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

Genes, X-Linked

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Disease relevance of Genes, X-Linked


Psychiatry related information on Genes, X-Linked


High impact information on Genes, X-Linked

  • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism [8].
  • We found aberrant expression patterns in nine of ten X-linked genes and hypomethylation of Xist in organs of deceased clones [9].
  • We examined allele-specific expression of the X-linked monoamine oxidase type A (MAOA) gene and the expression of nine additional X-linked genes in nine cloned XX calves [9].
  • IPEX is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance (MIM 304930) [10].
  • The X-linked gene Nap1l2, specifically expressed in neurons, encodes a protein that is highly similar to the nucleosome assembly (NAP) and SET proteins [11].

Chemical compound and disease context of Genes, X-Linked

  • One of these, congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome, results from mutations in the X-linked gene NADH sterol dehydrogenase-like (NSDHL) encoding a sterol dehydrogenase [12].

Biological context of Genes, X-Linked


Anatomical context of Genes, X-Linked

  • Expression of an X-linked gene family (XLR) in late-stage B cells and its alteration by the xid mutation [18].
  • PGK-1 is an X-linked gene expressed constitutively in all somatic cells and premeitotic germ cells [19].
  • The hybrid cells were treated with 5-azacytidine and tested for the reactivation and expression of human X-linked genes [20].
  • Disruption of the X-linked gene encoding NF-kappa B essential modulator (NEMO) produces male embryonic lethality, completely blocks NF-kappa B activation by proinflammatory cytokines, and interferes with the generation and/or persistence of lymphocytes [21].
  • Because it has been shown that alleles of unknown X-linked genes confer a selective advantage to hematopoietic stem cells in vivo in humans and in cats, we also analyzed reciprocal male D2B6F1 and B6D2F1 mice, revealing an X-linked locus regulating the responsiveness of progenitor and stem cells to early-acting factors [22].

Associations of Genes, X-Linked with chemical compounds


Gene context of Genes, X-Linked

  • In XX animals (normally hermaphrodites), sdc-1 mutations cause partial masculinization and elevated levels of X-linked gene expression, an apparent shift of both pathways toward their XO modes of expression [13].
  • DNA hypomethylation can activate Xist expression and silence X-linked genes [28].
  • Dosage compensation in Drosophila occurs by a twofold increase in transcription per copy of X-linked genes in males (XY) compared with females (XX). msl-1 is one of four genes that are essential for dosage compensation in males, and MSL-1 protein is associated specifically with the male X chromosome [29].
  • The human X-linked gene encoding glucose 6-phosphate dehydrogenase (G6PD) is highly polymorphic; more than 300 G6PD variants have been identified [30].
  • Surprisingly, the X-linked gene for human tissue inhibitor of metalloproteinases (TIMP1) is expressed in some but not all inactive X-containing somatic-cell hybrids, suggesting that this gene is either prone to reactivation or variable in its inactivation [31].

