Abnormal methylation does not prevent X inactivation in ICF patients

Cytogenetics and Cell Genetics

Volumn 84, Issue 3-4, 1999, Pages 245-252

  Bourc'his, D ^c   Miniou, P ^c   Jeanpierre, M ^c   Molina Gomes, D ^c   Dupont, J M ^c   De Saint Basile, G ^a   Maraschio, P ^b   Tiepolo, L ^b   Viegas Péquignot, Evani ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITY OF PAVIA   (Italy)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CENTROMERE; CHROMATIN; CONTROLLED STUDY; CPG ISLAND; DISEASE SEVERITY; DNA METHYLATION; ENZYME ASSAY; FACE DYSMORPHIA; FEMALE; GENETIC STABILITY; HUMAN; HUMAN CELL; ICF SYNDROME; IMMUNE DEFICIENCY; MALE; PRIORITY JOURNAL; SEX DIFFERENCE; X CHROMATIN; X CHROMOSOME INACTIVATION;

EID: 0033053654     PISSN: 03010171     EISSN: None     Source Type: Journal    
DOI: 10.1159/000015269     Document Type: Article

References (55)

1. Allen RC, Zoghbi HY, Moseley AMB, Rosenblatt HM, Belmont JW: Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J hum Genet 51:1229-1239 (1992).
2. Barr ML, Bertram EG: A morphological distinction between neurons of male and female, and the behavior of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature 163:676-677 (1949).
3. Biémont MC, Laurent C, Couturier J, Dutrillaux B: Chronologie de la réplication des bandes des chromosomes sexuels dans les lymphocytes de sujets normaux et anormaux. Ann Genet 21:133-141 (1978).
4. Blonden LA, den Dunnen JT, van Passen HM, Wapenaar mC, Grootscholten PM, Ginjaar HB, Bakker E, Pearson PL, van Ommen GJ: High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization. Nucl Acids Res 17:5611-5621 (1989).
5. Brockdorff N, Ashworth A, Kay GF, McCabe VM, Norris DP, Cooper PJ, Swift S, Rastan S: The product of the mouse Xist gene is a 15-kb inactive X-specific transcript containing no conserved ORF and is located in the nucleus. Cell 71:515-526 (1992).
6. Brown CJ, Ballabio A, Rupert JL, Lafrenière RG, Grompe M, Tonlorenzi R, Willard HF: A gene from the region of the human X inactivation center is expressed exclusively from the inactive chromosome. Nature 349:38-44 (1991).
7. Brown CJ, Hendrich BD, Rupert JL, Lafrenière RG, Xing Y, Lawrence J, Willard HF: 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 71:527-542 (1992).
8. Cattanach BM, Raspberry C, Andrews SJ: Further Xce linkage data. Mouse News Lett 83:186 (1989).
9. Clemson CM, McNeil JA, Willard HF, Lawrence JB: XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure. J Cell Biol 132:259-275 (1996).
10. Cooper DW, Johnston PG, Watson JM, Graves JAM: X-inactivation in marsupials and monotremes. Semin Dev Biol 4:117-128 (1993).
11. Driscoll DJ, Migeon BR: Sex difference in methylation of single-copy genes in human meiotic germ cells: implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations. Somat Cell Mol Genet 16:267-282 (1990).
12. Dutrillaux B, Couturier J, Richer CL, Viegas-Péquignot E: Sequence of DNA replication in 277 R- and Q-bands of human chromosomes using a BrdU treatment. Chromosoma 58:51-61 (1976).
13. Grant M, Zuccotti M, Monk M: Methylation of CpG sites of two X-linked genes coincides with X-inactivation in the female mouse embryo but not in the germ line. Nature Genet 2:161-166 (1992).
14. Graves JA: 5-azacytidine-induced re-expression of alleles on the inactive X chromosome in a hybrid cell line. Exp Cell Res 141:99-105 (1982).
15. Hansen RS, Canfield TK, Fjeld AD, Gartler SM: Role of late replication timing in the silencing of X-linked genes. Hum Mol Genet 5:1345-1353 (1996).
