메뉴 건너뛰기




Volumn 109, Issue 1, 2010, Pages 232-242

Heterochromatin dysregulation in human diseases

Author keywords

Cancer; Epigenetic therapy; Epigenetics; FRDA; FSHD; Heterochromatin

Indexed keywords

ANIMAL; DROSOPHILA; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; FRIEDREICH ATAXIA; GENE SILENCING; GENERAL ASPECTS OF DISEASE; GENETIC EPIGENESIS; GENETICS; HAPPY PUPPET SYNDROME; HETEROCHROMATIN; HUMAN; METABOLISM; MOUSE; NEOPLASM; PRADER WILLI SYNDROME; REVIEW; DISEASES; NEOPLASMS;

EID: 77954325930     PISSN: 87507587     EISSN: 15221601     Source Type: Journal    
DOI: 10.1152/japplphysiol.00053.2010     Document Type: Review
Times cited : (32)

References (48)
  • 1
    • 70749158525 scopus 로고    scopus 로고
    • Whole chromosome instability caused by Bubl insufficiency drives tumorigenesis through tumor suppressor gene loss of heterozygosity
    • Baker DJ, Jin F, Jeganathan KB, van Deursen JM. Whole chromosome instability caused by Bubl insufficiency drives tumorigenesis through tumor suppressor gene loss of heterozygosity. Cancer Cell 16: 475-486, 2009.
    • (2009) Cancer Cell , vol.16 , pp. 475-486
    • Baker, D.J.1    Jin, F.2    Jeganathan, K.B.3    Van Deursen, J.M.4
  • 2
    • 34249026300 scopus 로고    scopus 로고
    • High-resolution profiling of histone methylations in the human genome
    • DOI 10.1016/j.cell.2007.05.009, PII S0092867407006009
    • Barski A, Cuddapah S, Cui K, Roh TY, Schones DE, Wang Z, Wei G, Chepelev 1, Zhao K. High-resolution profiling of histone methylations in the human, genome. Cell 129: 823-837, 2007. (Pubitemid 46802390)
    • (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    Wang, Z.6    Wei, G.7    Chepelev, I.8    Zhao, K.9
  • 3
    • 31344466008 scopus 로고    scopus 로고
    • DNA methylation and gene silencing in cancer
    • Baylin SB. DNA methylation and gene silencing in cancer. Nat Clin Pract Oncol 2, Suppl 1: S4-S11, 2005.
    • (2005) Nat Clin Pract Oncol , vol.2 , Issue.SUPPL.. 1
    • Baylin, S.B.1
  • 4
    • 0031941447 scopus 로고    scopus 로고
    • The GAA triplet-repeat expansion in friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
    • DOI 10.1086/301680
    • Bidichandani SI, Ashizawa T, Patel PI. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet 62: 111-121, 1998. (Pubitemid 28093840)
    • (1998) American Journal of Human Genetics , vol.62 , Issue.1 , pp. 111-121
    • Bidichandani, S.I.1    Ashizawa, T.2    Patel, P.I.3
  • 5
    • 69149087644 scopus 로고    scopus 로고
    • Ginelli E. Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation
    • Bodega B, Ramirez GD, Grosser F, Cheli S, Brunelli S, Mora M, Meneveri R, Marozzi A, Mueller S, Battaglioli E, Ginelli E. Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation. BMC Biol 71: 41, 2009.
    • (2009) BMC Biol , vol.71 , pp. 41
    • Bodega, B.1    Ramirez, G.D.2    Grosser, F.3    Cheli, S.4    Brunelli, S.5    Mora, M.6    Meneveri, R.7    Marozzi, A.8    Mueller, S.9    Battaglioli, E.10
  • 6
    • 4544223707 scopus 로고    scopus 로고
    • Meiotic catastrophe and retrotransposon reactivation in male germ cells lacking Dnmt3L
    • Bourc'his D, Bestor TH. Meiotic catastrophe and retrotransposon reactivation in male germ cells lacking Dnmt3L. Nature 43.1: 96-99, 2004.
    • (2004) Nature , vol.43 , Issue.1 , pp. 96-99
    • Bourc'His, D.1    Bestor, T.H.2
