XIST (gene)

XIST (gene)

X (inactive)-specific transcript, also known as XIST, is a human gene.cite web | title = Entrez Gene: XIST X (inactive)-specific transcript| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7503| accessdate = ]

Function

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 (see dosage compensation). 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.

Disease linkage

Mutations in the XIST promoter cause familial skewed X inactivation.

References

Further reading

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

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