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Volumn 30, Issue 10, 2009, Pages 1449-1459

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD

Author keywords

D4Z4; DNA methylation; Epigenetics; Facioscapulohumeral muscular dystrophy; FSHD; Macrosatellite repeat

Indexed keywords

ARTICLE; CHROMOSOME 4; DNA METHYLATION; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENETIC EPIGENESIS; GENETICS; HAPLOTYPE; HUMAN; MUSCLE CONTRACTION; PATHOPHYSIOLOGY;

EID: 70450222400     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21091     Document Type: Article
Times cited : (158)

References (47)
  • 2
    • 48949102889 scopus 로고    scopus 로고
    • DXZ4 chromatin adopts an opposing conformation to that of the surrounding chromosome and acquires a novel inactive X-specific role involving CTCF and antisense transcripts
    • Chadwick BP. 2008. DXZ4 chromatin adopts an opposing conformation to that of the surrounding chromosome and acquires a novel inactive X-specific role involving CTCF and antisense transcripts. Genome Res 18:1259-1269.
    • (2008) Genome Res , vol.18 , pp. 1259-1269
    • Chadwick, B.P.1
  • 3
    • 33749605124 scopus 로고    scopus 로고
    • Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes
    • Celegato B, Capitanio D, Pescatori M, Romualdi C, Pacchioni B, Cagnin S, Vigano A, Colantoni L, Begum S, Ricci E, Wait R, Lanfranchi G, Gelfi C. 2006. Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes. Proteomics 6:5303-5321.
    • (2006) Proteomics , vol.6 , pp. 5303-5321
    • Celegato, B.1    Capitanio, D.2    Pescatori, M.3    Romualdi, C.4    Pacchioni, B.5    Cagnin, S.6    Vigano, A.7    Colantoni, L.8    Begum, S.9    Ricci, E.10    Wait, R.11    Lanfranchi, G.12    Gelfi, C.13
  • 6
    • 0029041708 scopus 로고
    • Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter
    • Deidda G, Cacurri S, Grisanti P, Vigneti E, Piazzo N, Felicetti L. 1995. Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter. Eur J Hum Genet 3:155-167.
    • (1995) Eur J Hum Genet , vol.3 , pp. 155-167
    • Deidda, G.1    Cacurri, S.2    Grisanti, P.3    Vigneti, E.4    Piazzo, N.5    Felicetti, L.6
  • 11
    • 0026865003 scopus 로고
    • A novel GC-rich human macrosatellite VNTR in Xq24 is differentially methylated on active and inactive X chromosomes
    • Giacalone J, Friedes J, Francke U. 1992. A novel GC-rich human macrosatellite VNTR in Xq24 is differentially methylated on active and inactive X chromosomes. Nat Genet 1:137-143.
    • (1992) Nat Genet , vol.1 , pp. 137-143
    • Giacalone, J.1    Friedes, J.2    Francke, U.3
  • 12
    • 0032533273 scopus 로고    scopus 로고
    • Human megasatellite DNA RS447: copy-number polymorphisms and interspecies conservation
    • Gondo Y, Okada T, Matsuyama N, Saitoh Y, Yanagisawa Y, Ikeda JE. 1998. Human megasatellite DNA RS447: copy-number polymorphisms and interspecies conservation. Genomics 54:39-49.
    • (1998) Genomics , vol.54 , pp. 39-49
    • Gondo, Y.1    Okada, T.2    Matsuyama, N.3    Saitoh, Y.4    Yanagisawa, Y.5    Ikeda, J.E.6
  • 15
    • 0033572233 scopus 로고    scopus 로고
    • Striking bimodal methylation of the repeat unit of the tandem array encoding human U2 snRNA (the RNU2 locus)
    • Jiang C, Liao D. 1999. Striking bimodal methylation of the repeat unit of the tandem array encoding human U2 snRNA (the RNU2 locus). Genomics 62:508-518.
    • (1999) Genomics , vol.62 , pp. 508-518
    • Jiang, C.1    Liao, D.2
  • 16