16. Hansen RS, Stöger R, Stanek A, Webbeking A, Garler SM: Hypomethylation, advanced replication time, and incomplete X-inactivation in cells from an ICF patient, in A. S. G. Denver Conference 1998. Am J hum Genet 63:A56 (1998).
17. Heard E, Clerc P, Avner P: X-chromosome inactivation in mammals. A Rev Genet 31:571-610 (1997).
18. Hellmann-Blumberg U, Hintz MF, Gatewood JM, Schmid CW: Developmental differences in methylation of human Alu repeats. Mol cell Biol 13:4523-4530 (1993).
19. Hendrich BD, Brown CJ, Willard HF: Evolutionary conservation of possible functional domains of the human and murine XIST genes. Hum Mol Genet 2:663-672 (1993).
20. Hendriks RW, Chen ZY, Hinds H, Schuurman RKB, Craig IW: An X chromosome X inactivation assay based on differential methylation of a CpG island coupled to a VNTR polymorphism at the 5′ end of the monoamine oxidase A gene. Hum Mol Genet 1:187-194 (1992).
21. Hornstra IK, Yang TP: High-resolution methylation analysis of the human hypoxanthine phosphoribosyltransferase gene 5′ region on the active and inactive X chromosomes: correlation with binding sites for transcription factors. Mol Cell Biol 14:1419-1430 (1994).
22. Hultén M: Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency: a new syndrome. Clin Genet 14:294-295 (1978).
23. Jablonka E, Goitein R, Marcus M, Cedar H: DNA hypomethylation causes an increase in DNase-I sensitivity and an advance in the time of replication of the entire inactive X-chromosome. Chromosoma 93:152-156 (1985).
24. Jeanpierre M, Turleau C, Aurias A, Prieur M, Ledeist F, Fischer A, Viegas-Péquignot E: An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum Mol Genet 2:731-735 (1993).
25. Jeffreys AC, Tamaki K, MacLeod A, Monckton DG, Neil DL, Armour JAL: Complex gene conversion events in germline mutation at human minisatellites. Nature Genet 6:136-145 (1994).
26. Jeppesen P, Mitchell A, Turner B, Perry P: Antibodies to defined histone epitopes reveal variations in chromatin conformation and underacetylation of centromeric heterochromatin in human metaphase chromosomes. Chromosoma 101:322-332 (1992).
27. Jones PA, Taylor SM: Cellular differentiation, cytidine analogs and DNA methylation. Cell 20:85-93 (1980).
28. Kass SU, Pruss D, Wolffe AP: How does DNA methylation repress transcription? Trends Genet 13:444-449 (1997).
29. Kay GF, Penny GD, Patel D, Ashworth A, Brockdorff N, Rastan S: Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation. Cell 72:171-182 (1993).
30. Keohane AM, O'Neill LP, Belyaev ND, Lavender JS, Turner BM: X-inactivation and histone H4 acetylation in embryonic stem cells. Dev Biology 180:618-630 (1996).
31. Keohane AM, Lavender JS, O'Neill LP, Turner BM: Histone acetylation and X inactivation. Dev Genet 22:65-73 (1998).
32. Latt SA: Microfluorometric detection of deoxyribonucleic acid replication in human metaphase chromosomes. Proc natl Acad Sci, USA 70:3395-3399 (1973).
33. Lee JT, Jaenisch R: The (epi)genetic control of mammalian X-chromosome inactivation. CurrOp Genet Dev 7:274-280 (1997).
34. Lyon MF: Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 190:372-373 (1961).
35. Maraschio P, Zuffardi O, Dalla FT, Tiepolo L: Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. J Med Genet 25:173-180 (1988).
36. Migeon BR, Luo S, Jani M, Jeppesen P: The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation. Am J hum Genet 55:497-504 (1994).
