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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Sex Chromosomes

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Disease relevance of Sex Chromosomes


High impact information on Sex Chromosomes

  • We also report the results of a project at the MRC UK Mouse Genome Centre targeted at chromosome X. The project produced a YAC-based map containing 619 loci (with 121 loci in common with the Whitehead map and 498 additional loci), providing especially dense coverage of this sex chromosome [6].
  • A major locus involved in linear growth has been implicated within the pseudoautosomal region (PAR1) of the human sex chromosomes [7].
  • We have analysed the molecular evolution of the gene CHD, which is present on the Z and W sex chromosomes of birds [8].
  • These results challenge prevailing views of sex chromosome evolution, suggesting that acquisition of autosomal fertility genes is an important process in Y chromosome evolution [9].
  • Our data provide molecular evidence for a major divergence near the pseudoautosomal region, consistent with the hypothesis that hybrid sterility in these species results from abnormal pairing of sex chromosomes during male meiosis [10].

Chemical compound and disease context of Sex Chromosomes


Biological context of Sex Chromosomes


Anatomical context of Sex Chromosomes


Associations of Sex Chromosomes with chemical compounds


Gene context of Sex Chromosomes


Analytical, diagnostic and therapeutic context of Sex Chromosomes


  1. Genetic evidence equating SRY and the testis-determining factor. Berta, P., Hawkins, J.R., Sinclair, A.H., Taylor, A., Griffiths, B.L., Goodfellow, P.N., Fellous, M. Nature (1990) [Pubmed]
  2. High rate of recombination and double crossovers in the mouse pseudoautosomal region during male meiosis. Soriano, P., Keitges, E.A., Schorderet, D.F., Harbers, K., Gartler, S.M., Jaenisch, R. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]
  3. Sex chromosome anomalies in pancreatic endocrine tumors. Missiaglia, E., Moore, P.S., Williamson, J., Lemoine, N.R., Falconi, M., Zamboni, G., Scarpa, A. Int. J. Cancer (2002) [Pubmed]
  4. Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations? Mantovani, V., Dondi, E., Larizza, D., Cisternino, M., Bragliani, M., Viggiani, M., Martinetti, M., Cuccia, M. Eur. J. Hum. Genet. (2002) [Pubmed]
  5. Numerical sex chromosome aberrations in juvenile angiofibromas: genetic evidence for an androgen-dependent tumor? Schick, B., Rippel, C., Brunner, C., Jung, V., Plinkert, P.K., Urbschat, S. Oncol. Rep. (2003) [Pubmed]
  6. A YAC-based physical map of the mouse genome. Nusbaum, C., Slonim, D.K., Harris, K.L., Birren, B.W., Steen, R.G., Stein, L.D., Miller, J., Dietrich, W.F., Nahf, R., Wang, V., Merport, O., Castle, A.B., Husain, Z., Farino, G., Gray, D., Anderson, M.O., Devine, R., Horton, L.T., Ye, W., Wu, X., Kouyoumjian, V., Zemsteva, I.S., Wu, Y., Collymore, A.J., Courtney, D.F., Tam, J., Cadman, M., Haynes, A.R., Heuston, C., Marsland, T., Southwell, A., Trickett, P., Strivens, M.A., Ross, M.T., Makalowski, W., Xu, Y., Boguski, M.S., Carter, N.P., Denny, P., Brown, S.D., Hudson, T.J., Lander, E.S. Nat. Genet. (1999) [Pubmed]
  7. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Muroya, K., Binder, G., Kirsch, S., Winkelmann, M., Nordsiek, G., Heinrich, U., Breuning, M.H., Ranke, M.B., Rosenthal, A., Ogata, T., Rappold, G.A. Nat. Genet. (1997) [Pubmed]
  8. Male-driven evolution of DNA sequences in birds. Ellegren, H., Fridolfsson, A.K. Nat. Genet. (1997) [Pubmed]
  9. The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Saxena, R., Brown, L.G., Hawkins, T., Alagappan, R.K., Skaletsky, H., Reeve, M.P., Reijo, R., Rozen, S., Dinulos, M.B., Disteche, C.M., Page, D.C. Nat. Genet. (1996) [Pubmed]
  10. Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. Rugarli, E.I., Adler, D.A., Borsani, G., Tsuchiya, K., Franco, B., Hauge, X., Disteche, C., Chapman, V., Ballabio, A. Nat. Genet. (1995) [Pubmed]
  11. A protein family immunorelated to a sperm-binding protein and its regulation in human semen. Metafora, S., Lombardi, G., De Rosa, M., Quagliozzi, L., Ravagnan, G., Peluso, G., Abrescia, P. Gamete research. (1987) [Pubmed]
  12. Erythropoietin-resistant anaemia in a predialysis patient with Klinefelter syndrome. Shimizu, Y., Suzukawa, K., Hirano, Y., Seki, M., Hirayama, K., Yoh, K., Hirayama, A., Yamagata, K., Nagase, S., Nagasawa, T., Koyama, A. Nephrology (Carlton, Vic.) (2005) [Pubmed]
  13. Mammalian ZFY sequences exist in reptiles regardless of sex-determining mechanism. Bull, J.J., Hillis, D.M., O'Steen, S. Science (1988) [Pubmed]
