XIST (gene)

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X (inactive)-specific transcript
Identifiers
Symbols XIST ; XCE; XIC; SXI1; DKFZp779P0129; DXS1089; DXS399E; swd66
External IDs Template:OMIM5
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a 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]

References

  1. 1.0 1.1 "Entrez Gene: XIST X (inactive)-specific transcript".

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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