Prolonged culture of normal chorionic villus cells yields ICF syndrome-like chromatin decondensation and rearrangements

Cytogenetic and Genome Research

Volumn 98, Issue 1, 2002, Pages 13-21

  Tsien, F ^a   Fiala, E S ^b   Youn, B ^b   Long, T I ^c   Laird, P W ^c   Weissbecker, K ^a   Ehrlich, M ^a  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b AMERICAN HEALTH FOUNDATION   (United States)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE; SATELLITE DNA; DNA;

ARTICLE; CELL CULTURE; CHORION VILLUS SAMPLING; CHROMATIN DECONDENSATION; CHROMOSOME 1; CHROMOSOME 16Q; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; DNA DAMAGE; DNA HYPERMETHYLATION; DNA HYPOMETHYLATION; DNA METHYLATION; GENE MUTATION; GENETIC RECOMBINATION; HETEROCHROMATIN; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY CENTROMETIC REGION INSTABILITY AND FACIAL ANOMALIES SYNDROME; METAPHASE; PRIORITY JOURNAL; SKIN FIBROBLAST; SYNDROME; AMNION FLUID; CELL DIVISION; CENTROMERE; CHORION; CHORION VILLUS; CHROMATIN; CHROMOSOME MAP; CULTURE TECHNIQUE; CYTOLOGY; FEMALE; GENE REARRANGEMENT; GENETICS; METHODOLOGY; PHYSIOLOGY; PREGNANCY; ULTRASTRUCTURE;

AMNIOTIC FLUID; CELL CULTURE TECHNIQUES; CELL DIVISION; CENTROMERE; CHORION; CHORIONIC VILLI; CHORIONIC VILLI SAMPLING; CHROMATIN; CHROMOSOME MAPPING; DNA; FEMALE; GENE REARRANGEMENT; HUMANS; METAPHASE; PREGNANCY;

EID: 0036982051     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000068543     Document Type: Article

References (41)