  14. Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage. Kim, S.T., Xu, B., Kastan, M.B. Genes Dev. (2002) [Pubmed]
  15. Dosage compensation: making 1X equal 2X. Meller, V.H. Trends Cell Biol. (2000) [Pubmed]
  16. The meiosis-specific Xmr gene product is homologous to the lymphocyte Xlr protein and is a component of the XY body. Calenda, A., Allenet, B., Escalier, D., Bach, J.F., Garchon, H.J. EMBO J. (1994) [Pubmed]
  17. Turner syndrome: the case of the missing sex chromosome. Zinn, A.R., Page, D.C., Fisher, E.M. Trends Genet. (1993) [Pubmed]
  18. The human pseudoautosomal GM-CSF receptor alpha subunit gene is autosomal in mouse. Disteche, C.M., Brannan, C.I., Larsen, A., Adler, D.A., Schorderet, D.F., Gearing, D., Copeland, N.G., Jenkins, N.A., Park, L.S. Nat. Genet. (1992) [Pubmed]
  19. Meiosis-specific protein selectively associated with sex chromosomes of rat pachytene spermatocytes. Smith, A., Benavente, R. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  20. Epithelial stem cell-mediated development of the human respiratory mucosa in SCID mice. Delplanque, A., Coraux, C., Tirouvanziam, R., Khazaal, I., Puchelle, E., Ambros, P., Gaillard, D., Péault, B. J. Cell. Sci. (2000) [Pubmed]
  21. Testicular expression of small ubiquitin-related modifier-1 (SUMO-1) supports multiple roles in spermatogenesis: silencing of sex chromosomes in spermatocytes, spermatid microtubule nucleation, and nuclear reshaping. Vigodner, M., Morris, P.L. Dev. Biol. (2005) [Pubmed]
  22. Biological significance of minisatellites. Singh, L. Electrophoresis (1995) [Pubmed]
  23. Extensive pairing of the XY bivalent in mouse spermatocytes as visualized by whole-mount electron microscopy. Tres, L.L. J. Cell. Sci. (1977) [Pubmed]
  24. Sex chromosomes, testosterone, and the brain. Kates, W.R., Singer, H.S. Neurology (2000) [Pubmed]
  25. Induced dominant lethal mutations and cytotoxic effects in germ cells of Drosophila melanogaster with Trenimon, PDMT and sodium monofluorophosphate. Büchi, R. Genetics (1977) [Pubmed]
  26. Neonatal mice possessing an Sry transgene show a masculinized pattern of progesterone receptor expression in the brain independent of sex chromosome status. Wagner, C.K., Xu, J., Pfau, J.L., Quadros, P.S., De Vries, G.J., Arnold, A.P. Endocrinology (2004) [Pubmed]
  27. Cytologic evidence for three human X-chromosomal segments escaping inactivation. Schempp, W., Meer, B. Hum. Genet. (1983) [Pubmed]
  28. Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. Schneider, K.U., Sabherwal, N., Jantz, K., Röth, R., Muncke, N., Blum, W.F., Cutler, G.B., Rappold, G. Am. J. Hum. Genet. (2005) [Pubmed]
  29. Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL. Ried, K., Rao, E., Schiebel, K., Rappold, G.A. Hum. Mol. Genet. (1998) [Pubmed]
  30. Identification of a new non-major histocompatibility complex genetic locus on chromosome 2 that controls disease severity in collagen-induced arthritis in rats. Gulko, P.S., Kawahito, Y., Remmers, E.F., Reese, V.R., Wang, J., Dracheva, S.V., Ge, L., Longman, R.E., Shepard, J.S., Cannon, G.W., Sawitzke, A.D., Wilder, R.L., Griffiths, M.M. Arthritis Rheum. (1998) [Pubmed]
  31. Meiotic sex chromosome inactivation in male mice with targeted disruptions of Xist. Turner, J.M., Mahadevaiah, S.K., Elliott, D.J., Garchon, H.J., Pehrson, J.R., Jaenisch, R., Burgoyne, P.S. J. Cell. Sci. (2002) [Pubmed]
  32. Disruption of spermatogenesis in mice lacking A-type lamins. Alsheimer, M., Liebe, B., Sewell, L., Stewart, C.L., Scherthan, H., Benavente, R. J. Cell. Sci. (2004) [Pubmed]
  33. Analysis of sex and delta F508 in single amniocytes using primer extension preamplification. Schaaff, F., Wedemann, H., Schwinger, E. Hum. Genet. (1996) [Pubmed]
  34. Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe. Magenis, R.E., Casanova, M., Fellous, M., Olson, S., Sheehy, R. Hum. Genet. (1987) [Pubmed]
  35. Cytological dissection of sex chromosome heterochromatin of Drosophila hydei. Bonaccorsi, S., Pimpinelli, S., Gatti, M. Chromosoma (1981) [Pubmed]
  36. Origin of bone marrow stromal mechanocytes in radiochimeras and heterotopic transplants. Friedenstein, A.J., Ivanov-Smolenski, A.A., Chajlakjan, R.K., Gorskaya, U.F., Kuralesova, A.I., Latzinik, N.W., Gerasimow, U.W. Exp. Hematol. (1978) [Pubmed]
  37. Human fetal/neonatal suppressor activity: relation between OKT phenotypes and sensitivity to prostaglandin E2 in maternal and neonatal lymphocytes. Papadogiannakis, N., Johnsen, S.A., Olding, L.B. American journal of reproductive immunology and microbiology : AJRIM. (1985) [Pubmed]
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