2017PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 1998

Authors and Affiliations

  • Birgitta Gläser
    • 1
  • Frank Grützner
    • 1
  • Ulrike Willmann
    • 1
  • Roscoe Stanyon
    • 2
  • Norbert Arnold
    • 3
  • Kay Taylor
    • 4
  • Wolfgang Rietschel
    • 5
  • Sylvia Zeitler
    • 1
  • Roland Toder
    • 1
  • Werner Schempp
    • 1
  1. 1.Institute of Human Genetics and AnthropologyUniversity of FreiburgFreiburgGermany
  2. 2.Institute of Physical AnthropologyUniversity of GenoaGenovaItaly
  3. 3.Department of GynecologyUniversity of KielKiel
  4. 4.The Galton LaboratoryUniversity College LondonLondonUK
  5. 5.Zoologisch-Botanischer Garten WilhelmaStuttgartGermany

Personalised recommendations