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Volumn 6, Issue 4, 2011, Pages

Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE 3B; HISTONE H3; HISTONE H4; DNA (CYTOSINE 5) METHYLTRANSFERASE; HISTONE;

EID: 79955782459     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0019464     Document Type: Article
Times cited : (29)

References (37)
  • 1
    • 0033435205 scopus 로고    scopus 로고
    • The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome
    • Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, et al. (1999) The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc Natl Acad Sci U S A 96: 14412-14417.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 14412-14417
    • Hansen, R.S.1    Wijmenga, C.2    Luo, P.3    Stanek, A.M.4    Canfield, T.K.5
  • 2
    • 0033615717 scopus 로고    scopus 로고
    • DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development
    • 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.
    • (1999) Cell , vol.99 , pp. 247-257
    • Okano, M.1    Bell, D.W.2    Haber, D.A.3    Li, E.4
  • 3
    • 0033547330 scopus 로고    scopus 로고
    • Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
    • Xu GL, Bestor TH, Bourc'his D, Hsieh CL, Tommerup N, et al. (1999) Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 402: 187-191.
    • (1999) Nature , vol.402 , pp. 187-191
    • Xu, G.L.1    Bestor, T.H.2    Bourc'his, D.3    Hsieh, C.L.4    Tommerup, N.5
  • 4
    • 19944429695 scopus 로고    scopus 로고
    • DNMT3B mutations and DNA methylation defect define two types of ICF syndrome
    • Jiang YL, Rigolet M, Bourc'his D, Nigon F, Bokesoy I, et al. (2005) DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. Hum Mutat 25 (1): 56-63.
    • (2005) Hum Mutat , vol.25 , Issue.1 , pp. 56-63
    • Jiang, Y.L.1    Rigolet, M.2    Bourc'his, D.3    Nigon, F.4    Bokesoy, I.5
  • 5
    • 33645735015 scopus 로고    scopus 로고
    • Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome
    • Ueda Y, Okano M, Williams C, Chen T, Georgopoulos K, Li E, (2006) Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome. Development 133: 1183-1192.
    • (2006) Development , vol.133 , pp. 1183-1192
    • Ueda, Y.1    Okano, M.2    Williams, C.3    Chen, T.4    Georgopoulos, K.5    Li, E.6
  • 6
    • 1642401844 scopus 로고    scopus 로고
    • Defective B-cell-negative selection and terminal differentiation in the ICF syndrome
    • Blanco-Betancourt CE, Moncla A, Milili M, Jiang YL, Viegas-Pequignot EM, et al. (2004) Defective B-cell-negative selection and terminal differentiation in the ICF syndrome. Blood 103: 2683-2690.
    • (2004) Blood , vol.103 , pp. 2683-2690
    • Blanco-Betancourt, C.E.1    Moncla, A.2    Milili, M.3    Jiang, Y.L.4    Viegas-Pequignot, E.M.5
  • 7
    • 0030969206 scopus 로고    scopus 로고
    • alpha-satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues
    • Miniou P, Jeanpierre M, Bourc'his D, Coutinho Barbosa AC, Blanquet V, et al. (1997) 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.
    • (1997) Hum Genet , vol.99 , pp. 738-745
    • Miniou, P.1    Jeanpierre, M.2    Bourc'his, D.3    Coutinho Barbosa, A.C.4    Blanquet, V.5
  • 9
    • 0034162852 scopus 로고    scopus 로고
    • Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2
    • Kondo T, Bobek MP, Kuick R, Lamb B, Zhu X, et al. (2000) Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2. Hum Mol Genet 9: 597-604.
    • (2000) Hum Mol Genet , vol.9 , pp. 597-604
    • Kondo, T.1    Bobek, M.P.2    Kuick, R.3    Lamb, B.4    Zhu, X.5
  • 10
    • 0034326857 scopus 로고    scopus 로고
    • Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant
    • Hansen RS, Stöger R, Wijmenga C, Stanek AM, Canfield TK, et al. (2000) Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant. Hum Mol Genet 9: 2575-2587.
    • (2000) Hum Mol Genet , vol.9 , pp. 2575-2587
    • Hansen, R.S.1    Stöger, R.2    Wijmenga, C.3    Stanek, A.M.4    Canfield, T.K.5
  • 11
    • 0035667192 scopus 로고    scopus 로고
    • DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes
    • Ehrlich M, Buchanan KL, Tsien F, Jiang G, Sun B, et al. (2001) DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. Hum Mol Genet 10: 2917-2931.
