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Gene Review

XIST  -  X inactive specific transcript (non...

Homo sapiens

Synonyms: DXS1089, DXS399E, LINC00001, NCRNA00001, SXI1, ...
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Disease relevance of XIST


Psychiatry related information on XIST

  • Thus, the unusual phenotypic features and mental retardation associated with the presence of a r(X) cannot be explained solely on the basis of presence or absence of XIST [6].

High impact information on XIST


Biological context of XIST


Anatomical context of XIST

  • The roles of supernumerical X chromosomes and XIST expression in testicular germ cell tumors [13].
  • XIST RNA remains with the nuclear matrix fraction after removal of chromosomal DNA [14].
  • As XIST transcription is well correlated with inactivation of the X chromosome in female somatic cells and spermatogonia, nonexpression of the locus even when it is present suggests that these chromosomes are transcriptionally active [15].
  • The RNA is widely expressed in adult and fetal tissues and is found in the cytoplasmic fraction of human cells, which is also the case for the H19 non-translated RNA, but differs from the XIST RNA which is found predominantly in the nucleus [16].
  • X-inactivation analysis for the methylation status of the AR gene indicated that, of eight cases with XIST-positive r(X) chromosomes in more than 10% (23%-62%) of lymphocytes (cases 5-12), cases 5-10 had selective X-inactivation, whereas cases 11 and 12 had active X disomy [17].

Associations of XIST with chemical compounds


Other interactions of XIST

  • Our findings indicate that the lack of XCI may be a frequent phenomenon in breast tumorigenesis, which occurs independently of BRCA1 status and XIST expression and is due to the loss of Xi and replication of Xa and not to the reactivation of the native Xi [19].
  • Moreover, in one of the BRCA1wt cell line the restoring of XIST expression using a histone deacetylase inhibitor, did not lead to XCI [19].
  • The inactive X (Xi) differs from its active homologue (Xa) in a number of ways, including increased methylation of CpG islands, replication late in S phase, underacetylation of histone H4 and association with XIST RNA [20].
  • XIST Repression in the Absence of DNMT1 and DNMT3B [21].
  • This pattern of transcriptional regulation of SYCP1 is similar to that observed for XIST in TGCTs [22].

