DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes

Human Molecular Genetics

Volumn 10, Issue 25, 2001, Pages 2917-2931

  Ehrlich, Melanie ^a   Buchanan, Kent L ^a   Tsien, Fern ^a   Jiang, Guanchao ^a   Sun, Baodong ^a   Uicker, William ^a   Weemaes, Corry M R ^b   Smeets, Dominique ^b   Sperling, Karl ^c   Belohradsky, Bernd H ^d   Tommerup, Niels ^e   Misek, David E ^f   Rouillard, Jean Marie ^f   Kuick, Rork ^f   Hanash, Samir M ^f  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Institute of Human Genetics   (Germany)

^d UNIVERSITY OF MUNICH   (Germany)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

^f UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 METHYLCYTOSINE; CELL SURFACE IMMUNOGLOBULIN; DNA METHYLTRANSFERASE; HEAT SHOCK PROTEIN; HEME OXYGENASE; IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; IMMUNOGLOBULIN M; INTEGRIN; MYOCYTE ENHANCER FACTOR 2; PROTEIN KINASE C; RNA; TRANSCRIPTION FACTOR; TRANSFERRIN RECEPTOR; TUMOR NECROSIS FACTOR RECEPTOR;

ANIMAL CELL; APOPTOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; B LYMPHOCYTE; CELL LINE; CELL MATURATION; CELL MIGRATION; CENTROMERE; CHROMOSOME 1; CHROMOSOME 16; CHROMOSOME DISORDER; CONTROLLED STUDY; DNA MICROARRAY; FACE MALFORMATION; GENE CONTROL; GENE EXPRESSION; GENE MUTATION; GENOME; HETEROCHROMATIN; IMMUNE DEFICIENCY; LYMPHOID CELL; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN METHYLATION; RESTRICTION MAPPING;

ANIMALIA;

EID: 0035667192     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.25.2917     Document Type: Article

References (63)

1. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
2. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development
3. ICF syndrome: A new case and review of the literature
4. DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients
5. An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome
6. DNA, FISH and complementation studies in ICF syndrome; DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor
7. Hypersensitivity to radiation-induced non-apoptotic and apoptotic death in cell lines from patients with the ICF chromosome instability syndrome
8. The BCMA gene, preferentially expressed during B lymphoid maturation, is bidirectionally transcribed
9. TACI and BCMA are receptors for a TNF homologue implicated in B-cell autoimmune disease
10. Tissue distribution of the human soluble guanylate cyclases
11. Mammalian RGS proteins: Barbarians at the gate
12. Regulator of G protein signaling 1 (RGS1) markedly impairs Gi α signaling responses of B lymphocytes
13. Pro-B-cell-specific transcription and proapoptotic function of protein kinase Ceta
14. CD27, a member of the tumor necrosis factor receptor family, induces apoptosis and binds to Siva, a proapoptotic protein
15. MAPkinase: A second site of G-protein regulation of B-cell activation via the antigen receptors
16. Molecular cloning, characterization and chromosomal localization of a human lymphoid tyrosine kinase related to murine Blk
17. β7 integrin-deficient mice: Delayed leukocyte recruitment and attenuated protective immunity in the small intestine during enteric helminth infection
18. Thymocyte selection is regulated by the helix-loop-helix inhibitor protein, Id3
19. B-lymphocyte quiescence, tolerance and activation as viewed by global gene expression profiling on microarrays
20. Myocyte enhancer factor-related B-MEF2 is developmentally expressed in B cells and regulates the immunoglobulin J chain promoter
21. Transferrin receptor synthesis is an early event in B cell activation
22. Human soluble guanylate cyclase: Functional expression and revised isoenzyme family
23. Human recombinant soluble guanylyl cyclase: Expression, purification and regulation
24. Subcellular localization of intracellular protein tyrosine phosphatases in T cells
25. Arrest of G(1)-S progression by the p53-inducible gene PC3 is Rb dependent and relies on the inhibition of cyclin D1 transcription
26. Heme oxygenase: Recent advances in understanding its regulation and role
27. RAR, not RXR, ligands inhibit cell activation and prevent apoptosis in B-lymphocytes
28. Positive and negative regulation of granulopoiesis by endogenous RARα
29. Whole-genome methylation scan in ICF syndrome: Hypomethylation of non-satellite DNA repeats D4Z4 and NBL2
30. Escape from gene silencing in ICF syndrome: Evidence for advanced replication time as a major determinant
31. COBRA: A sensitive and quantitative DNA methylation assay
32. Isolation and characterization of a novel B cell activation gene
33. BCMAp: An integral membrane protein in the Golgi apparatus of human mature B lymphocytes
34. Transcriptional regulation of cell type-specific expression of the TATA-less A subunit gene for human coagulation factor XIII
35. Genetic variation in ICF syndrome: Evidence for genetic heterogeneity
36. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome
37. Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings: A recessively inherited entity?
38. Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9 and 16
39. Multibranched chromosomes in the ICF syndrome: Immunodeficiency, centromeric instability and facial anomalies
40. Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature
41. Inhibition of DNA methyltransferase stimulates the expression of signal transducer and activator of transcription 1, 2 and 3 genes in colon tumor cells
42. Loss of genomic methylation causes p53-dependent apoptosis and epigenetic deregulation
43. RGS molecule expression in murine B lymphocytes and ability to down-regulate chemotaxis to lymphoid chemokines
44. The β7 integrin gene (Itgb-7) promoter is responsive to TGF-β1: Defining control regions
45. B-cell maturation protein, which binds the tumor necrosis factor family members BAFF and APRIL, is dispensable for humoral immune responses
46. TNF receptor family member BCMA (B cell maturation) associates with TNF receptor-associated factor (TRAF) 1, TRAF2 and TRAF3 and activates NF-κ B, elk-1, c-Jun N-terminal kinase and p38 mitogen-activated protein kinase
47. Characterization of myocyte enhancer factor 2 (MEF2) expression in B and T cells: MEF2C is a B cell-restricted transcription factor in lymphocytes
48. B cell-specific activator protein prevents two activator factors from binding to the immunoglobulin J chain promoter until the antigen-driven stages of B cell development
49. MHC class II antigen processing in B cells: Accelerated intracellular targeting of antigens
50. Impaired immune responses and B-cell proliferation in mice lacking the Id3 gene
51. z gtpase-activating protein subfamily
52. Regulation of the helix-loop-helix proteins, E2A and Id3, by the Ras-ERK MAPK cascade
53. Maturation-dependent expression and function of the CD49d integrin on monocyte-derived human dendritic cells
54. CD154/CD40 and CD70/CD27 interactions have different and sequential functions in T cell-dependent B cell responses: Enhancement of plasma cell differentiation by CD27 signaling
55. Positions of potential: Nuclear organization and gene expression
56. Binding of Ikaros to the λ5 promoter silences transcription through a mechanism that does not require heterochromatin formation
57. Dynamic repositioning of genes in the nucleus of lymphocytes preparing for cell division
58. + thymocytes by Ikaros proteins in direct competition with an Ets activator
59. Nuclear localization and histone acetylation: A pathway for chromatin opening and transcriptional activation of the human β-globin locus
60. ICF syndrome. Immunodeficiency, chromosomal centromere instability, facial anomalies. Case report and literature review
61. Profiling changes in gene expression during differentiation and maturation of monocyte-derived dendritic cells using both oligonucleotide microarrays and proteomics
62. ABL promoter methylation can exist independently of BCR-ABL transcription in chronic myeloid leukemia hematopoietic progenitors