    • (2001) Hum Mol Genet , vol.10 , pp. 2917-2931
    • Ehrlich, M.1    Buchanan, K.L.2    Tsien, F.3    Jiang, G.4    Sun, B.5
  • 12
    • 39749152283 scopus 로고    scopus 로고
    • DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function
    • Jin B, Tao Q, Peng J, Soo HM, Wu W, et al. (2008) DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function. Hum Mol Genet 17: 690-709.
    • (2008) Hum Mol Genet , vol.17 , pp. 690-709
    • Jin, B.1    Tao, Q.2    Peng, J.3    Soo, H.M.4    Wu, W.5
  • 13
    • 42649130058 scopus 로고    scopus 로고
    • ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation
    • Review
    • Ehrlich M, Sanchez C, Shao C, Nishiyama R, Kehrl J, et al. (2008) ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation. Autoimmunity 41: 253-271 Review.
    • (2008) Autoimmunity , vol.41 , pp. 253-271
    • Ehrlich, M.1    Sanchez, C.2    Shao, C.3    Nishiyama, R.4    Kehrl, J.5
  • 15
    • 33749399886 scopus 로고    scopus 로고
    • Mapping of the juxtacentromeric heterochromatin-euchromatin frontier of human chromosome 21
    • Grunau C, Buard J, Brun ME, De Sario A, (2006) Mapping of the juxtacentromeric heterochromatin-euchromatin frontier of human chromosome 21. Genome Research 16: 1198-1207.
    • (2006) Genome Research , vol.16 , pp. 1198-1207
    • Grunau, C.1    Buard, J.2    Brun, M.E.3    de Sario, A.4
  • 16
    • 0141541814 scopus 로고    scopus 로고
    • Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms
    • Brun ME, Ruault M, Ventura M, Roizès G, De Sario A, (2003) Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms. Gene 312: 41-50.
    • (2003) Gene , vol.312 , pp. 41-50
    • Brun, M.E.1    Ruault, M.2    Ventura, M.3    Roizès, G.4    de Sario, A.5
  • 18
    • 0037133565 scopus 로고    scopus 로고
    • Comprehensive analysis of CpG islands in human chromosomes 21 and 22
    • Takai D, Jones PA, (2002) Comprehensive analysis of CpG islands in human chromosomes 21 and 22. Proc Natl Acad Sci U S A 99: 3740-3745.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 3740-3745
    • Takai, D.1    Jones, P.A.2
  • 19
    • 0036927009 scopus 로고    scopus 로고
    • New BAGE (B melanoma antigen) genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 have a cancer/testis expression profile
    • Ruault M, van der Bruggen P, Brun M-E, Boyle S, Roizès G, et al. (2002) New BAGE (B melanoma antigen) genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 have a cancer/testis expression profile. Eur J Hum Genet 10: 833-840.
    • (2002) Eur J Hum Genet , vol.10 , pp. 833-840
    • Ruault, M.1    van der Bruggen, P.2    Brun, M.-E.3    Boyle, S.4    Roizès, G.5
  • 20
    • 0037380764 scopus 로고    scopus 로고
    • BAGE, a gene family generated by juxtacentromeric reshuffling in the Hominidae lineage, is under selective pressure
    • Ruault M, Ventura M, Galtier N, Brun M-E, Archidiacono N, et al. (2003) BAGE, a gene family generated by juxtacentromeric reshuffling in the Hominidae lineage, is under selective pressure. Genomics 81: 391-399.
    • (2003) Genomics , vol.81 , pp. 391-399
    • Ruault, M.1    Ventura, M.2    Galtier, N.3    Brun, M.-E.4    Archidiacono, N.5
  • 21
    • 0035605844 scopus 로고    scopus 로고
    • TPIP: a novel phosphoinositide 3-phosphatase
    • Walker SM, Downes CP, Leslie NR, (2001) TPIP: a novel phosphoinositide 3-phosphatase. Biochem J 360 (Pt 2): 277-283.
