X‐Chromosome Inactivation

In female mammals, one of the X-chromosomes is transcriptionally silenced by heterochromatin formation to bring about equal expression of X-linked genes in XX females and XY males.

Keywords: X-chromosome; inactivation; XIST; methylation; replication

 References
    Brown CJ, Ballabio A, Rupert JL et al. (1991) A gene from the region of the human inactivation center is expressed exclusively from the inactive X chromosome. Nature 349: 38–44.
    Carrel L and Willard HF (1998) Counting on Xist. Nature Genetics 19: 211–212.
    Carrel L, Cottle AA, Goglin KC and Willard HF (1999) A first-generation X-inactivation profile of the human X chromosome. Proceedings of the National Academy of Sciences of the USA 96: 14440–14444.
    Chevret E, Volpi EV and Sheer D (2000) Mini review: Form and function in the human interphase chromosome. Cytogenetics and Cell Genetics 90: 13–21.
    Chureau C, Prissette M, Bourdet A et al. (2002) Comparative sequence analysis of the X-inactivation center region in mouse, human and bovine. Genome Research 12: 894–908.
    Clerc P and Avner P (1998) Role of the region 3¢ to Xist exon 6 in the counting process of X-chromosome inactivation. Nature Genetics 19: 249–253.
    Costanzi C and Pehrson JR (1998) Histone macroH2Al is concentrated in the inactive X chromosome of female mammals. Nature 393: 599–601.
    Disteche CM, Fillipova GN and Tsuchiya KD (2002) Escape from X inactivation. Cytogenetic Genome Research 99: 36–43.
    Ganesan S, Silver DP, Greenberg RA et al. (2002) BRCA1 supports XIST RNA concentration on the inactive X chromosome. Cell 111: 393–405.
    Gartler SM, Dyer KA and Goldman MA (1992) Mammalian X chromosome inactivation. Molecular Genetic Medicine 2: 121–160.
    Graves JAM (1996) Mammals that break the rules: genetics of marsupials and monotremes. Annual Review of Genetics 30: 233–260.
    Hansen RS, Canfield TK, Stanek AM, Keitges EA and Gartler SM (1998) Reactivation of XIST in normal fibroblasts and a somatic cell hybrid: abnormal localization of XIST RNA in hybrid cells. Proceedings of the National Academy of Sciences of the USA 95: 5133–5138.
    Hansen RS, Stoger R, Wijmenga C et al. (2000) Escape from inactivation in ICF syndrome: evidence for advanced replication time as a major determinant. Human Molecular Genetics 9: 2575–2587.
    Heard E, Rougeulle C, Arnaud D et al. (2001) Methylation of histone H3 at Lys-9 is an early mark on the X chromosome during X-inactivation. Cell 107: 727–738.
    Huynh KD and Lee JT (2003) Inheritance of a pre-inactivated paternal X chromosome in early mouse embryos. Nature 426: 857–862.
    Jenuwein T and Allis CD (2001) Translating the histone code. Science 293: 1074–1080.
    Keohane AM, Lavender JS, O'Neill LP and Turner BM (1998) Histone acetylation and X inactivation. Developmental Genetics 22: 65–73.
    Lee JT, Davidow LS and Warshawsky D (1999) Tsix, a gene antisense to Xist at the X-inactivation centre. Nature Genetics 21: 400–404.
    Lemke J, Claussen J, Michel S et al. (2002) The DNA-based structure of human chromosome 5 in interphase. American Journal of Human Genetics 71: 1051–1059.
    Lyon MF (1961) Gene action in the X-chromosome of the mouse (Mus musculusL). Nature 190: 372–373.
    Lyon MF (1998) X-chromosome inactivation: a repeat hypothesis. Cytogenetics and Cell Genetics 80: 133–140.
    Mak W, Nesterova TB, De Napoles M et al. (2004) Reactivation of the paternal X chromosome in early mouse embryos. Science 303: 666–669.
    McDonald LE, Paterson CA and Kay GF (1998) Bisulfite genomic sequencing-derived methylation profile of the Xist gene throughout early mouse development. Genomics 54: 379–386.
    Muller HJ (1932) Further studies on the nature and causes of gene mutation. Proceedings of the 6th Congress of Genetics 1: 213–255.
    Okamoto I, Otte AP, Allis CD et al. (2003) Epigenetic dynamics of imprinted X inactivation during early mouse development. Science 303: 644–649.
    Panning B and Jaenisch R (1998) RNA and the epigenetic regulation of X chromosome inactivation. Cell 93: 305–308.
    Percec I, Plenge RM, Nadeau JH, Bartolomei MS and Willard HF (2002) Autosomal dominant mutations affecting X inactivation choice in the mouse. Science 296: 1136–1139.
    Rastan S and Robertson EJ (1985) X-chromosome deletions in embryo-derived (EK) cell lines associated with lack of X-chromosome inactivation. I. Embryology and Experimental Morphology 90: 379–388.
 Further Reading
    Brockdorff N and Duthie SM (1998) X-chromosome inactivation and the Xist gene. Cellular and Molecular Life Sciences 54: 104–112.
    Goto T and Monk M (1998) Regulation of X-chromosome inactivation in development in mice and humans. Microbiology and Molecular Biology Reviews 62: 362–378.
    Heard C, Clerc P and Avner P (1997) X-chromosome inactivation in mammals. Annual Review of Genetics 31: 571–610.
    Lyon MF (1961) Gene action in the X chromosome of the mouse. Nature 190: 372–373.
    Panning B and Jaenisch R (1998) RNA and the epigenetic regulation of X chromosome inactivation. Cell 93: 305–308.
    Spusta SC and Goldman MA (1999) XISTential wanderings: the role of XIST RNA in X-chromosome inactivation. Current Science 77: 530–537.
Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Gartler, Stanley M, and Goldman, Michael A(May 2005) X‐Chromosome Inactivation. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0004172]