X inactivation and disease

Seminars in Cell and Developmental Biology

Volumn 21, Issue 2, 2010, Pages 194-200

  Agrelo, Ruben ^a   Wutz, Anton ^a  

^a RESEARCH INSTITUTE OF MOLECULAR PATHOLOGY   (Austria)

Author keywords

Chromatin; Dosage compensation; Epigenetics; Gene regulation; Stem cells; X inactivation; Xist RNA

Indexed keywords

CANCER CELL; EMBRYONIC STEM CELL; EPIGENETICS; GENE DOSAGE; GENE EXPRESSION REGULATION; GENE SILENCING; HUMAN; NONHUMAN; PROGERIA; REVIEW; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

MAMMALIA;

EID: 77049097376     PISSN: 10849521     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.semcdb.2009.09.017     Document Type: Review

References (69)

1. Wutz A., and Gribnau J. X inactivation Xplained. Curr Opin Genet Dev 17 (2007) 387-393
2. Savarese F., Flahndorfer K., Jaenisch R., Busslinger M., and Wutz A. Hematopoietic precursor cells transiently reestablish permissiveness for X inactivation. Mol Cell Biol 26 (2006) 7167-7177
3. Agrelo R., Souabni A., Novatchkova M., Haslinger C., Leeb M., Komnenovic V., et al. SATB1 defines the developmental context for gene silencing by Xist in lymphoma and embryonic cells. Dev Cell 16 (2009) 507-516
4. Shumaker D.K., Dechat T., Kohlmaier A., Adam S.A., Bozovsky M.R., Erdos M.R., et al. Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging. Proc Natl Acad Sci USA 103 (2006) 8703-8708
5. Whitelaw E. Unravelling the X in sex. Dev Cell 11 (2006) 759-762
6. Takagi N., and Sasaki M. Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse. Nature 256 (1975) 640-642
7. Davidow L.S., Breen M., Duke S.E., Samollow P.B., McCarrey J.R., and Lee J.T. The search for a marsupial XIC reveals a break with vertebrate synteny. Chromosome Res 15 (2007) 137-146
8. Hore T.A., Koina E., Wakefield M.J., and Marshall Graves J.A. The region homologous to the X-chromosome inactivation centre has been disrupted in marsupial and monotreme|mammals. Chromosome Res 15 (2007) 147-161
9. Shevchenko A.I., Zakharova I.S., Elisaphenko E.A., Kolesnikov N.N., Whitehead S., Bird C., et al. Genes flanking Xist in mouse and human are separated on the X chromosome in American marsupials. Chromosome Res 15 (2007) 127-136
10. Duret L., Chureau C., Samain S., Weissenbach J., and Avner P. The Xist RNA gene evolved in eutherians by pseudogenization of a protein-coding gene. Science 312 (2006) 1653-1655
11. Itoh Y., Melamed E., Yang X., Kampf K., Wang S., Yehya N., et al. Dosage compensation is less effective in birds than in mammals. J Biol 6 (2007) 2
12. Debrand E., Chureau C., Arnaud D., Avner P., and Heard E. Functional analysis of the DXPas34 locus, a 3′ regulator of Xist expression. Mol Cell Biol 19 (1999) 8513-8525
13. Nicodemi M., and Prisco A. Symmetry-breaking model for X-chromosome inactivation. Phys Rev Lett 98 (2007) 108104
14. Bacher C.P., Guggiari M., Brors B., Augui S., Clerc P., Avner P., et al. Transient colocalization of X-inactivation centres accompanies the initiation of X inactivation. Nat Cell Biol 8 (2006) 293-299
15. Xu N., Tsai C.L., and Lee J.T. Transient homologous chromosome pairing marks the onset of X inactivation. Science 311 (2006) 1149-1152
16. Anguera M.C., Sun B.K., Xu N., and Lee J.T. X-chromosome kiss and tell: how the xs go their separate ways. Cold Spring Harb Symp Quant Biol 71 (2006) 429-437
17. Vazquez J., Muller M., Pirrotta V., and Sedat J.W. The Mcp element mediates stable long-range chromosome-chromosome interactions in Drosophila. Mol Biol Cell 17 (2006) 2158-2165
18. Mlynarczyk-Evans S., Royce-Tolland M., Alexander M.K., Andersen A.A., Kalantry S., Gribnau J., et al. X chromosomes alternate between two states prior to random X-inactivation. PLoS Biol 4 (2006) e159
19. Lee J.T. Homozygous Tsix mutant mice reveal a sex-ratio distortion and revert to random X-inactivation. Nat Genet 32 (2002) 195-200
20. Van den Veyver I.B. Skewed X inactivation in X-linked disorders. Semin Reprod Med 19 (2001) 183-191
21. Franco B., and Ballabio A.X. Inactivation and human disease: X-linked dominant male-lethal disorders. Curr Opin Genet Dev 16 (2006) 254-259