    • (2001) Biochem J , vol.360 , Issue.Pt 2 , pp. 277-283
    • Walker, S.M.1    Downes, C.P.2    Leslie, N.R.3
  • 22
    • 32444442787 scopus 로고    scopus 로고
    • Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains
    • Hahn Y, Bera TK, Pastan IH, Lee B, (2006) Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains. Gene 366: 238-245.
    • (2006) Gene , vol.366 , pp. 238-245
    • Hahn, Y.1    Bera, T.K.2    Pastan, I.H.3    Lee, B.4
  • 23
    • 7544227521 scopus 로고    scopus 로고
    • Centromeric chromatin exhibits a histone modification pattern that is distinct from both euchromatin and heterochromatin
    • Sullivan BA, Karpen GH, (2004) Centromeric chromatin exhibits a histone modification pattern that is distinct from both euchromatin and heterochromatin. Nat Struct Mol Biol 11 (11): 1076-83.
    • (2004) Nat Struct Mol Biol , vol.11 , Issue.11 , pp. 1076-1083
    • Sullivan, B.A.1    Karpen, G.H.2
  • 24
    • 68749117667 scopus 로고    scopus 로고
    • DNMT3B interacts with constitutive centromere protein CENP-C to modulate DNA methylation and the histone code at centromeric regions
    • Gopalakrishnan S, Sullivan BA, Trazzi S, Della Valle G, Robertson KD, (2009) DNMT3B interacts with constitutive centromere protein CENP-C to modulate DNA methylation and the histone code at centromeric regions. Hum Mol Genet 18 (17): 3178-93.
    • (2009) Hum Mol Genet , vol.18 , Issue.17 , pp. 3178-3193
    • Gopalakrishnan, S.1    Sullivan, B.A.2    Trazzi, S.3    Della Valle, G.4    Robertson, K.D.5
  • 25
    • 13844266562 scopus 로고    scopus 로고
    • Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteins
    • Gartler SM, Varadarajan KR, Luo P, Canfield TK, Traynor J, et al. (2004) Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteins. BMC Biol 2: 21.
    • (2004) BMC Biol , vol.2 , pp. 21
    • Gartler, S.M.1    Varadarajan, K.R.2    Luo, P.3    Canfield, T.K.4    Traynor, J.5
  • 26
    • 50849099769 scopus 로고    scopus 로고
    • Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions
    • Yehezkel S, Segev Y, Viegas-Péquignot E, Skorecki K, Selig S, (2008) Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions. Hum Mol Genet 17: 2776-2789.
    • (2008) Hum Mol Genet , vol.17 , pp. 2776-2789
    • Yehezkel, S.1    Segev, Y.2    Viegas-Péquignot, E.3    Skorecki, K.4    Selig, S.5
  • 27
    • 9144268924 scopus 로고    scopus 로고
    • Partitioning and plasticity of repressive histone methylation states in mammalian chromatin
    • Peters AH, Kubicek S, Mechtler K, O'Sullivan RJ, Derijck AA, et al. (2003) Partitioning and plasticity of repressive histone methylation states in mammalian chromatin. Mol Cell 12 (6): 1577-89.
    • (2003) Mol Cell , vol.12 , Issue.6 , pp. 1577-1589
    • Peters, A.H.1    Kubicek, S.2    Mechtler, K.3    O'Sullivan, R.J.4    Derijck, A.A.5
  • 28
    • 34249026300 scopus 로고    scopus 로고
    • High-resolution profiling of histone methylations in the human genome
    • Barski A, Cuddapah S, Cui K, Roh TY, Schones DE, et al. (2007) High-resolution profiling of histone methylations in the human genome. Cell 129 (4): 823-37.
    • (2007) Cell , vol.129 , Issue.4 , pp. 823-837
    • Barski, A.1    Cuddapah, S.2    Cui, K.3    Roh, T.Y.4    Schones, D.E.5
  • 29
    • 0037320925 scopus 로고    scopus 로고
    • Ezh2 controls B cell development through histone H3 methylation and Igh rearrangement
    • Su IH, Basavaraj A, Krutchinsky AN, Hobert O, Ullrich A, et al. (2003) Ezh2 controls B cell development through histone H3 methylation and Igh rearrangement. Nat Immunol 4 (2): 124-31.
