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

X Chromosome

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Disease relevance of X Chromosome


Psychiatry related information on X Chromosome


High impact information on X Chromosome

  • The mammalian Y chromosome has unique characteristics compared with the autosomes or X chromosomes [11].
  • Imprinting of these three genes, Xlr3b, Xlr4b and Xlr4c, is independent of X-chromosome inactivation and has a dynamic and complex pattern of tissue and stage specificity [12].
  • The him-8 gene is essential for proper meiotic segregation of the X chromosomes in C. elegans [13].
  • H3.3 replacement occurred prominently at sites of abundant RNA polymerase II and methylated H3 Lys4 throughout the genome and was enhanced on the dosage-compensated male X chromosome [14].
  • DNA methylation is an important component in mammalian gene silencing for normal processes such as gene imprinting and X-chromosome inactivation, and aberrant CpG island hypermethylation at tumor-suppressor promoters is associated with transcriptional silencing and loss of gene function in cancer [15].

Chemical compound and disease context of X Chromosome


Biological context of X Chromosome

  • We genetically mapped C4 to position 35.66 on the X chromosome and cytogenetically localized it to the polytene chromosome band interval 10C2-10D4 [21].
  • Before the onset of X inactivation, Tsix is expressed from both X chromosomes [22].
  • We localized PIG-A to the X chromosome, which accounts for expression of the recessive phenotype of the somatic mutation and the fact that the same one of the multiple biosynthetic steps is affected in all patients so far characterized [23].
  • This consists of repeats of the tetranucleotide GATA that are concentrated in the sex-determining region of the Y chromosome of mouse, on the W chromosome of snakes, and in the proximal region of the X chromosome of D. melanogaster, and it appears to be transcribed in a sex-specific and developmentally regulated manner [24].
  • The XIST gene is unique among X-linked genes in being expressed exclusively from the inactive X chromosome [25].

Anatomical context of X Chromosome


Associations of X Chromosome with chemical compounds

  • Here we report a rare cytosine to guanine mutation in the XIST minimal promoter that underlies both epigenetic and functional differences between the two X chromosomes in nine females from two unrelated families [30].
  • H4 acetylated at lysine 16 is found at numerous sites along the transcriptionally hyperactive X chromosome in male larvae, but not in male autosomes or any chromosome in female cells [31].
  • The nucleotide 5-methylcytosine is involved in processes crucial in mammalian development, such as X-chromosome inactivation and gene imprinting [32].
  • The recently identified gene for an erythroid-specific 5-aminolevulinate synthase isoenzyme and its localization to the X chromosome make it likely that one or more defects in this gene underlie the anemia [33].
  • Antibiotics containing trimethoprim and the fragile X chromosome [34].

Gene context of X Chromosome

  • Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation [35].
  • Expression of msl-2 causes assembly of dosage compensation regulators on the X chromosomes and female lethality in Drosophila [36].
  • The multisubunit MSL dosage compensation complex binds to hundreds of sites along the Drosophila single male X chromosome, mediating its hypertranscription [37].
  • We conclude that Tsix regulates Xist in cis and determines X chromosome choice without affecting silencing [38].
  • We have found that in females, Sxl functions to prevent mle from binding to the two X chromosomes [39].