22. Ørstavik K.H., Knudsen G.P., Nordgarden H., Ormerod E., Strømme P., Lazarou L.P., et al. Clinical report severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene. Am J Med Genet A 143A (2007) 1510-1513
23. Sun B.K., Deaton A.M., and Lee J.T. A transient heterochromatic state in Xist preempts X inactivation choice without RNA stabilization. Mol Cell 21 (2006) 617-628
24. Clemson C.M., Chow J.C., Brown C.J., and Lawrence J.B. Stabilization and localization of Xist RNA are controlled by separate mechanisms and are not sufficient for X inactivation. J Cell Biol 142 (1998) 13-23
25. Wutz A., Rasmussen T.P., and Jaenisch R. Chromosomal silencing and localization are mediated by different domains of Xist RNA. Nat Genet 30 (2002) 167-174
26. Clemson C.M., Hall L.L., Byron M., McNeil J., and Lawrence J.B. The X chromosome is organized into a gene-rich outer rim and an internal core containing silenced nongenic sequences. Proc Natl Acad Sci USA 103 (2006) 7688-7693
27. Lyon M.F. The Lyon and the LINE hypothesis. Semin Cell Dev Biol 14 (2003) 313-318
28. Heard E., and Disteche C.M. Dosage compensation in mammals: fine-tuning the expression of the X chromosome. Genes Dev 20 (2006) 1848-1867
29. Sado T., Fenner M.H., Tan S.S., Tam P., Shioda T., and Li E. X inactivation in the mouse embryo deficient for Dnmt1: distinct effect of hypomethylation on imprinted and random X inactivation. Dev Biol 225 (2000) 294-303
30. Chaumeil J., Le Baccon P., Wutz A., and Heard E. A novel role for Xist RNA in the formation of a repressive nuclear compartment into which genes are recruited when silenced. Genes Dev 20 (2006) 2223-2237
31. Wutz A., and Jaenisch R. A shift from reversible to irreversible X inactivation is triggered during ES cell differentiation. Mol Cell 5 (2000) 695-705
32. Csankovszki G., Nagy A., and Jaenisch R. Synergism of Xist RNA, DNA methylation, and histone hypoacetylation in maintaining X chromosome inactivation. J Cell Biol 153 (2001) 773-784
33. Lebon J.M., Tam P.P., Singer-Sam J., Riggs A.D., and Tan S.S. Mouse endogenous X-linked genes do not show lineage-specific delayed inactivation during development. Genet Res 65 (1995) 223-227
34. Tam P.P., Zhou S.X., and Tan S.S. X-chromosome activity of the mouse primordial germ cells revealed by the expression of an X-linked lacZ transgene. Development 120 (1994) 2925-2932
35. Brinkman A.B., Roelofsen T., Pennings S.W., Martens J.H., Jenuwein T., and Stunnenberg H.G. Histone modification patterns associated with the human X chromosome. EMBO Rep 7 (2006) 628-634
36. Valley C.M., Pertz L.M., Balakumaran B.S., and Willard H.F. Chromosome-wide, allele-specific analysis of the histone code on the human X chromosome. Hum Mol Genet 15 (2006) 2335-2347
37. Masui O., and Heard E. RNA and protein actors in x-chromosome inactivation. Cold Spring Harb Symp Quant Biol 71 (2006) 419-428
38. Hellman A., and Chess A. Gene body-specific methylation on the active X chromosome. Science 315 (2007) 1141-1143
39. Blewitt M.E., Gendrel A.V., Pang Z., Sparrow D.B., Whitelaw N., Craig J.M., et al. SmcHD1 containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation. Nat Genet 40 (2008) 663-669
40. Beard C., Li E., and Jaenisch R. Loss of methylation activates Xist in somatic but not in embryonic cells. Genes Dev 9 (1995) 2325-2334
41. Barr H., Hermann A., Berger J., Tsai H.H., Adie K., Prokhortchouk A., Hendrich B., and Bird A. Mbd2 contributes to DNA methylation-directed repression of the Xist gene. Mol Cell Biol 27 (2007) 3750-3757
42. Okamoto I., Arnaud D., Le Baccon P., Otte A.P., Disteche C.M., Avner P., et al. Evidence for de novo imprinted X-chromosome inactivation independent of meiotic inactivation in mice. Nature 438 (2005) 369-373
43. Okamoto I., Otte A.P., Allis C.D., Reinberg D., and Heard E. Epigenetic dynamics of imprinted X inactivation during early mouse development. Science 303 (2004) 644-649
44. Huynh K.D., and Lee J.T. Inheritance of a pre-inactivated paternal X chromosome in early mouse embryos. Nature 426 (2003) 857-862
45. Mak W., Nesterova T.B., de Napoles M., Appanah R., Yamanaka S., Otte A.P., et al. Reactivation of the paternal X chromosome in early mouse embryos. Science 303 (2004) 666-669
