DNMT3B mutations and DNA methylation defect define two types of ICF syndrome

Human Mutation

Volumn 25, Issue 1, 2005, Pages 56-63

  Jiang, Y L ^a   Rigolet, M ^a   Bourc'his, D ^a   Nigon, F ^a   Bokesoy, I ^b   Fryns, J P ^c   Hulten M ^d   Jonveaux, P ^e   Maraschio, P ^f   Megarbane A ^g   Moncla, A ^h   Viegas Pequignot E ^a  

^a INSTITUT JACQUES MONOD   (France)

^b ANKARA UNIVERSITY   (Turkey)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d UNIVERSITY OF WARWICK   (United Kingdom)

^e CHU NANCY BRABOIS   (France)

^f UNIVERSITY OF PAVIA   (Italy)

^g SAINT JOSEPH UNIVERSITY   (Lebanon)

^h TIMONE HOSPITAL   (France)

Author keywords

Alpha satellites; Classical satellites; DNA methylation; DNMT3B; Genetic heterogeneity; Heterochromatin; ICF syndrome

Indexed keywords

DNA METHYLTRANSFERASE 3B; SATELLITE DNA;

ARTICLE; CENTROMERE; CHROMOSOME ABERRATION; CLINICAL ARTICLE; CONTROLLED STUDY; DNA METHYLATION; ENZYME ACTIVE SITE; FACE MALFORMATION; FEMALE; GENE MUTATION; GENETIC CODE; HETEROCHROMATIN; HUMAN; HUMAN CELL; ICF SYNDROME; IMMUNE DEFICIENCY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SOUTHERN BLOTTING;

CENTROMERE; COHORT STUDIES; CRANIOFACIAL ABNORMALITIES; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MUTATION; RNA SPLICING; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 19944429695     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20113     Document Type: Article

References (36)

