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MeSH Review

Chromosomes, Human, X

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Disease relevance of Chromosomes, Human, X


High impact information on Chromosomes, Human, X


Biological context of Chromosomes, Human, X


Anatomical context of Chromosomes, Human, X


Associations of Chromosomes, Human, X with chemical compounds

  • Differential expression of steroid sulphatase locus on active and inactive human X chromosome [20].
  • It has been shown that 5-azacytidine (5-Aza-Cyd) can reactivate genes on the inactive human X chromosome [21].
  • Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity [22].
  • Among the genes recently identified at the tip of the long arm of the human X chromosome, a novel gene, C1, encodes a protein that appears to represent a newly discovered member of the group of signaling proteins involved in regulation of the small GTP binding proteins of the ras superfamily [23].
  • Moreover, the human isozymes of hlucose-6-phosphate dehydrogenase (EC; D-glucose 6-phosphate:NADP 1-oxidoreductase) and phosphoglycerate kinase (EC;ATP:3-phospho-D-glycerate 1-phosphotransferase), whose genes have been linked with the HPRT gene to the long are of the human X chromosome, were also absent [24].

Gene context of Chromosomes, Human, X


Analytical, diagnostic and therapeutic context of Chromosomes, Human, X


  1. Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage. Readhead, C., Schneider, A., Griffiths, I., Nave, K.A. Neuron (1994) [Pubmed]
  2. Nonsyndromic X-linked mental retardation: where are the missing mutations? Ropers, H.H., Hoeltzenbein, M., Kalscheuer, V., Yntema, H., Hamel, B., Fryns, J.P., Chelly, J., Partington, M., Gecz, J., Moraine, C. Trends Genet. (2003) [Pubmed]
  3. A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom. Knight, S.J., Ritchie, R.J., Chakrabarti, L., Cross, G., Taylor, G.R., Mueller, R.F., Hurst, J., Paterson, J., Yates, J.R., Dow, D.J., Davies, K.E. Am. J. Hum. Genet. (1996) [Pubmed]
  4. Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. Mohandas, T., Shapiro, L.J., Sparkes, R.S., Sparkes, M.C. Proc. Natl. Acad. Sci. U.S.A. (1979) [Pubmed]
  5. Studies of the locus for androgen receptor: localization on the human X chromosome and evidence for homology with the Tfm locus in the mouse. Migeon, B.R., Brown, T.R., Axelman, J., Migeon, C.J. Proc. Natl. Acad. Sci. U.S.A. (1981) [Pubmed]
  6. Differentially methylated forms of histone H3 show unique association patterns with inactive human X chromosomes. Boggs, B.A., Cheung, P., Heard, E., Spector, D.L., Chinault, A.C., Allis, C.D. Nat. Genet. (2002) [Pubmed]
  7. The candidate spermatogenesis gene RBMY has a homologue on the human X chromosome. Delbridge, M.L., Lingenfelter, P.A., Disteche, C.M., Graves, J.A. Nat. Genet. (1999) [Pubmed]
  8. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Eichler, E.E., Holden, J.J., Popovich, B.W., Reiss, A.L., Snow, K., Thibodeau, S.N., Richards, C.S., Ward, P.A., Nelson, D.L. Nat. Genet. (1994) [Pubmed]
  9. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Knight, S.J., Flannery, A.V., Hirst, M.C., Campbell, L., Christodoulou, Z., Phelps, S.R., Pointon, J., Middleton-Price, H.R., Barnicoat, A., Pembrey, M.E. Cell (1993) [Pubmed]
  10. ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation. Schneider-Gädicke, A., Beer-Romero, P., Brown, L.G., Nussbaum, R., Page, D.C. Cell (1989) [Pubmed]
  11. Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Lubahn, D.B., Joseph, D.R., Sullivan, P.M., Willard, H.F., French, F.S., Wilson, E.M. Science (1988) [Pubmed]
  12. Investigation of chromosome-mediated gene transfer using the HPRT region of the human X chromosome as a model. Pritchard, C.A., Goodfellow, P.N. Genes Dev. (1987) [Pubmed]
  13. A glyceraldehyde-3-phosphate dehydrogenase pseudogene on the short arm of the human X chromosomes defines a multigene family. Benham, F.J., Hodgkinson, S., Davies, K.E. EMBO J. (1984) [Pubmed]
  14. Expression of the G6PD locus on the human X chromosome is associated with demethylation of three CpG islands within 100 kb of DNA. Toniolo, D., Martini, G., Migeon, B.R., Dono, R. EMBO J. (1988) [Pubmed]