  • 8
    • 0033396274 scopus 로고    scopus 로고
    • A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
    • DOI 10.1007/s004390051160
    • Buiting K, Lieh C, Cottrell S, Barnicoat A, Horsthemke B. A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. Hum Genet 105: 665-666, 1999. (Pubitemid 30026047)
    • (1999) Human Genetics , vol.105 , Issue.6 , pp. 665-666
    • Buiting, K.1    Lich, C.2    Cottrell, S.3    Barnicoat, A.4    Horsthemke, B.5
  • 9
    • 77249087062 scopus 로고    scopus 로고
    • Genomic imprinting disorders in humans: A mini-review
    • Butler MG. Genomic imprinting disorders in humans: a mini-review. J Assist Reprod Genet 26: 477-486, 2009.
    • (2009) J Assist Reprod Genet , vol.26 , pp. 477-486
    • Butler, M.G.1
  • 12
    • 72949114887 scopus 로고    scopus 로고
    • Leukaemogenesis: More than mutant genes
    • Chen J, Odenike O, Rowley JD. Leukaemogenesis: more than mutant genes. Nat Rev Cancer 10: 23-36, 2010.
    • (2010) Nat Rev Cancer , vol.10 , pp. 2336
    • Chen, J.1    Odenike, O.2    Rowley, J.D.3
  • 13
    • 27644525713 scopus 로고    scopus 로고
    • Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF
    • DOI 10.1016/j.molcel.2005.09.002, PII S1097276505015996
    • Cho DH, Thienes CP, Mahoney SE, Analau E, Filippova GN, Tapscott SJ. Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Mol Cell 20: 483-489, 2005. (Pubitemid 41572304)
    • (2005) Molecular Cell , vol.20 , Issue.3 , pp. 483-489
    • Cho, D.H.1    Thienes, C.P.2    Mahoney, S.E.3    Analau, E.4    Filippova, G.N.5    Tapscott, S.J.6
  • 16
    • 70949099119 scopus 로고    scopus 로고
    • Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription
    • De Biase I, Chutake YK, Rindler PM, Bidichandani SI. Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription. PLoS One 4: e7914, 2009.
    • (2009) PLoS One , vol.4
    • De Biase, I.1    Chutake, Y.K.2    Rindler, P.M.3    Bidichandani, S.I.4
  • 17
    • 1942471150 scopus 로고    scopus 로고
    • Epigenetic regulation of mammalian genomic imprinting
    • DOI 10.1016/j.gde.2004.01.005, PII S0959437X04000206
    • Delaval K, Feil R. Epigenetic regulation, of mammalian genomic imprinting. Curr Opin Genet Dev 14: 188-195, 2004. (Pubitemid 38520147)
    • (2004) Current Opinion in Genetics and Development , vol.14 , Issue.2 , pp. 188-195
    • Delaval, K.1    Feil, R.2
  • 19
    • 10044244766 scopus 로고    scopus 로고
    • Su(var) genes regulate the balance between euchromatin and heterochromatin in Drosophila
    • DOI 10.1101/gad.323004
    • Ebert A, Schotta G, Lein S, Kubicek S, Krauss V, Jenuwein T, Reuter G. Su(var) genes regulate the balance between euchromatin and heterochromatin in Drosophila. Genes Dev 18: 2973-2983, 2004. (Pubitemid 39602315)
    • (2004) Genes and Development , vol.18 , Issue.23 , pp. 2973-2983
    • Ebert, A.1    Schotta, G.2    Lein, S.3    Kubicek, S.4    Krauss, V.5    Jenuwein, T.6    Reuter, G.7
  • 24
    • 0037047439 scopus 로고    scopus 로고
    • Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle
    • Gabellini D, Green MR, Tupler R. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110: 339-348, 2002.
    • (2002) Cell , vol.110 , pp. 339-348
    • Gabellini, D.1    Green, M.R.2    Tupler, R.3
  • 27
    • 47349107760 scopus 로고    scopus 로고