37. Miniou P, Jeanpierre M, Blanquet V, Sibella V, Bonneau D, Herbelin C, Fischer A, Niveleau A, Viegas-Péquignot E: Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients. Hum Mol Genet 3:2093-2102 (1994).
38. Miniou P, Bourc'his D, Molina Gomes D, Jeanpierre M, Viegas-Péquignot E: Undermethylation of Alu sequences in ICF syndrome: molecular and in situ analysis. Cytogenet Cell Genet 77:308-313 (1997).
39. Mohandas T, Sparkes RS, Shapiro LJ: Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation. Science 211:393-396 (1981).
40. Monaco AP, Bertelson CJ, Middlesworth W, Coletti CA, Aldridge J, Fischbeck KH, Bartlett R, Pericak-Vance MA. Roses AD, Kunkel LM: Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 316:842-845 (1985).
41. Mukherjee AB, Luckett DC, Herrera RJ: 5-azacytidine-induced decrease in the frequency of Barr body. Genet Res Camb 47:199-203 (1986).
42. Norris DP, Patel D, Kay GF, Penny GD, Brockdorff N, Sheardown SA, Rastan S: Evidence that random and imprinted Xist expression is controlled by preemptive methylation. Cell 77:41-51 (1994).
43. Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL: Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102 (1991).
44. Penny GD, Kay GF, Sheardown SA, Rastan S, Brockdorff N: Requirement for Xist in X chromosome inactivation. Nature 379:131-137 (1996).
45. Pfeifer GP, Steigerwald SD, Hansen RS, Gartler SM, Riggs AD: Polymerase chain reaction-aided genomic sequencing of an X chromosome-linked CpG island: methylation patterns suggest clonal inheritance, CpG site autonomy, and an explanation of activity state stability. Proc natl Acad Sci, USA 87:8252-8256 (1990).
46. Rastan S: Non-random X inactivalion in mouse X-autosome translocations: location of the inactivation center. J Embryol Exp Morph 78:1-22 (1983).
47. Shafer DA, Priest JH: Reversal of DNA methylation with 5-azacytidine alters chromosome replication patterns in human lymphocyte and fibroblast cultures. Am J hum Genet 36:534-545 (1984).
48. Siegfried Z, Cedar H: DNA methylation: a molecular lock. Curr Biol 7:R305-R307 (1997).
49. Snyder RD, Lachmann PJ: Differential effects of 5-azacytidine and 5-azadeoxycytidine on cytotoxicity, DNA strand-breaking and repair of X-ray induced DNA damage in Hela cells. Mutat Res 226:185-190 (1989).
50. Takagi N, Sugawara O, Sasaki M: Regional and temporal changes in the pattern on X-chromosome replication during the early postimplantation of the female mouse. Chromosoma 85:275-286 (1982).
51. Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C: Concurrent instability at specific sites of chromosomes 1,9 and 16 resulting in multi-branched structures. Clin Genet 14:313-314 (1978).
52. Tinker AV, Brown CJ: Induction of XIST expression from the human active X chromosome in mouse/ human somatic cell hybrids by DNA methylation. Nucl Acids Res 26:2935-2940 (1998).
53. Toniolo D, Martini G, Migeon BR, Dono R: Expression of the G6PD locus is associated with demethylation of three CpG islands within 100 kb of DNA. EMBO J 7:401-406 (1988).
54. Tribioli C, Tamanini F, Patrosso C, Milanesi L, Villa A, Pergolizzi R, Maestrini E, Rivella S, Bione S, Mancini M, Verzoni P, Toniolo D: Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in Xq24→Xq28. Nucl Acids Res 20:727-733 (1992).
55. Wijmenga C, van den Heuvel LP, Strengman E, Luyten JA, van der Burgt IJ, de Grool R, Smeets DF, Draaisma JM, van Dongen JJ, De Abreu RA, Pearson PL, Sandkuijl LA, Weemaes CM: Localization of the ICF syndrome to chromosome 20 by homozygosity mapping. Am J hum Genet 63:803-809 (1998).