  15. Molecular cloning, primary structure and expression of the human X linked A1S9 gene cDNA which complements the ts A1S9 mouse L cell defect in DNA replication. Zacksenhaus, E., Sheinin, R. EMBO J. (1990) [Pubmed]
  16. Polymerase chain reaction-aided genomic sequencing of an X chromosome-linked CpG island: methylation patterns suggest clonal inheritance, CpG site autonomy, and an explanation of activity state stability. Pfeifer, G.P., Steigerwald, S.D., Hansen, R.S., Gartler, S.M., Riggs, A.D. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  17. Derivatives of somatic cell hybrids which carry the human gene locus for nephrogenic diabetes insipidus (NDI) express functional vasopressin renal V2-type receptors. Jans, D.A., van Oost, B.A., Ropers, H.H., Fahrenholz, F. J. Biol. Chem. (1990) [Pubmed]
  18. Both cell fusion and transdifferentiation account for the transformation of human peripheral blood CD34-positive cells into cardiomyocytes in vivo. Zhang, S., Wang, D., Estrov, Z., Raj, S., Willerson, J.T., Yeh, E.T. Circulation (2004) [Pubmed]
  19. XIST expression is repressed when X inactivation is reversed in human placental cells: a model for study of XIST regulation. Luo, S., Torchia, B.S., Migeon, B.R. Somat. Cell Mol. Genet. (1995) [Pubmed]
  20. Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Migeon, B.R., Shapiro, L.J., Norum, R.A., Mohandas, T., Axelman, J., Dabora, R.L. Nature (1982) [Pubmed]
  21. Transformation with DNA from 5-azacytidine-reactivated X chromosomes. Venolia, L., Gartler, S.M., Wassman, E.R., Yen, P., Mohandas, T., Shapiro, L.J. Proc. Natl. Acad. Sci. U.S.A. (1982) [Pubmed]
  22. Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity. Meyer, W.J., Migeon, B.R., Migeon, C.J. Proc. Natl. Acad. Sci. U.S.A. (1975) [Pubmed]
  23. An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells. Tribioli, C., Droetto, S., Bione, S., Cesareni, G., Torrisi, M.R., Lotti, L.V., Lanfrancone, L., Toniolo, D., Pelicci, P. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  24. Transfer of the human gene for hypoxanthine-guanine phosphoribosyltransferase via isolated human metaphase chromosomes into mouse L-cells. Willecke, K., Ruddle, F.H. Proc. Natl. Acad. Sci. U.S.A. (1975) [Pubmed]
  25. Frequency of reactivation and variability in expression of X-linked enzyme loci. Mohandas, T., Sparkes, R.S., Bishop, D.F., Desnick, R.J., Shapiro, L.J. Am. J. Hum. Genet. (1984) [Pubmed]
  26. Physical linkage of a GABAA receptor subunit gene to the DXS374 locus in human Xq28. Bell, M.V., Bloomfield, J., McKinley, M., Patterson, M.N., Darlison, M.G., Barnard, E.A., Davies, K.E. Am. J. Hum. Genet. (1989) [Pubmed]
  27. The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter. Ritchie, R.J., Knight, S.J., Hirst, M.C., Grewal, P.K., Bobrow, M., Cross, G.S., Davies, K.E. Hum. Mol. Genet. (1994) [Pubmed]
  28. Epigenetic silencing of TCEAL7 (Bex4) in ovarian cancer. Chien, J., Staub, J., Avula, R., Zhang, H., Liu, W., Hartmann, L.C., Kaufmann, S.H., Smith, D.I., Shridhar, V. Oncogene (2005) [Pubmed]
  29. Reactivation of an inactive human X chromosome introduced into mouse embryonal carcinoma cells by microcell fusion with persistent expression of XIST. Yoshida, I., Nishita, Y., Mohandas, T.K., Takagi, N. Exp. Cell Res. (1997) [Pubmed]
  30. Isolation and characterization of XE169, a novel human gene that escapes X-inactivation. Wu, J., Ellison, J., Salido, E., Yen, P., Mohandas, T., Shapiro, L.J. Hum. Mol. Genet. (1994) [Pubmed]
  31. Linkage of a gene for neural cell adhesion molecule, L1 (CamL1) to the Rsvp region of the mouse X chromosome. Chapman, V.M., Keitz, B.T., Stephenson, D.A., Mullins, L.J., Moos, M., Schachner, M. Genomics (1990) [Pubmed]
  32. Human gamma X satellite DNA: an X chromosome specific centromeric DNA sequence. Lee, C., Li, X., Jabs, E.W., Court, D., Lin, C.C. Chromosoma (1995) [Pubmed]
  33. Identification and phylogeny of novel human endogenous retroviral sequences belonging to the HERV-W family on the human X chromosome. Kim, H., Crow, T.J. Arch. Virol. (1999) [Pubmed]
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