1. Bauld R, Grace E, Richards N, Ellis PM. 1991. The ICF syndrome: a rare chromosome instability syndrome. J Med Genet 28:63.
2. Blanco-Betancourt CE, Moncla A, Milili M, Jiang YL, Viegas-Pequignot EM, Roquelaure B, Thuret I, Schiff C. 2003. Defective B-cell negative selection and terminal differentiation in the ICF syndrome. Blood 103:2683-2690.
3. Bourc'his D, Miniou P, Jeanpierre M, Molina Gomes D, Dupont J, De Saint-Basile G, Maraschio P, Tiepolo L, Viegas-Pequignot E. 1999. Abnormal methylation does not prevent X inactivation in ICF patients. Cytogenet Cell Genet 84:245-252.
4. Bourc'his D, Ledeist F, Viegas-Pequignot E. 2003. DNMT3B and the immuno-centromeric-instability-facial anomalies syndrome. In: Epstein CJ, editor. Inborn errors of development: the molecular basis of clinical disorders of morphogenesis. New York: Oxford University Press. p 776-779.
5. Burgers WA, Fuks F, Kouzarides T. 2002. DNA methyltransferases get connected to chromatin. Trends Genet 18:275-277.
6. De Ravel TJ, Deckers E, Alliet PL, Petit P, Fryns JP. 2001. The ICF syndrome: new case and update. Genet Couns 12:379-385.
7. Fryns JP, Azou M, Jaeken J, Eggermont E, Pedersen JC, Van den Berghe H. 1981. Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency. Hum Genet 57:108-110.
8. Gowher H, Jeltsch A. 2002. Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases. J Biol Chem 277:20409-20414.
9. Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, Weemaes CM, Gartler SM. 1999. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc Natl Acad Sci USA 96:14412-14417.
10. Hansen RS, Stoger R, Wijmenga C, Stanek AM, Canfield TK, Luo P, Matarazzo MR, D'Esposito M, Feil R, Gimelli G, Weemaes CM, Lairde D, Gartler SM. 2000. Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant. Hum Mol Genet 9:2575-2587.
11. Hultén M. 1978. Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency: a new syndrome. Clin Genet 14:294-295.
12. Jabs EW, Wolf SF, Migeon BR. 1984. Characterization of a cloned DNA sequence that is present at centromere of all human autosomes and the X chromosome and shows polymorphic variation. Proc Natl Acad Sci USA 81:4884-4888.
13. Jackson JP, Lindroth AM, Cao X, Jacobsen SE. 2002. Control of CpNpG DNA methylation by the KRYPTONITE histone H3 methyltransferase. Nature 416:556-560.
14. Jeanpierre M, Turleau C, Aurias A, Prieur M, Ledeist F, Fischer A, Viegas-Pequignot E. 1993. An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum Mol Genet 2:731-735.
15. Kondo T, Bobek MP, Kuick R, Lamb B, Zhu X, Narayan A, Bourc'his D, Viegas-Pequignot E, Ehrlich M, Hanash SM. 2000. Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2. Hum Mol Genet 9:597-604.
16. Maraschio P, Zuffardi O, Dalla Fior T, Tiepolo L. 1988. Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. J Med Genet 25:173-180.
17. Miniou P, Jeanpierre M, Blanquet V, Sibella V, Bonneau D, Herbelin C, Fischer A, Niveleau A, Viegas-Pequignot E. 1994. Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients. Hum Mol Genet 3:2093-2102.
18. Miniou P, Bourc'his D, Molina Gomes D, Jeanpierre M, Viegas-Pequignot E. 1997a. Undermethylation of Alu sequences in ICF syndrome: molecular and in situ analysis. Cytogenet Cell Genet 77:308-313.
19. Miniou P, Jeanpierre M, Bourc'his D, Coutinho Barbosa AC, Blanquet V, Viegas-Pequignot E. 1997b. Alpha-satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues. Hum Genet 99:738-745.
20. Moyzis RK, Albright KL, Bartholdi M, Cram LS, Deaven LL, Hildebrand CE, Joste NE, Longmire JL, Meyne J, Schwarzacher-Robinson T. 1987. Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis. Chromosoma 95:375-386.
21. Okano M, Bell DW, Haber DA, Li E. 1999. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 99:247-257.
22. Saito Y, Kanai Y, Sakamoto M, Saito H, Ishii H, Hirohashi S. 2002. Overexpression of a splice variant of DNA methyltransferase 3b, DNMT3b4, associated with DNA hypomethylation on pericentromeric satellite regions during human hepatocarcinogenesis. Proc Natl Acad Sci USA 99:10060-10065.
23. Schuffenhauer S, Bartsch O, Stumm M, Buchholz T, Petropoulou T, Kraft S, Belohradsky B, Hinkel GK, Meitinger T, Wegner RD. 1995. 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.
24. Shirohzu H, Kubota T, Kumazawa A, Sado T, Chijiwa T, Inagaki K, Suetake I, Tajima S, Wakui K, Miki Y, Hayashi M, Fukushima Y, Sasaki H. 2002. Three novel DNMT3B mutations in Japanese patients with ICF syndrome. Am J Med Genet 112:31-37.
25. Tamaru H, Selker EU. 2001. A histone H3 methyltransferase controls DNA methylation in Neurospora crassa. Nature 414:277-283.
26. Tamaru H, Zhang X, McMillen D, Singh PB, Nakayama J, Grewal SI, Allis CD, Cheng X, Selker EU. 2003. Trimethylated lysine 9 of histone H3 is a mark for DNA methylation in Neurospora crassa. Nat Genet 34:75-79.
27. Tauris P, Hansen PW. 1983. Functional studies on lymphocytes from two siblings with congenital hypogammaglobulinaemia. Scand J Haematol 30:117-124.
28. Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C. 1978. Concurrent instability at specific sites of chromosomes 1, 9 and 16 resulting in multi-branched structures. Clin Genet 14:313-314.
29. Tükün A, Bökesoy I, Gürsel T, Türner L, Tunaoglu S, Uluoglu O. 1992. Two sibling with ICF syndrome: case reports and review. Dysmorph Clin Genet 6:135-140.
30. Vilain A, Bernardino J, Gerbault-Seureau M, Vogt N, Niveleau A, Lefrancois D, Malfoy B, Dutrillaux B. 2000. DNA methylation and chromosome instability in lymphoblastoid cell lines. Cytogenet Cell Genet 90:93-101.
31. Waye JS, Willard HF. 1987. Organization, and evolution of alpha satellite DNA from human chromosome 11. Chromosoma 95:182-188.
32. Waye J, Durfy S, Pinkel D, Kenwnik S, Patterson M, Davies K, Willard HF. 1987. Chromosome-specific alpha satellite DNA from human chromosome 1: hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA. Genomics 1:41-54.
33. 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, Stengmen E, Weemaes C, Pearson PL. 2000. Genetic variation in ICF syndrome: evidence for genetic heterogeneity. Hum Mutat 16:509-517.
34. Willard HF, Smith KD, Sutherland J. 1984. Isolation and characterization of a major tandem repeat family from the human X chromosome. Nucleic Acids Res 11:2017-2033.
35. Xie S, Wang Z, Okano M, Nogami M, Li Y, He WW, Okumura K, Li E. 1999. Cloning, expression and chromosome locations of the human DNMT3 gene family. Gene 236:87-95.
36. Xu GL, Bestor TH, Bourc'his D, Hsieh CL, Tommerup N, Bugge M, Hulten M, Qu X, Russo JJ, Viegas-Pequignot E. 1999. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 402:187-191.