1. Bartnitzke S, Skarbek H, Lackmann C, Bullerdiek J: Chang medium raises the chromatin instability of pericentromeric areas of chromosome 1 in amniotic fluid cells. Prenat Diagn 12:310-311 (1992).
2. Brown DC, Grace E, Summer AT, Edmunds AT, Ellis PM: ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of a clinical outcome. Hum Genet 96:411-416 (1995).
3. Carpenter NJ, Fillpovich A, Blaese RM, Carey TL, Berkel AI: Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16. J Ped 112:757-760 (1988).
4. Chen WW: Studies on the origin of human amniotic fluid cells by immunofluorescent staining of keratin filaments. J Med Genet 19:433-436 (1982).
5. De Ravel TJ, Deckers E, Alliet PL, Petit P, Fryns JP: The ICF syndrome: new case and update. Genet Couns 12:379-385 (2001).
6. Eads CA, Danenberg KD, Kawakami K, Saltz LB, Danenberg PV, Laird PW: CpG island hypermethylation in human colorectal tumors is not associated with DNA methyltransferase overexpression. Cancer Res 59:2302-2306 (1999).
7. Ehrlich M: DNA methylation in cancer: Too much, but also too little. Oncogene 21:5400-5413 (2002).
8. Ehrlich M, Buchanan K, Tsien F, Jiang G, Sun B, Uicker W, Weemaes C, Smeets D, Sperling K, Belohradsky B, Tommerup N, Misek D, Kuick R, Hanash S: DNA methyltransferase 3B mutations linked to the ICF Syndrome cause dysregulation of lymphocyte migration, activation, and survival genes. Hum Mol Genet 10:2917-2931 (2001a).
9. Ehrlich M, Gama-Sosa M, Huang L-H, Midgett RM, Kuo KC, McCune RA, Gehrke C: Amount and distribution of 5-methylcytosine in human DNA from different types of tissues or cells. Nucl Acids Res 10:2709-2721 (1982).
10. Ehrlich M, Hopkins NE, Jiang G, Dome JS, Yu MC, Woods CB, Tomlinson GE, Chintagumpala M, Champagne M, Diller L, Parham DM, Sawyer J: Satellite DNA hypomethylation in karyotyped Wilms tumors. Cancer Gen Cytogenet, in press (2002).
11. Ehrlich M, Tsien F, Herrera D, Blackman V, Roggenbuck J, Tuck-Muller C: High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 seen in rare chorionic villus samples. J med Genet 38:882-884 (2001b).
12. Fenech M: The role of folic acid and Vitamin B12 in genomic stability of human cells. Mutat Res 475:57-67 (2001).
13. Gardner RJM, Sutherland GR: Chromosome Abnormalities and Genetic Counseling. (Oxford University Press, New York 1996).
14. Gosden CM: Amniotic fluid cell types and culture. Br med Bull 39:348-354 (1983).
15. Haaf T: The effects of 5-azacytidine and 5-azadeoxycytidine on chromosome structure and function: implications for methylation-associated cellular processes. Pharmac Ther 65:19-46 (1995).
16. Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, Weemaes CM, Gartler SM: The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc natl Acad Sci, USA 96:14412-14417 (1999).
17. Hernandez R, Frady A, Zhan, X-Y, Varela M, Ehrlich M: Preferential induction of chromosome 1 multi-branched figures and whole-arm deletions in a human pro-B cell line treated with 5-azacytidine or 5-azadeoxycytidine. Cytogenet Cell Genet 76:196-201 (1997).
18. Hoehn H, Salk D: Morphological and biochemical heterogeneity of amniotic fluid cells in culture. Meth Cell Biol 26:11-34 (1982).
19. Howard PJ, Lewis IJ, Harris F, Walker S: Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome. Clin Genet 27:501-505 (1985).
20. Hulten M: Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency. Clin Genet 14:294 (1978).
21. Jeanpierre M, Turleau C, Aurias A, Prieur M, Ledeist F, Fischer A, Viegas-Pequignot E: An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum molec Genet 2:731-735 (1993).
22. Jeanpierre M: Human satellite 2 and 3. Ann Rev Genet 37:163-171 (1994).
23. Ji W, Hernandez R, Zhang X-Y, Qu G, Frady A, Varela M, Ehrlich M: DNA demethylation and pericentromeric rearrangements of chromosome 1. Mutat Res 379:33-41 (1997).
24. Kokalj-Vokac N, Almeida A, Viegas-Pequignot E, Jeanpierre M, Malfoy B: Specific induction of uncoiling and recombination by azacytidine in classical satellite-containing constitutive heterochromatin. Cytogenet Cell Genet 63: 11-15 (1993).
25. Miguez L, Fuster C, Perez MM, Miro R, Egozcue J: Spontaneous chromosome fragility in chorionic villus cells. Early Hum Dev 26:93-99 (1991).
26. Miniou P, Jeanpierre M, Blanquet V, Sibella V, Bonneau D, Herbelin C, Fischer A, Niveleau A, Viegas-Pequignot ET: Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients. Hum mol Genet 3:2093-2102 (1994).
27. Moyzis RK, Albright KL, Bartholdi MF, Cram LS, Deaven LL, Hildebrand CE, Joste NE, Longmire JL, Meyne J, Schwarzacher-Robinson T: Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis. Chromosoma 95:375-386 (1987).
28. Narayan A, Ji W, Zhang XY, Marrogi A, Graff JR, Baylin SB, Ehrlich M: Hypomethylation of pericentromeric DNA in breast adenocarcinomas. Int J Cancer 77:833-838 (1998).
29. Perez MM, Miguez L, Fuster C, Miro R, Genesca G, Egozcue J: Heterochromatin decondensation in chromosomes from chorionic villus samples. Prenat Diagn 11:697-704 (1991).
30. Qu G, Dubeau L, Narayan A, Yu M, Ehrlich M: Satellite DNA hypomethylation vs. overall genomic hypomethylation in ovarian epithelial tumors of different malignant potential. Mutat Res 423:91-101 (1999a).
31. Qu G, Grundy PE, Narayan A, Ehrlich M: Frequent hypomethylation in Wilms tumors of pericentromeric DNA in chromosomes 1 and 16. Cancer Genet Cytogenet 109:34-39 (1999b).
32. Rupa DS, Hasegawa L, Eastmond DA: Detection of (chromosomal breakage in the 1cen→1q12 region of interphase. Cancer Res 55:640-645 (1995).
33. Schuffenhauer S, Bartsch O, Stumm M, Buchholz T, Petropoulou T, Kraft S, Belohradsky B, Meitinger T, Wegner R: DNA, FISH and complementation studies in ICF syndrome; DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor. Hum Genet 96:562-571 (1995).
34. Smeets DFCM, Moog U, Weemaes CMR, Vaes-Peeters G, Merkx GFM, Niehof JP, Hamers G: ICF syndrome: a new case and review of the literature. Hum Genet 94:240-246 (1994).
35. Sumner AT, Mitchell AR, Ellis PM: A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves. J med Genet 35:833-835 (1998).
36. Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C: Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency. Hum Genet 51:127-137 (1979).
37. Tuck-Muller CM, Narayan A, Tsien F, Smeets D, Sawyer J, Fiala ES, Sohn O, Ehrlich M: DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients. Cytogenet Cell Genet 89:121-128 (2000).
38. Turleau C, Cabanis M-O, Girault D, Ledeist F, Mettey R, Puissant H, Marguerite P, de Grouchy J: Multi-branched chromosomes in the ICF syndrome: Immunodeficiency, centromeric instability, and facial anomalies. Am J Med Genet 32:420-424 (1989).
39. Viegas-Pequignot E, Dutrillaux B: Segmentation of human chromosomes induced by 5-ACR (5-azacytidine). Hum Genet 34:247-254 (1976).
40. Waye JS, Durfy SJ, Pinkel D, Kenwrick S, Patterson M, Davies KE, Willard HF: Chromosome-specific alpha satellite DNA from human chromosome 1: hierarchical structure and genomic organization of polymorphic domain spanning several hundred kilobase pairs of centromeric DNA. Genomics 1:43-51 (1987).
41. Wijmenga C, Hansen RS, Gimelli G, Bjorck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL: Genetic variation in ICF syndrome: Evidence for genetic heterogeneity. Hum Mutat 16:509-517 (2000).