XIST (gene)

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X (inactive)-specific transcript
Identifiers
Symbol(s) XIST; XCE; XIC; SXI1; DKFZp779P0129; DXS1089; DXS399E; swd66
External IDs OMIM: 314670
Orthologs
Human Mouse
Entrez 7503 n/a



Pubmed search [1] n/a

X (inactive)-specific transcript, also known as XIST, is a human gene.[1]

X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIST gene is expressed exclusively from the XIC of the inactive X chromosome. The transcript is spliced but apparently does not encode a protein. The transcript remains in the nucleus where it coats the inactive X chromosome. Alternatively spliced transcript variants have been identified, but their full length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation.[1]

[edit] References

  1. ^ a b Entrez Gene: XIST X (inactive)-specific transcript.

[edit] Further reading

  • Brown CJ, Hendrich BD, Rupert JL, et al. (1992). "The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus.". Cell 71 (3): 527-42. PMID 1423611. 
  • Brown CJ, Ballabio A, Rupert JL, et al. (1991). "A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome.". Nature 349 (6304): 38-44. doi:10.1038/349038a0. PMID 1985261. 
  • Brown CJ, Lafreniere RG, Powers VE, et al. (1991). "Localization of the X inactivation centre on the human X chromosome in Xq13.". Nature 349 (6304): 82-4. doi:10.1038/349082a0. PMID 1985270. 
  • Brockdorff N, Ashworth A, Kay GF, et al. (1991). "Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome.". Nature 351 (6324): 329-31. doi:10.1038/351329a0. PMID 2034279. 
  • Clemson CM, McNeil JA, Willard HF, Lawrence JB (1996). "XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure.". J. Cell Biol. 132 (3): 259-75. PMID 8636206. 
  • Herzing LB, Romer JT, Horn JM, Ashworth A (1997). "Xist has properties of the X-chromosome inactivation centre.". Nature 386 (6622): 272-5. doi:10.1038/386272a0. PMID 9069284. 
  • Hendrich BD, Plenge RM, Willard HF (1997). "Identification and characterization of the human XIST gene promoter: implications for models of X chromosome inactivation.". Nucleic Acids Res. 25 (13): 2661-71. PMID 9185579. 
  • Plenge RM, Hendrich BD, Schwartz C, et al. (1997). "A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation.". Nat. Genet. 17 (3): 353-6. doi:10.1038/ng1197-353. PMID 9354806. 
  • Hong YK, Ontiveros SD, Strauss WM (2000). "A revision of the human XIST gene organization and structural comparison with mouse Xist.". Mamm. Genome 11 (3): 220-4. PMID 10723727. 
  • Hall LL, Byron M, Sakai K, et al. (2002). "An ectopic human XIST gene can induce chromosome inactivation in postdifferentiation human HT-1080 cells.". Proc. Natl. Acad. Sci. U.S.A. 99 (13): 8677-82. doi:10.1073/pnas.132468999. PMID 12072569. 
  • Ganesan S, Silver DP, Greenberg RA, et al. (2002). "BRCA1 supports XIST RNA concentration on the inactive X chromosome.". Cell 111 (3): 393-405. PMID 12419249. 
  • Kawakami T, Okamoto K, Sugihara H, et al. (2003). "The roles of supernumerical X chromosomes and XIST expression in testicular germ cell tumors.". J. Urol. 169 (4): 1546-52. doi:10.1097/01.ju.0000044927.23323.5a. PMID 12629412. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039. 
  • Ganesan S, Silver DP, Drapkin R, et al. (2004). "Association of BRCA1 with the inactive X chromosome and XIST RNA.". Philos. Trans. R. Soc. Lond., B, Biol. Sci. 359 (1441): 123-8. doi:10.1098/rstb.2003.1371. PMID 15065664. 
  • Pugacheva EM, Tiwari VK, Abdullaev Z, et al. (2005). "Familial cases of point mutations in the XIST promoter reveal a correlation between CTCF binding and pre-emptive choices of X chromosome inactivation.". Hum. Mol. Genet. 14 (7): 953-65. doi:10.1093/hmg/ddi089. PMID 15731119. 
  • Vasques LR, Stabellini R, Xue F, et al. (2007). "XIST repression in the absence of DNMT1 and DNMT3B.". DNA Res. 12 (5): 373-8. doi:10.1093/dnares/dsi013. PMID 16769694. 
  • Cohen HR, Panning B (2007). "XIST RNA exhibits nuclear retention and exhibits reduced association with the export factor TAP/NXF1.". Chromosoma 116 (4): 373-83. doi:10.1007/s00412-007-0100-1. PMID 17333237. 
  • Chow JC, Hall LL, Baldry SE, et al. (2007). "Inducible XIST-dependent X-chromosome inactivation in human somatic cells is reversible.". Proc. Natl. Acad. Sci. U.S.A. 104 (24): 10104-9. doi:10.1073/pnas.0610946104. PMID 17537922. 
  • Vincent-Salomon A, Ganem-Elbaz C, Manié E, et al. (2007). "X inactive-specific transcript RNA coating and genetic instability of the X chromosome in BRCA1 breast tumors.". Cancer Res. 67 (11): 5134-40. doi:10.1158/0008-5472.CAN-07-0465. PMID 17545591. 
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