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Volumn 20, Issue 10, 2012, Pages 1044-1050

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations

Author keywords

DNA methylation; DNA replication; ICF syndrome

Indexed keywords

DNA METHYLTRANSFERASE 3B;

EID: 84866562690     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.41     Document Type: Article
Times cited : (20)

References (31)
  • 1
    • 65449178609 scopus 로고    scopus 로고
    • Replication timing as an epigenetic mark
    • Hiratani I, Gilbert DM: Replication timing as an epigenetic mark. Epigenetics 2009; 4: 93-97.
    • (2009) Epigenetics , vol.4 , pp. 93-97
    • Hiratani, I.1    Gilbert, D.M.2
  • 2
    • 77649235074 scopus 로고    scopus 로고
    • Programming DNA replication origins and chromosome organization
    • Cayrou C, Coulombe P, Méchali M: Programming DNA replication origins and chromosome organization. Chromosome Res 2010; 18: 137-145.
    • (2010) Chromosome Res , vol.18 , pp. 137-145
    • Cayrou, C.1    Coulombe, P.2    Méchali, M.3
  • 3
    • 61349201535 scopus 로고    scopus 로고
    • Establishing the program of origin firing during S phase in fission yeast
    • Wu PY, Nurse P: Establishing the program of origin firing during S phase in fission yeast. Cell 2009; 136: 852-864.
    • (2009) Cell , vol.136 , pp. 852-864
    • Wu, P.Y.1    Nurse, P.2
  • 4
    • 78650132334 scopus 로고    scopus 로고
    • Developmental control of late replication and S phase length
    • Shermoen AW, McCleland ML, O'Farrell PH: Developmental control of late replication and S phase length. Curr Biol 2010; 20: 2067-2077.
    • (2010) Curr Biol , vol.20 , pp. 2067-2077
    • Shermoen, A.W.1    McCleland, M.L.2    O'Farrell, P.H.3
  • 5
    • 70350619186 scopus 로고    scopus 로고
    • Clinical and molecular overview of inherited disorders resulting from epigenomic dysregulation
    • De Sario A: Clinical and molecular overview of inherited disorders resulting from epigenomic dysregulation. Eur J Med Genet 2009; 52: 363-372.
    • (2009) Eur J Med Genet , vol.52 , pp. 363-372
    • De Sario, A.1
  • 6
    • 79958846467 scopus 로고    scopus 로고
    • Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2
    • de Greef JC, Wang J, Balog J et al: Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet 2011; 88: 796-804.
    • (2011) Am J Hum Genet , vol.88 , pp. 796-804
    • De Greef, J.C.1    Wang, J.2    Balog, J.3
  • 7
    • 84867592763 scopus 로고    scopus 로고
    • A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2
    • e-pub ahead of print 5 October 2011; doi: 10.1111/j.1399-0004.2011.01783. x
    • Chouery E, Abou-Ghoch J, Corbani S et al: A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Clin Genet 2011; e-pub ahead of print 5 October 2011; doi: 10.1111/j.1399-0004.2011.01783.x.
    • (2011) Clin Genet
    • Chouery, E.1    Abou-Ghoch, J.2    Corbani, S.3
  • 9
    • 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: Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions. Hum Mol Genet 2008; 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
  • 11
    • 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 et al: Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant. Hum Mol Genet 2000; 9: 2575-2587.
    • (2000) Hum Mol Genet , vol.9 , pp. 2575-2587
    • Hansen, R.S.1    Stöger, R.2    Wijmenga, C.3
  • 12
    • 79955782459 scopus 로고    scopus 로고
    • Heterochromatic genes undergo epigenetic changes and escape silencing in Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome
    • Brun ME, Lana E, Rivals I et al: Heterochromatic genes undergo epigenetic changes and escape silencing in Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome. PLoS One 2011; 6: e19464.
    • (2011) PLoS One , vol.6
    • Brun, M.E.1    Lana, E.2    Rivals, I.3
  • 14
    • 42649130058 scopus 로고    scopus 로고
    • ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation
    • DOI 10.1080/08916930802024202, PII 792387566
    • Ehrlich M, Sanchez C, Shao C et al: ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation. Autoimmunity 2008; 41: 253-271. (Pubitemid 351593856)
    • (2008) Autoimmunity , vol.41 , Issue.4 , pp. 253-271
    • Ehrlich, M.1    Sanchez, C.2    Shao, C.3    Nishiyama, R.4    Kehrl, J.5    Kuick, R.6    Kubota, T.7    Hanash, S.8
  • 15
    • 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
    • DOI 10.1093/hmg/ddm341
    • Jin B, Tao Q, Peng J et al: 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 2008; 17: 690-709. (Pubitemid 351292258)
    • (2008) Human Molecular Genetics , vol.17 , Issue.5 , pp. 690-709
    • Jin, B.1    Tao, Q.2    Peng, J.3    Soo, H.M.4    Wu, W.5    Ying, J.6    Fields, C.R.7    Delmas, A.I.8    Liu, X.9    Qiu, J.10    Robertson, K.D.11
  • 16
    • 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 et al: Dnmt3b recruitment through E2F6 transcriptional repressor mediates germ-line gene silencing in murine somatic tissues. Proc Natl Acad Sci USA 2010; 107: 9281-9286.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 9281-9286
    • Velasco, G.1    Hubé, F.2    Rollin, J.3
  • 17
    • 0035170113 scopus 로고    scopus 로고
