Developer site: The content shown here is test data.

MyEClinic
MyEClinic
Health Dictionary AI Health Chat Find an Online Doctor
A serene Zen garden with raked sand and smooth stones, symbolising clarity and calm

Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

Back to skin conditions

XIST (gene)

Introduction

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

References

  1. ↑ 1.0 1.1 “Entrez Gene: XIST X (inactive)-specific transcript”.
Further reading

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.

Template:WikiDoc Sources