Analytical, diagnostic and therapeutic context of X Chromosome


  1. A murine model of Menkes disease reveals a physiological function of metallothionein. Kelly, E.J., Palmiter, R.D. Nat. Genet. (1996) [Pubmed]
  2. A 43 kilobase cosmid P transposon rescues the fs(1)K10 morphogenetic locus and three adjacent Drosophila developmental mutants. Haenlin, M., Steller, H., Pirrotta, V., Mohier, E. Cell (1985) [Pubmed]
  3. Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy. Bodrug, S.E., Ray, P.N., Gonzalez, I.L., Schmickel, R.D., Sylvester, J.E., Worton, R.G. Science (1987) [Pubmed]
  4. Chromosomal location of human metallothionein genes: implications for Menkes' disease. Schmidt, C.J., Hamer, D.H., McBride, O.W. Science (1984) [Pubmed]
  5. H-2-linked resistance to mastocytoma in male mice: immune response to a histocompatibility antigen on the X chromosome. Kwak, L.W., Kucuk, O., Melvold, R.W., Williams, R.M. Science (1983) [Pubmed]
  6. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Gu, Y., Shen, Y., Gibbs, R.A., Nelson, D.L. Nat. Genet. (1996) [Pubmed]
  7. X-chromosome effects on female brain: a magnetic resonance imaging study of Turner's syndrome. Murphy, D.G., DeCarli, C., Daly, E., Haxby, J.V., Allen, G., White, B.J., McIntosh, A.R., Powell, C.M., Horwitz, B., Rapoport, S.I. Lancet (1993) [Pubmed]
  8. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Amir, R.E., Van den Veyver, I.B., Schultz, R., Malicki, D.M., Tran, C.Q., Dahle, E.J., Philippi, A., Timar, L., Percy, A.K., Motil, K.J., Lichtarge, O., Smith, E.O., Glaze, D.G., Zoghbi, H.Y. Ann. Neurol. (2000) [Pubmed]
  9. No evidence of increased risk for schizophrenia or bipolar affective disorder in persons with aneuploidies of the sex chromosomes. Mors, O., Mortensen, P.B., Ewald, H. Psychological medicine. (2001) [Pubmed]
  10. Genetic effects and sexual dimorphism in tyrosine hydroxylase activity in two mouse strains and their reciprocal F1 hybrids. Vadász, C., Baker, H., Fink, S.J., Reis, D.J. J. Neurogenet. (1985) [Pubmed]
  11. Comparative analysis of chimpanzee and human Y chromosomes unveils complex evolutionary pathway. Kuroki, Y., Toyoda, A., Noguchi, H., Taylor, T.D., Itoh, T., Kim, D.S., Kim, D.W., Choi, S.H., Kim, I.C., Choi, H.H., Kim, Y.S., Satta, Y., Saitou, N., Yamada, T., Morishita, S., Hattori, M., Sakaki, Y., Park, H.S., Fujiyama, A. Nat. Genet. (2006) [Pubmed]
  12. Identification of a cluster of X-linked imprinted genes in mice. Raefski, A.S., O'Neill, M.J. Nat. Genet. (2005) [Pubmed]
  13. HIM-8 binds to the X chromosome pairing center and mediates chromosome-specific meiotic synapsis. Phillips, C.M., Wong, C., Bhalla, N., Carlton, P.M., Weiser, P., Meneely, P.M., Dernburg, A.F. Cell (2005) [Pubmed]
  14. Genome-scale profiling of histone H3.3 replacement patterns. Mito, Y., Henikoff, J.G., Henikoff, S. Nat. Genet. (2005) [Pubmed]
  15. Short double-stranded RNA induces transcriptional gene silencing in human cancer cells in the absence of DNA methylation. Ting, A.H., Schuebel, K.E., Herman, J.G., Baylin, S.B. Nat. Genet. (2005) [Pubmed]
  16. Brain morphology in Klinefelter syndrome: extra X chromosome and testosterone supplementation. Patwardhan, A.J., Eliez, S., Bender, B., Linden, M.G., Reiss, A.L. Neurology (2000) [Pubmed]
  17. Nonhistone nuclear proteins specific to certain mouse embryonal carcinoma clones having an inactive X chromosome. Abe, K., Takagi, N., Sasaki, M. Exp. Cell Res. (1988) [Pubmed]
  18. Characterization of the flamenco region of the Drosophila melanogaster genome. Robert, V., Prud'homme, N., Kim, A., Bucheton, A., Pélisson, A. Genetics (2001) [Pubmed]
  19. Dopamine function in Lesch-Nyhan disease. Nyhan, W.L. Environ. Health Perspect. (2000) [Pubmed]
  20. Simultaneous expression of the rare and common fragile sites on the X chromosome. Zaslav, A.L., Brown, W.T. Clin. Genet. (1991) [Pubmed]
  21. Genetic and biochemical characterization of mutants at an RNA polymerase II locus in D. melanogaster. Greenleaf, A.L., Weeks, J.R., Voelker, R.A., Ohnishi, S., Dickson, B. Cell (1980) [Pubmed]
  22. Tsix, a gene antisense to Xist at the X-inactivation centre. Lee, J.T., Davidow, L.S., Warshawsky, D. Nat. Genet. (1999) [Pubmed]
  23. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Takeda, J., Miyata, T., Kawagoe, K., Iida, Y., Endo, Y., Fujita, T., Takahashi, M., Kitani, T., Kinoshita, T. Cell (1993) [Pubmed]