    • Satellite 2 methylation patterns in normal and ICF syndrome cells and association of hypomethylation with advanced replication
    • DOI 10.1007/s004390100590
    • Hassan KM, Norwood T, Gimelli G, Gartler SM, Hansen RS: Satellite 2 methylation patterns in normal and ICF syndrome cells and association of hypomethylation with advanced replication. Hum Genet 2001; 109: 452-462. (Pubitemid 33064524)
    • (2001) Human Genetics , vol.109 , Issue.4 , pp. 452-462
    • Hassan, A.K.1    Norwood, T.2    Gimelli, G.3    Gartler, S.M.4    Hansen, S.R.5
  • 19
    • 0035312721 scopus 로고    scopus 로고
    • + yeast strains
    • Lengronne A, Pasero P, Bensimon A, Schwob E: Monitoring S phase progression globally and locally using BrdU incorporation in TK(+) yeast strains. Nucleic Acids Res 2001; 29: 1433-1442. (Pubitemid 32288489)
    • (2001) Nucleic Acids Research , vol.29 , Issue.7 , pp. 1433-1442
    • Lengronne, A.1    Pasero, P.2    Bensimon, A.3    Schwob, E.4
  • 21
    • 0032559794 scopus 로고    scopus 로고
    • Replicon clusters are stable units of chromosome structure: Evidence that nuclear organization contributes to the efficient activation and propagation of S phase in human cells
    • DOI 10.1083/jcb.140.6.1285
    • Jackson DA, Pombo A: Replicon clusters are stable units of chromosome structure: evidence that nuclear organization contributes to the efficient activation and propagation of S phase in human cells. J Cell Biol 1998; 140: 1285-1295. (Pubitemid 28152979)
    • (1998) Journal of Cell Biology , vol.140 , Issue.6 , pp. 1285-1295
    • Jackson, D.A.1    Pombo, A.2
  • 22
    • 34547814092 scopus 로고    scopus 로고
    • Replication fork velocities at adjacent replication origins are coordinately modified during DNA replication in human cells
    • DOI 10.1091/mbc.E06-08-0689
    • Conti C, Saccà B, Herrick J, Lalou C, Pommier Y, Bensimon A: Replication fork velocities at adjacent replication origins are coordinately modified during DNA replication in human cells. Mol Biol Cell 2007; 18: 3059-3067. (Pubitemid 47235311)
    • (2007) Molecular Biology of the Cell , vol.18 , Issue.8 , pp. 3059-3067
    • Conti, C.1    Sacca, B.2    Herrick, J.3    Lalou, C.4    Pommier, Y.5    Bensimon, A.6
  • 23
    • 52949092763 scopus 로고    scopus 로고
    • Replication fork movement sets chromatin loop size and origin choice in mammalian cells
    • Courbet S, Gay S, Arnoult N et al: Replication fork movement sets chromatin loop size and origin choice in mammalian cells. Nature 2008; 455: 557-560.
    • (2008) Nature , vol.455 , pp. 557-560
    • Courbet, S.1    Gay, S.2    Arnoult, N.3
  • 24
    • 0029089444 scopus 로고
    • Factors affecting the timing and imprinting of replication on a mammalian chromosome
    • Bickmore WA, Carothers AD: Factors affecting the timing and imprinting of replication on a mammalian chromosome. J Cell Sci 1995; 108: 2801-2809.
    • (1995) J Cell Sci , vol.108 , pp. 2801-2809
    • Bickmore, W.A.1    Carothers, A.D.2
  • 25
    • 78649459828 scopus 로고    scopus 로고
    • Targets and dynamics of promoter DNA methylation during early mouse development
    • Borgel J, Guibert S, Li Y et al: Targets and dynamics of promoter DNA methylation during early mouse development. Nat Genet 2010; 42: 1093-1100.
    • (2010) Nat Genet , vol.42 , pp. 1093-1100
    • Borgel, J.1    Guibert, S.2    Li, Y.3
  • 26
    • 34248167741 scopus 로고    scopus 로고
    • Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)
    • Ehrlich M, Jackson K, Weemaes C: Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF). Orphanet J Rare Dis 2006; 1: 2.
    • (2006) Orphanet J Rare Dis , vol.1 , pp. 2
    • Ehrlich, M.1    Jackson, K.2    Weemaes, C.3
  • 28
    • 33745129777 scopus 로고    scopus 로고
    • Mechanisms of chromosome instability in cancers
    • DOI 10.1016/j.critrevonc.2006.02.005, PII S1040842806000412
    • Jefford CE, Irminger-Finger I: Mechanisms of chromosome instability in cancers. Crit Rev Oncol Hematol 2006; 59: 1-14. (Pubitemid 43903279)
    • (2006) Critical Reviews in Oncology/Hematology , vol.59 , Issue.1 , pp. 1-14
    • Jefford, C.E.1    Irminger-Finger, I.2
  • 30
    • 20444380748 scopus 로고    scopus 로고
    • Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome
    • DOI 10.1016/j.cell.2005.05.015, PII S0092867405004940
    • Sangrithi MN, Bernal JA, Madine M et al: Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. Cell 2005; 121: 887-898. (Pubitemid 40806420)
    • (2005) Cell , vol.121 , Issue.6 , pp. 887-898
    • Sangrithi, M.N.1    Bernal, J.A.2    Madine, M.3    Philpott, A.4    Lee, J.5    Dunphy, W.G.6    Venkitaraman, A.R.7
  • 31
    • 57349149434 scopus 로고    scopus 로고
    • Genome-wide studies highlight indirect links between human replication origins and gene regulation
    • Cadoret JC, Meisch F, Hassan-Zadeh V et al: Genome-wide studies highlight indirect links between human replication origins and gene regulation. Proc Natl Acad Sci USA 2008; 105: 15837-15842.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 15837-15842
    • Cadoret, J.C.1    Meisch, F.2    Hassan-Zadeh, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.