46. de Napoles M., Nesterova T., and Brockdorff N. Early loss of Xist RNA expression and inactive X chromosome associated chromatin modification in developing primordial germ cells. PLoS One 2 (2007) e860
47. Sugimoto M., and Abe K. X chromosome reactivation initiates in nascent primordial germ cells in mice. PLoS Genet 3 (2007) e116
48. Chuva de Sousa Lopes S.M., Hayashi K., Shovlin T.C., Mifsud W., Surani M.A., and McLaren A. X chromosome activity in mouse XX primordial germ cells. PLoS Genet 4 (2008) e30
49. Takagi N., Yoshida M.A., Sugawara O., and Sasaki M. Reversal of X-inactivation in female mouse somatic cells hybridized with murine teratocarcinoma stem cells in vitro. Cell 34 (1983) 1053-1062
50. Navarro P., Chambers I., Karwacki-Neisius V., Chureau C., Morey C., Rougeulle C., et al. Molecular coupling of Xist regulation and pluripotency. Science 321 (2008) 1693-1695
51. Kohlmaier A., Savarese F., Lachner M., Martens J., Jenuwein T., and Wutz A. A chromosomal memory triggered by Xist regulates histone methylation in X inactivation. PLoS Biol 7 (2004) E171
52. Huang K.C., Rao P.H., Lau C.C., Heard E., Ng S.K., Brown C., et al. Relationship of XIST expression and responses of ovarian cancer to chemotherapy. Mol Cancer Ther 1 (2002) 769-776
53. Kawakami T., Okamoto K., Ogawa O., and Okada Y. XIST unmethylated DNA fragments in male-derived plasma as a tumour marker for testicular cancer. Lancet 363 (2004) 40-42
54. Kawakami T.K., Okamoto H., Sugihara T., Hattori A., Reeve E., Ogawa O., et al. The roles of supernumerical X chromosomes and XIST expression in testicular germ cell tumors. J Urol 169 (2003) 1546-1552
55. Looijenga L.H., Gillis A.J., van Gurp R.J., Verkerk A.J., and Oosterhuis J.W. X inactivation in human testicular tumors. XIST expression and androgen receptor methylation status. Am J Pathol 151 (1997) 581-585
56. Hall L.L., Byron M., Sakai K., Carrel L., Willard H.F., and Lawrence J.B. An ectopic human XIST gene can induce chromosome inactivation in postdifferentiation human HT-1080 cells. Proc Natl Acad Sci USA 99 (2002) 8677-8682
57. Chiarle R., Voena C., Ambrogio C., Piva R., and Inghirami G. The anaplastic lymphoma kinase in the pathogenesis of cancer. Nat Rev Cancer 8 (2008) 11-23
58. Morris S.W., Kirstein M.N., Valentine M.B., Dittmer K.G., Shapiro D.N., Saltman D.L., et al. Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin's lymphoma. Science 263 (1994) 1281-1284
59. Cai S., Lee C.C., and Kohwi-Shigematsu T. SATB1 packages densely looped, transcriptionally active chromatin for coordinated expression of cytokine genes. Nat Genet 38 (2006) 1278-1288
60. Yasui D., Miyano M., Cai S., Varga-Weisz P., and Kohwi-Shigematsu T. SATB1 targets chromatin remodelling to regulate genes over long distances. Nature 419 (2002) 641-645
61. Ohm J.E., McGarvey K.M., Yu X., Cheng L., Schuebel K.E., Cope L., et al. A stem cell-like chromatin pattern may predispose tumor suppressor genes to DNA hypermethylation and heritable silencing. Nat Genet 37 (2007) 239-242
62. Han H.J., Russo J., Kohwi Y., and Kohwi-Shigematsu T. SATB1 reprogrammes gene expression to promote breast tumour growth and metastasis. Nature 452 (2008) 187-193
63. Ganesan S., Silver D.P., Greenberg R.A., Avni D., Drapkin R., Miron A., et al. BRCA1 supports XIST RNA concentration on the inactive X chromosome. Cell 111 (2002) 393-395
64. Vincent-Salomon A., Ganem-Elbaz C., Manié E., Raynal V., Sastre-Garau X., Stoppa-Lyonnet D., et al. X inactive-specific transcript RNA coating and genetic instability of the X chromosome in BRCA1 breast tumors. Cancer Res 67 (2007) 5134-5140
65. Brockdorff N. SAT in silence. Dev Cell 16 (2009) 483-484
66. Krivtsov A.V., Twomey D., Feng Z., Stubbs M.C., Wang Y., Faber J., et al. Transformation from committed progenitor to leukaemia stem cell initiated by MLL-AF9. Nature 442 (2006) 818-822
67. Dobreva G., Dambacher J., and Grosschedl R. SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression. Genes Dev 17 (2003) 3048-3061
68. Li M.Z., Wang J.S., Jiang D.J., Xiang C.X., Wang F.Y., Zhang K.H., et al. Molecular mapping of developing dorsal horn-enriched genes by microarray and dorsal/ventral subtractive screening. Dev Biol 292 (2006) 555-564
69. Esteller M. Epigenetics in cancer. N Engl J Med 358 (2008) 1148-1159