    • (2003) Nat Immunol , vol.4 , Issue.2 , pp. 124-131
    • Su, I.H.1    Basavaraj, A.2    Krutchinsky, A.N.3    Hobert, O.4    Ullrich, A.5
  • 30
    • 0345059066 scopus 로고    scopus 로고
    • The TPTE gene family: cellular expression, subcellular localization and alternative splicing
    • Tapparel C, Reymond A, Girardet C, Guillou L, Lyle R, et al. (2003) The TPTE gene family: cellular expression, subcellular localization and alternative splicing. Gene 323: 189-199.
    • (2003) Gene , vol.323 , pp. 189-199
    • Tapparel, C.1    Reymond, A.2    Girardet, C.3    Guillou, L.4    Lyle, R.5
  • 31
    • 31544469757 scopus 로고    scopus 로고
    • POTE paralogs are induced and differentially expressed in many cancers
    • Bera TK, Saint Fleur A, Lee Y, Kydd A, Hahn Y, et al. (2006) POTE paralogs are induced and differentially expressed in many cancers. Cancer Res 66: 52-56.
    • (2006) Cancer Res , vol.66 , pp. 52-56
    • Bera, T.K.1    Saint Fleur, A.2    Lee, Y.3    Kydd, A.4    Hahn, Y.5
  • 32
    • 43049128525 scopus 로고    scopus 로고
    • Selective POTE paralogs on chromosome 2 are expressed in human embryonic stem cells
    • Bera TK, Saint Fleur A, Ha D, Yamada M, Lee Y, et al. (2008) Selective POTE paralogs on chromosome 2 are expressed in human embryonic stem cells. Stem Cells Dev 17 (2): 325-332.
    • (2008) Stem Cells Dev , vol.17 , Issue.2 , pp. 325-332
    • Bera, T.K.1    Saint Fleur, A.2    Ha, D.3    Yamada, M.4    Lee, Y.5
  • 33
    • 36849026145 scopus 로고    scopus 로고
    • Expression of POTE protein in human testis detected by novel monoclonal antibodies
    • Ise T, Das S, Nagata S, Maeda H, Lee Y, et al. (2008) Expression of POTE protein in human testis detected by novel monoclonal antibodies. Biochem Biophys Res Commun 365: 603-608.
    • (2008) Biochem Biophys Res Commun , vol.365 , pp. 603-608
    • Ise, T.1    Das, S.2    Nagata, S.3    Maeda, H.4    Lee, Y.5
  • 34
    • 77952695371 scopus 로고    scopus 로고
    • Dnmt3b recruitment through E2F6 transcriptional repressor mediates germ-line gene silencing in murine somatic tissues
    • Velasco G, Hubé F, Rollin J, Neuillet D, Philippe C, et al. (2010) Dnmt3b recruitment through E2F6 transcriptional repressor mediates germ-line gene silencing in murine somatic tissues. Proc Natl Acad Sci U S A 107 (20): 9281-9286.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , Issue.20 , pp. 9281-9286
    • Velasco, G.1    Hubé, F.2    Rollin, J.3    Neuillet, D.4    Philippe, C.5
  • 35
    • 0026546877 scopus 로고
    • A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands
    • Frommer M, McDonald LE, Millar DS, Collis CM, Watt F, et al. (1992) A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands. Proc Natl Acad Sci U S A 89: 1827-1831.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 1827-1831
    • Frommer, M.1    McDonald, L.E.2    Millar, D.S.3    Collis, C.M.4    Watt, F.5
  • 36
    • 0025776579 scopus 로고
    • A sequence assembly and editing program for efficient management of large projects
    • Dear S, Staden R, (1991) A sequence assembly and editing program for efficient management of large projects. Nucleic Acid Res 19: 3907-3911.
    • (1991) Nucleic Acid Res , vol.19 , pp. 3907-3911
    • Dear, S.1    Staden, R.2
  • 37
    • 0034160109 scopus 로고    scopus 로고
    • MethTools-a toolbox to visualize and analyze DNA methylation data
    • Grunau C, Schattevoy R, Mache N, Rosenthal A, (2000) MethTools-a toolbox to visualize and analyze DNA methylation data. Nucleic Acids Res 28: 1053-1058.
    • (2000) Nucleic Acids Res , vol.28 , pp. 1053-1058
    • Grunau, C.1    Schattevoy, R.2    Mache, N.3    Rosenthal, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.