Analytical, diagnostic and therapeutic context of Genes, X-Linked


  1. Genetic activity of X chromosomes in pluripotent female teratocarcinoma cells and their differentiated progeny. McBurney, M.W., Strutt, B.J. Cell (1980) [Pubmed]
  2. Preservation of complement-induced lung injury in mice with deficiency of NADPH oxidase. Kubo, H., Morgenstern, D., Quinian, W.M., Ward, P.A., Dinauer, M.C., Doerschuk, C.M. J. Clin. Invest. (1996) [Pubmed]
  3. Genetic linkage heterogeneity in myotubular myopathy. Samson, F., Mesnard, L., Heimburger, M., Hanauer, A., Chevallay, M., Mercadier, J.J., Pelissier, J.F., Feingold, N., Junien, C., Mandel, J.L. Am. J. Hum. Genet. (1995) [Pubmed]
  4. Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Shoichet, S.A., Hoffmann, K., Menzel, C., Trautmann, U., Moser, B., Hoeltzenbein, M., Echenne, B., Partington, M., Van Bokhoven, H., Moraine, C., Fryns, J.P., Chelly, J., Rott, H.D., Ropers, H.H., Kalscheuer, V.M. Am. J. Hum. Genet. (2003) [Pubmed]
  5. Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift type. Nafa, K., Mason, P.J., Hillmen, P., Luzzatto, L., Bessler, M. Blood (1995) [Pubmed]
  6. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Jin, H., May, M., Tranebjaerg, L., Kendall, E., Fontán, G., Jackson, J., Subramony, S.H., Arena, F., Lubs, H., Smith, S., Stevenson, R., Schwartz, C., Vetrie, D. Nat. Genet. (1996) [Pubmed]
  7. X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. Young, J.I., Zoghbi, H.Y. Am. J. Hum. Genet. (2004) [Pubmed]
  8. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I.C., Soderstrom, H., Giros, B., Leboyer, M., Gillberg, C., Bourgeron, T. Nat. Genet. (2003) [Pubmed]
  9. Aberrant patterns of X chromosome inactivation in bovine clones. Xue, F., Tian, X.C., Du, F., Kubota, C., Taneja, M., Dinnyes, A., Dai, Y., Levine, H., Pereira, L.V., Yang, X. Nat. Genet. (2002) [Pubmed]
  10. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Bennett, C.L., Christie, J., Ramsdell, F., Brunkow, M.E., Ferguson, P.J., Whitesell, L., Kelly, T.E., Saulsbury, F.T., Chance, P.F., Ochs, H.D. Nat. Genet. (2001) [Pubmed]
  11. Control of neurulation by the nucleosome assembly protein-1-like 2. Rogner, U.C., Spyropoulos, D.D., Le Novère, N., Changeux, J.P., Avner, P. Nat. Genet. (2000) [Pubmed]
  12. Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts. Cunningham, D., Swartzlander, D., Liyanarachchi, S., Davuluri, R.V., Herman, G.E. J. Lipid Res. (2005) [Pubmed]
  13. sdc-1: a link between sex determination and dosage compensation in C. elegans. Villeneuve, A.M., Meyer, B.J. Cell (1987) [Pubmed]
  14. Methylation of histone H3 at Lys-9 is an early mark on the X chromosome during X inactivation. Heard, E., Rougeulle, C., Arnaud, D., Avner, P., Allis, C.D., Spector, D.L. Cell (2001) [Pubmed]
  15. DNA methylation in transcriptional repression of two differentially expressed X-linked genes, GPC3 and SYBL1. Huber, R., Hansen, R.S., Strazzullo, M., Pengue, G., Mazzarella, R., D'Urso, M., Schlessinger, D., Pilia, G., Gartler, S.M., D'Esposito, M. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  16. Genes controlling gp25/30 cell-surface molecules map to chromosomes X and Y and escape X-inactivation. Dracopoli, N.C., Rettig, W.J., Albino, A.P., Esposito, D., Archidiacono, N., Rocchi, M., Siniscalco, M., Old, L.J. Am. J. Hum. Genet. (1985) [Pubmed]
  17. The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Neufeld, E.F., Liebaers, I., Epstein, C.J., Yatziv, S., Milunsky, A., Migeon, B.R. Am. J. Hum. Genet. (1977) [Pubmed]
  18. Expression of an X-linked gene family (XLR) in late-stage B cells and its alteration by the xid mutation. Cohen, D.I., Steinberg, A.D., Paul, W.E., Davis, M.M. Nature (1985) [Pubmed]
  19. Human testis-specific PGK gene lacks introns and possesses characteristics of a processed gene. McCarrey, J.R., Thomas, K. Nature (1987) [Pubmed]
  20. Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation. Mohandas, T., Sparkes, R.S., Shapiro, L.J. Science (1981) [Pubmed]
  21. NEMO/IKK gamma-deficient mice model incontinentia pigmenti. Schmidt-Supprian, M., Bloch, W., Courtois, G., Addicks, K., Israël, A., Rajewsky, K., Pasparakis, M. Mol. Cell (2000) [Pubmed]
  22. Genetically determined variation in the number of phenotypically defined hematopoietic progenitor and stem cells and in their response to early-acting cytokines. Henckaerts, E., Geiger, H., Langer, J.C., Rebollo, P., Van Zant, G., Snoeck, H.W. Blood (2002) [Pubmed]
  23. Androgen insensitivity in man: evidence for genetic heterogeneity. Amrhein, J.A., Meyer, W.J., Jones, H.W., Migeon, C.J. Proc. Natl. Acad. Sci. U.S.A. (1976) [Pubmed]
  24. Reactivation of XIST in normal fibroblasts and a somatic cell hybrid: abnormal localization of XIST RNA in hybrid cells. Hansen, R.S., Canfield, T.K., Stanek, A.M., Keitges, E.A., Gartler, S.M. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  25. Reevaluation of cytochrome b and flavin adenine dinucleotide in neutrophils from patients with chronic granulomatous disease and description of a family with probable autosomal recessive inheritance of cytochrome b deficiency. Ohno, Y., Buescher, E.S., Roberts, R., Metcalf, J.A., Gallin, J.I. Blood (1986) [Pubmed]
  26. Age-dependent selection against hypoxanthine phosphoribosyl transferase-deficient cells in mouse haematopoiesis. Samuel, K., Clarke, A.R., Ansell, J.D., Hooper, M.L. Development (1993) [Pubmed]
  27. Inactivation of an X-linked transgene in murine extraembryonic and adult tissues. Dandolo, L., Stewart, C.L., Mattei, M.G., Avner, P.R. Development (1993) [Pubmed]
  28. DNA hypomethylation can activate Xist expression and silence X-linked genes. Panning, B., Jaenisch, R. Genes Dev. (1996) [Pubmed]
  29. Sex-specific regulation of the male-specific lethal-1 dosage compensation gene in Drosophila. Palmer, M.J., Richman, R., Richter, L., Kuroda, M.I. Genes Dev. (1994) [Pubmed]
  30. Two point mutations are responsible for G6PD polymorphism in Sardinia. De Vita, G., Alcalay, M., Sampietro, M., Cappelini, M.D., Fiorelli, G., Toniolo, D. Am. J. Hum. Genet. (1989) [Pubmed]
  31. Polymorphic X-chromosome inactivation of the human TIMP1 gene. Anderson, C.L., Brown, C.J. Am. J. Hum. Genet. (1999) [Pubmed]
  32. Inherited deficiency of properdin and C2 in a patient with recurrent bacteremia. Gelfand, E.W., Rao, C.P., Minta, J.O., Ham, T., Purkall, D.B., Ruddy, S. Am. J. Med. (1987) [Pubmed]
  33. The Drosophila zeste locus is nonessential. Goldberg, M.L., Colvin, R.A., Mellin, A.F. Genetics (1989) [Pubmed]
  34. Molecular barr bodies: methylation-specific PCR of the human X-linked gene FMR-1 for diagnosis of Klinefelter syndrome. Pena, S.D., Sturzeneker, R. J. Androl. (2003) [Pubmed]
  35. Is dystrophin always altered in Becker muscular dystrophy patients? Vainzof, M., Passos-Bueno, M.R., Pavanello, R.C., Zatz, M. J. Neurol. Sci. (1995) [Pubmed]
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