    • ATM signaling facilitates repair of DNA double-strand breaks associated with heterochromatin
    • DOI 10.1016/j.molcel.2008.05.017, PII S109727650800395X
    • Goodarzi AA, Noon AT, Deckbar D, Ziv Y, Shiloh Y, Lobrich M, Jeggo PA. ATM signaling facilitates repair of DNA double-strand breaks associated with heterochromatin. Mol Cell 31: 167-177, 2008. (Pubitemid 352001394)
    • (2008) Molecular Cell , vol.31 , Issue.2 , pp. 167-177
    • Goodarzi, A.A.1    Noon, A.T.2    Deckbar, D.3    Ziv, Y.4    Shiloh, Y.5    Lobrich, M.6    Jeggo, P.A.7
  • 28
    • 34250830900 scopus 로고    scopus 로고
    • Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
    • DOI 10.1093/nar/gkm271
    • Greene E, Mahishi L, Entezam A, Kumari D, Usdin K. Repeatinduced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res 35: 3383-3390, 2007. (Pubitemid 47073601)
    • (2007) Nucleic Acids Research , vol.35 , Issue.10 , pp. 3383-3390
    • Greene, E.1    Mahishi, L.2    Entezam, A.3    Kumari, D.4    Usdin, K.5
  • 29
    • 34249304470 scopus 로고    scopus 로고
    • Transcription and RNA interference in the formation of heterochromatin
    • DOI 10.1038/nature05914, PII NATURE05914
    • Grewal SI, Elgin SC. Transcription and RNA interference in the formation of heterochromatin. Nature 447: 399-406, 2007. (Pubitemid 46816745)
    • (2007) Nature , vol.447 , Issue.7143 , pp. 399-406
    • Grewal, S.I.S.1    Elgin, S.C.R.2
  • 30
    • 34547626629 scopus 로고    scopus 로고
    • Promoter-associated RNA is required for RNA-directed transcriptional gene silencing in human cells
    • Han J, Kim D, Morris KV. Promoter-associated RNA is required for RNA-directed transcriptional gene silencing in human cells. Proc Natl Acad Sci USA 104: 12422-12427, 2007.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 12422-12427
    • Han, J.1    Kim, D.2    Morris, K.V.3
  • 31
    • 66349093652 scopus 로고    scopus 로고
    • Muscular dystrophy candidate gene ERG1 is critical for muscle development
    • Hanel ML, Wuebbles RD, Jones PL. Muscular dystrophy candidate gene ERG1 is critical for muscle development. Dev Dyn 238: 1502-1512, 2009.
    • (2009) Dev Dyn , vol.238 , pp. 1502-1512
    • Hanel, M.L.1    Wuebbles, R.D.2    Jones, P.L.3
  • 32
    • 0019782799 scopus 로고
    • Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
    • Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104: 589-620, 1981.
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 33
    • 66249108936 scopus 로고    scopus 로고
    • Promoter targeted small RNAs induce long-term, transcriptional gene silencing in human cells
    • Hawkins PG, Santoso S, Adams C, Anest V, Morris KV. Promoter targeted small RNAs induce long-term, transcriptional gene silencing in human cells. Nucleic Acids Res 37: 2984-2995, 2009.
    • (2009) Nucleic Acids Res , vol.37 , pp. 2984-2995
    • Hawkins, P.G.1    Santoso, S.2    Adams, C.3    Anest, V.4    Morris, K.V.5
  • 39
    • 0345227304 scopus 로고    scopus 로고
    • Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q
    • DOI 10.1093/hmg/ddg323
    • Jiang G, Yang F, van Overveld PG, Vedanarayanan V, van der Maarel S, Ehrlich M. Testing the position-effect variegation, hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum Mol Genet 12: 2909-2921, 2003. (Pubitemid 37442019)
    • (2003) Human Molecular Genetics , vol.12 , Issue.22 , pp. 2909-2921