Analytical, diagnostic and therapeutic context of XIST


  1. An ectopic human XIST gene can induce chromosome inactivation in postdifferentiation human HT-1080 cells. Hall, L.L., Byron, M., Sakai, K., Carrel, L., Willard, H.F., Lawrence, J.B. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  2. Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia. McDonell, N., Ramser, J., Francis, F., Vinet, M.C., Rider, S., Sudbrak, R., Riesselman, L., Yaspo, M.L., Reinhardt, R., Monaco, A.P., Ross, F., Kahn, A., Kearney, L., Buckle, V., Chelly, J. Genomics (2000) [Pubmed]
  3. Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype. Turner, C., Dennis, N.R., Skuse, D.H., Jacobs, P.A. Hum. Genet. (2000) [Pubmed]
  4. Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST. Guillén, D.R., Lowichik, A., Schneider, N.R., Cohen, D.S., Garcia, S., Zinn, A.R. Am. J. Med. Genet. (1997) [Pubmed]
  5. Hypomethylation of the XIST gene promoter in prostate cancer. Laner, T., Schulz, W.A., Engers, R., Müller, M., Florl, A.R. Oncol. Res. (2005) [Pubmed]
  6. Phenotype and X inactivation in 45,X/46,X,r(X) cases. Leppig, K.A., Sybert, V.P., Ross, J.L., Cunniff, C., Trejo, T., Raskind, W.H., Disteche, C.M. Am. J. Med. Genet. A (2004) [Pubmed]
  7. BRCA1 supports XIST RNA concentration on the inactive X chromosome. Ganesan, S., Silver, D.P., Greenberg, R.A., Avni, D., Drapkin, R., Miron, A., Mok, S.C., Randrianarison, V., Brodie, S., Salstrom, J., Rasmussen, T.P., Klimke, A., Marrese, C., Marahrens, Y., Deng, C.X., Feunteun, J., Livingston, D.M. Cell (2002) [Pubmed]
  8. 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]
  9. X chromosome inactivation, XIST, and pursuit of the X-inactivation center. Willard, H.F. Cell (1996) [Pubmed]
  10. 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]
  11. Localization of the X inactivation centre on the human X chromosome in Xq13. Brown, C.J., Lafreniere, R.G., Powers, V.E., Sebastio, G., Ballabio, A., Pettigrew, A.L., Ledbetter, D.H., Levy, E., Craig, I.W., Willard, H.F. Nature (1991) [Pubmed]
  12. Involvement of the X chromosome in non-Hodgkin lymphoma. McDonald, H.L., Gascoyne, R.D., Horsman, D., Brown, C.J. Genes Chromosomes Cancer (2000) [Pubmed]
  13. The roles of supernumerical X chromosomes and XIST expression in testicular germ cell tumors. Kawakami, T., Okamoto, K., Sugihara, H., Hattori, T., Reeve, A.E., Ogawa, O., Okada, Y. J. Urol. (2003) [Pubmed]
  14. XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure. Clemson, C.M., McNeil, J.A., Willard, H.F., Lawrence, J.B. J. Cell Biol. (1996) [Pubmed]
  15. The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation. Migeon, B.R., Luo, S., Jani, M., Jeppesen, P. Am. J. Hum. Genet. (1994) [Pubmed]
  16. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Wevrick, R., Kerns, J.A., Francke, U. Hum. Mol. Genet. (1994) [Pubmed]
  17. Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development. Matsuo, M., Muroya, K., Adachi, M., Tachibana, K., Asakura, Y., Nakagomi, Y., Hanaki, K., Yokoya, S., Yoshizawa, A., Igarashi, Y., Hanew, K., Matsuo, N., Ogata, T. Hum. Genet. (2000) [Pubmed]
  18. 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]
  19. Loss of the inactive X chromosome and replication of the active X in BRCA1-defective and wild-type breast cancer cells. Sirchia, S.M., Ramoscelli, L., Grati, F.R., Barbera, F., Coradini, D., Rossella, F., Porta, G., Lesma, E., Ruggeri, A., Radice, P., Simoni, G., Miozzo, M. Cancer Res. (2005) [Pubmed]
  20. H4 acetylation, XIST RNA and replication timing are coincident and define x;autosome boundaries in two abnormal X chromosomes. Keohane, A.M., Barlow, A.L., Waters, J., Bourn, D., Turner, B.M. Hum. Mol. Genet. (1999) [Pubmed]
  21. XIST Repression in the Absence of DNMT1 and DNMT3B. Vasques, L.R., Stabellini, R., Xue, F., Tian, X.C., Soukoyan, M., Pereira, L.V. DNA Res. (2005) [Pubmed]
  22. Distinctive epigenetic phenotype of cancer testis antigen genes among seminomatous and nonseminomatous testicular germ-cell tumors. Zhang, C., Kawakami, T., Okada, Y., Okamoto, K. Genes Chromosomes Cancer (2005) [Pubmed]
  23. Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR. Weinhäusel, A., Haas, O.A. Hum. Genet. (2001) [Pubmed]
  24. Ring chromosome X in a child with manifestations of Kabuki syndrome. McGinniss, M.J., Brown, D.H., Burke, L.W., Mascarello, J.T., Jones, M.C. Am. J. Med. Genet. (1997) [Pubmed]
  25. Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes. Migeon, B.R., Luo, S., Stasiowski, B.A., Jani, M., Axelman, J., Van Dyke, D.L., Weiss, L., Jacobs, P.A., Yang-Feng, T.L., Wiley, J.E. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
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