  24. The conserved nucleotide sequences of Bkm, which define Sxr in the mouse, are transcribed. Singh, L., Phillips, C., Jones, K.W. Cell (1984) [Pubmed]
  25. The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Brown, C.J., Hendrich, B.D., Rupert, J.L., Lafrenière, R.G., Xing, Y., Lawrence, J., Willard, H.F. Cell (1992) [Pubmed]
  26. Expression of Xist in mouse germ cells correlates with X-chromosome inactivation. McCarrey, J.R., Dilworth, D.D. Nat. Genet. (1992) [Pubmed]
  27. Imprinting and X chromosome counting mechanisms determine Xist expression in early mouse development. Kay, G.F., Barton, S.C., Surani, M.A., Rastan, S. Cell (1994) [Pubmed]
  28. 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]
  29. Differential expression of alpha-fetoprotein genes on the inactive X chromosome in extraembryonic and somatic tissues of a transgenic mouse line. Krumlauf, R., Chapman, V.M., Hammer, R.E., Brinster, R., Tilghman, S.M. Nature (1986) [Pubmed]
  30. A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Plenge, R.M., Hendrich, B.D., Schwartz, C., Arena, J.F., Naumova, A., Sapienza, C., Winter, R.M., Willard, H.F. Nat. Genet. (1997) [Pubmed]
  31. Histone H4 isoforms acetylated at specific lysine residues define individual chromosomes and chromatin domains in Drosophila polytene nuclei. Turner, B.M., Birley, A.J., Lavender, J. Cell (1992) [Pubmed]
  32. Role for DNA methylation in the control of cell type specific maspin expression. Futscher, B.W., Oshiro, M.M., Wozniak, R.J., Holtan, N., Hanigan, C.L., Duan, H., Domann, F.E. Nat. Genet. (2002) [Pubmed]
  33. X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. Cox, T.C., Bottomley, S.S., Wiley, J.S., Bawden, M.J., Matthews, C.S., May, B.K. N. Engl. J. Med. (1994) [Pubmed]
  34. Antibiotics containing trimethoprim and the fragile X chromosome. Hecht, F., Glover, T.W. N. Engl. J. Med. (1983) [Pubmed]
  35. Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation. Kay, G.F., Penny, G.D., Patel, D., Ashworth, A., Brockdorff, N., Rastan, S. Cell (1993) [Pubmed]
  36. Expression of msl-2 causes assembly of dosage compensation regulators on the X chromosomes and female lethality in Drosophila. Kelley, R.L., Solovyeva, I., Lyman, L.M., Richman, R., Solovyev, V., Kuroda, M.I. Cell (1995) [Pubmed]
  37. Epigenetic spreading of the Drosophila dosage compensation complex from roX RNA genes into flanking chromatin. Kelley, R.L., Meller, V.H., Gordadze, P.R., Roman, G., Davis, R.L., Kuroda, M.I. Cell (1999) [Pubmed]
  38. Targeted mutagenesis of Tsix leads to nonrandom X inactivation. Lee, J.T., Lu, N. Cell (1999) [Pubmed]
  39. Regulation of the sex-specific binding of the maleless dosage compensation protein to the male X chromosome in Drosophila. Gorman, M., Kuroda, M.I., Baker, B.S. Cell (1993) [Pubmed]
  40. Two structural genes on different chromosomes are required for encoding the major subunit of human red cell glucose-6-phosphate dehydrogenase. Kanno, H., Huang, I.Y., Kan, Y.W., Yoshida, A. Cell (1989) [Pubmed]
  41. A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Wooster, R., Mangion, J., Eeles, R., Smith, S., Dowsett, M., Averill, D., Barrett-Lee, P., Easton, D.F., Ponder, B.A., Stratton, M.R. Nat. Genet. (1992) [Pubmed]
  42. From sequence to chromosome: the tip of the X chromosome of D. melanogaster. Benos, P.V., Gatt, M.K., Ashburner, M., Murphy, L., Harris, D., Barrell, B., Ferraz, C., Vidal, S., Brun, C., Demailles, J., Cadieu, E., Dreano, S., Gloux, S., Lelaure, V., Mottier, S., Galibert, F., Borkova, D., Minana, B., Kafatos, F.C., Louis, C., Sidén-Kiamos, I., Bolshakov, S., Papagiannakis, G., Spanos, L., Cox, S., Madueño, E., de Pablos, B., Modolell, J., Peter, A., Schöttler, P., Werner, M., Mourkioti, F., Beinert, N., Dowe, G., Schäfer, U., Jäckle, H., Bucheton, A., Callister, D.M., Campbell, L.A., Darlamitsou, A., Henderson, N.S., McMillan, P.J., Salles, C., Tait, E.A., Valenti, P., Saunder, R.D., Glover, D.M. Science (2000) [Pubmed]
  43. Molecular analysis of the locus elav in Drosophila melanogaster: a gene whose embryonic expression is neural specific. Campos, A.R., Rosen, D.R., Robinow, S.N., White, K. EMBO J. (1987) [Pubmed]
  44. Steroid sulfatase gene in XX males. Mohandas, T.K., Stern, H.J., Meeker, C.A., Passage, M.B., Müller, U., Page, D.C., Yen, P.H., Shapiro, L.J. Am. J. Hum. Genet. (1990) [Pubmed]
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