    • Jiang, G.1    Yang, F.2    Van Overveld, P.G.M.3    Vedanarayanan, V.4    Van Der Maarel, S.5    Ehrlich, M.6
  • 40
    • 9444262002 scopus 로고    scopus 로고
    • Establishing the epigenetic status of the Prader-Willi/Angelman imprinting center in the gametes and embryo
    • DOI 10.1093/hmg/ddh290
    • Kantor B, Kaufman Y, Makedonski K, Razin A, Shemer R. Establishing the epigenetic status of the Prader-Willi/Angelman imprinting center in the gametes and embryo. Hum Mol Genet 13: 2767-2779, 2004. (Pubitemid 39562541)
    • (2004) Human Molecular Genetics , vol.13 , Issue.22 , pp. 2767-2779
    • Kantor, B.1    Kaufman, Y.2    Makedonski, K.3    Razin, A.4    Shemer, R.5
  • 41
    • 67649852539 scopus 로고    scopus 로고
    • Protein-binding elements establish in the oocyte the primary imprint of the Prader-Willi/ Angelman syndromes domain
    • Kaufman Y, Heled M, Perk J, Razin A, Shemer R. Protein-binding elements establish in the oocyte the primary imprint of the Prader-Willi/ Angelman syndromes domain. Proc Natl Acad Sci USA 106: 10242-10247, 2009.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 10242-10247
    • Kaufman, Y.1    Heled, M.2    Perk, J.3    Razin, A.4    Shemer, R.5
  • 42
    • 33748368912 scopus 로고    scopus 로고
    • Argonaute-1 directs siRNA-mediated transcriptional gene silencing in human cells
    • DOI 10.1038/nsmb1142, PII NSMB1142
    • Kim DH, Villeneuve LM, Morris KV, Rossi JJ. Argonaute-1 directs siRNA-mediated transcriptional gene silencing in human cells. Nat Struct Mol Biol 13: 793-797, 2006. (Pubitemid 44338773)
    • (2006) Nature Structural and Molecular Biology , vol.13 , Issue.9 , pp. 793-797
    • Kim, D.H.1    Villeneuve, L.M.2    Morris, K.V.3    Rossi, J.J.4
  • 44
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • DOI 10.1038/ng0197-70
    • Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15: 70-73, 1997. (Pubitemid 27014952)
    • (1997) Nature Genetics , vol.15 , Issue.1 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 45
    • 0032984212 scopus 로고    scopus 로고
    • Facioscapulohumeral dystrophy
    • Kissel JT. Facioscapulohumeral dystrophy. Semin Neurol 19: 35-43, 1999.
    • (1999) Semin Neurol , vol.19 , pp. 35-43
    • Kissel, J.T.1
  • 47
    • 10044296220 scopus 로고    scopus 로고
    • Evidence for histone eviction in trans upon induction of the yeast PHO5 promoter?
    • DOI 10.1128/MCB.24.24.10965-10974.2004
    • Korber P, Luckenbach T, Blaschke D, Horz W. Evidence for histone eviction in trans upon induction of the yeast PHO5 promoter. Mol Cell Biol 24: 10965-10974, 2004. (Pubitemid 39603150)
    • (2004) Molecular and Cellular Biology , vol.24 , Issue.24 , pp. 10965-10974
    • Korber, P.1    Luckenbach, T.2    Blaschke, D.3    Horz, W.4
  • 48
    • 33847077134 scopus 로고    scopus 로고
    • Ribonuclease Dicer Cleaves Triplet Repeat Hairpins into Shorter Repeats that Silence Specific Targets
    • DOI 10.1016/j.molcel.2007.01.031, PII S1097276507000548
    • Krol J, Fiszer A, Mykowska A, Sobczak K, de Mezer M, Krzyzosiak WJ. Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets. Mol Cell 25: 575-586, 2007. (Pubitemid 46274449)
    • (2007) Molecular Cell , vol.25 , Issue.4 , pp. 575-586
    • Krol, J.1    Fiszer, A.2    Mykowska, A.3    Sobczak, K.4    De Mezer, M.5    Krzyzosiak, W.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.