ICF syndrome cells as a model system for studying X chromosome inactivation

Cytogenetic and Genome Research

Volumn 99, Issue 1-4, 2002, Pages 25-29

  Gartler, S M ^a,b   Hansen, R S ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE;

CENTROMERE; CHROMATIN STRUCTURE; CHROMOSOME ABERRATION; CHROMOSOME REPLICATION; CHROMOSOME SATELLITE; CPG ISLAND; DISEASE MODEL; FACE MALFORMATION; GENE SILENCING; GENE TARGETING; HETEROCHROMATIN; HUMAN; IMMUNE DEFICIENCY; MOLECULAR MODEL; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVIEW; X CHROMOSOME; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; CENTROMERE; CHROMOSOMAL INSTABILITY; CHROMOSOMES, HUMAN, X; CPG ISLANDS; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; DNA METHYLATION; DOSAGE COMPENSATION, GENETIC; FACE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; SYNDROME;

EID: 0344961838     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000071571     Document Type: Review

References (43)

1. Bourc'his D, Miniou P, et al: Abnormal methylation does not prevent X inactivation in ICF patients. Cytogenet Cell Genet 84:245-252 (1999).
2. Bourc'his D, Xu GL, et al: Dnmt3L and the establishment of maternal genomic imprints. Science 294:2536-2539 (2001).
3. Brown KE, Baxter J, et al: Dynamic repositioning of genes in the nucleus of lymphocytes preparing for cell division. Mol Cell 3:207-217 (1999).
4. Brown KE, Guest SS, et al: Association of transcriptionally silent genes with Ikaros complexes at centromeric heterochromatin. Cell 91:845-854 (1997).
5. Chen T, Ueda Y, et al: A novel dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation. J biol Chem 277:38746-38754 (2002).
6. Clemson CM, Chow JC, et al: Stabilization and localization of Xist RNA are controlled by separate mechanisms and are not sufficient for X inactivation. J Cell Biol 142:13-23 (1998).
7. Csankovszki G, Nagy A, et al: Synergism of Xist RNA DNA methylation and histone hypoacetylation in maintaining X chromosome inactivation. J Cell Biol 153:773-784 (2001).
8. De Smet C, Lurquin C, et al: DNA methylation is the primary silencing mechanism for a set of germ line-and tumor-specific genes with a CpG-rich promoter. Mol Cell Biol 19:7327-7335 (1999).
9. Delgado S, Gomez M, et al: Initiation of DNA replication at CpG islands in mammalian chromosomes. EMBO J 17:2426-2435 (1998).
10. Di Croce L, Raker VA, et al: Methyltransferase recruitment and DNA hypermethylation of target promoters by an oncogenic transcription factor. Science 295:1079-1082 (2002).
11. Ehrlich M, Buchanan KL, et al: DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. Hum molec Genet 10:2917-2931 (2001).
12. Frommer M, McDonald LE, et al: A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands. Proc natl Acad Sci, USA 89:1827-1831 (1992).
13. Gartler SM, Dyer KA, et al: A two step model for mammalian X-chromosome inactivation. Prog Clin Biol Res 198:223-235 (1985).
14. Gowher H, Jeltsch A: Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases. J biol Chem 277:20409-20414 (2002).
15. Hansen RS, Canfield TK, et al: Role of late replication timing in the silencing of X-linked genes. Hum molec Genet 5:1345-1353 (1996).
16. Hansen RS, Canfield TK, et al: Reactivation of XIST in normal fibroblasts and a somatic cell hybrid: abnormal localization of XIST RNA in hybrid cells. Proc natl Acad Sci, USA 95:5133-5138 (1998).
17. Hansen RS, Stoger R, et al: Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant. Hum molec Genet 9:2575-2587 (2000).
18. Hansen RS, Wijmenga C, et al: The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc natl Acad Sci, USA 96:14412-14417 (1999).
19. Hassan KM, Norwood T, et al: Satellite 2 methylation patterns in normal and ICF syndrome cells and association of hypomethylation with advanced replication. Hum Genet 109:452-462 (2001).
20. Hata K, Okano M, et al: Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice. Development 129:1983-1993 (2002).
21. Holliday R: Mutations and epimutations in mammalian cells. Mutat Res 250:351-363 (1991).
22. Hultén M: Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency. Clin Genet 14:294 (1978).
23. Jeanpierre M, Turleau C, et al: An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum molec Genet 2:731-735 (1993).
24. Ji W, Hernandez R, et al: DNA demethylation and pericentromeric rearrangements of chromosome 1. Mutat Res 379:33-41 (1997).
25. Kleinjan DJ, van Heyningen V: Position effect in human genetic disease. Hum molec Genet 7:1611-1618 (1998).
26. Kondo T, Bobek MP, et al: Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2. Hum molec Genet 9:597-604 (2000).
27. Maraschio P, Zuffardi O, et al: Immunodeficiency centromeric heterochromatin instability of chromosomes 1, 9 and 16 and facial anomalies: the ICF syndrome. J med Genet 25:173-180 (1988).
28. Matarazzo MR, De Bonis ML, et al: Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes. Hum molec Genet 11:3191-3198 (2002).
29. Miniou P, Bourc'his D, et al: Undermethylation of Alu sequences in ICF syndrome: molecular and in situ analysis. Cytogenet Cell Genet 77:308-313 (1997).
30. Miniou P, Jeanpierre M, et al: Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients. Hum molec Genet 3:2093-2102 (1994).
31. Mohandas T, Sparkes RS, et al: Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation. Science 211:393-396 (1981).
32. Okano M, Bell DW, et al: DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 99:247-257 (1999).
33. Okano M, Xie S, et al: Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases. Nature Genet 19:219-220 (1998).
34. Østergaard PA: A girl with recurrent infections, low IgM and an abnormal chromosome number 1. Acta Paediatr Scand 62:211-215 (1973).
35. Sasaki T, Hansen RS, et al: Hemimethylation and hypersensitivity are early events in transcriptional reactivation of human inactive X-linked genes in a hamster x human somatic cell hybrid. Mol Cell Biol 12:3819-3826 (1992).
36. Schmid M, Haaf T, et al: 5-Azacytidine-induced under-condensations in human chromosomes. Hum Genet 67:257-263 (1984).
37. Tao Q, Huang H, et al: Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells. Hum molec Genet 11:2091-2102 (2002).
38. Tiepolo L, Maraschio P, et al: Concurrent instability at specific sites of chromosomes 1, 9 and 16 resulting in multibranched structures. Clin Genet 14:313-314 (1978).
39. Viegas-Pequignot E, Dutrillaux B: Segmentation of human chromosomes induced by 5-ACR (5-azacytidine). Hum Genet 34:247-254 (1976).
40. Wakimoto BT: Beyond the nucleosome: epigenetic aspects of position-effect variegation in Drosophila. Cell 93:321-324 (1998).
41. Warnecke PM, Clark SJ: DNA methylation profile of the mouse skeletal alpha-actin promoter during development and differentiation. Mol Cell Biol 19:164-172 (1999).
42. Wijmenga C, van den Heuvel LP, et al: Localization of the ICF syndrome to chromosome 20 by homozygosity mapping. Am J hum Genet 63:803-809 (1998).
43. Xu GL, Bestor TH, et al: Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 402: 187-191 (1999).