    • 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
    • Jiang G, Yang F, Van Overveld PG, Vedanarayanan V, van der Maarel S, Ehrlich M. 2003. 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) Hum Mol Genet , vol.12 , pp. 2909-2921
    • Jiang, G.1    Yang, F.2    Van Overveld, P.G.3    Vedanarayanan, V.4    van der Maarel, S.5    Ehrlich, M.6
  • 19
    • 16844364725 scopus 로고    scopus 로고
    • Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle
    • Laoudj-Chenivesse D, Carnac G, Bisbal C, Hugon G, Bouillot S, Desnuelle C, Vassetzky Y, Fernandez A. 2005. Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle. J Mol Med 83:216-224.
    • (2005) J Mol Med , vol.83 , pp. 216-224
    • Laoudj-Chenivesse, D.1    Carnac, G.2    Bisbal, C.3    Hugon, G.4    Bouillot, S.5    Desnuelle, C.6    Vassetzky, Y.7    Fernandez, A.8
  • 25
    • 0031033604 scopus 로고    scopus 로고
    • Concerted evolution of the tandemly repeated genes encoding human U2 snRNA (the RNU2 locus) involves rapid intrachromosomal homogenization and rare interchromosomal gene conversion
    • Liao D, Pavelitz T, Kidd JR, Kidd KK, Weiner AM. 1997. Concerted evolution of the tandemly repeated genes encoding human U2 snRNA (the RNU2 locus) involves rapid intrachromosomal homogenization and rare interchromosomal gene conversion. EMBO J 16:588-598.
    • (1997) EMBO J , vol.16 , pp. 588-598
    • Liao, D.1    Pavelitz, T.2    Kidd, J.R.3    Kidd, K.K.4    Weiner, A.M.5
  • 26
    • 0029113034 scopus 로고
    • The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes
    • Lyle R, Wright TJ, Clark LN, Hewitt JE. 1995. The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics 28:389-397.
    • (1995) Genomics , vol.28 , pp. 389-397
    • Lyle, R.1    Wright, T.J.2    Clark, L.N.3    Hewitt, J.E.4
  • 27
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 28
    • 33847234593 scopus 로고    scopus 로고
    • Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy
    • Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R. 2007. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 68:569-577.
    • (2007) Neurology , vol.68 , pp. 569-577
    • Osborne, R.J.1    Welle, S.2    Venance, S.L.3    Thornton, C.A.4    Tawil, R.5
  • 30
    • 38349081152 scopus 로고    scopus 로고
    • Satellite DNAs between selfishness and functionality: structure, genomics and evolution of tandem repeats in centromeric (hetero)chromatin
    • Plohl M, Luchetti A, Mestrovic N, Mantovani B. 2008. Satellite DNAs between selfishness and functionality: structure, genomics and evolution of tandem repeats in centromeric (hetero)chromatin. Gene 409:72-82.
    • (2008) Gene , vol.409 , pp. 72-82
    • Plohl, M.1    Luchetti, A.2    Mestrovic, N.3    Mantovani, B.4
  • 31
    • 22844457491 scopus 로고    scopus 로고
    • DNA methylation and human disease
    • Robertson KD. 2005. DNA methylation and human disease. Nat Rev Genet 6:597-610.
    • (2005) Nat Rev Genet , vol.6 , pp. 597-610
    • Robertson, K.D.1
  • 32
    • 0034253950 scopus 로고    scopus 로고
    • The RS447 human megasatellite tandem repetitive sequence encodes a novel deubiquitinating enzyme with a functional promoter
    • Saitoh Y, Miyamoto N, Okada T, Gondo Y, Showguchi-Miyata J, Hadano S, Ikeda JE. 2000. The RS447 human megasatellite tandem repetitive sequence encodes a novel deubiquitinating enzyme with a functional promoter. Genomics 67:291-300.
    • (2000) Genomics , vol.67 , pp. 291-300
    • Saitoh, Y.1    Miyamoto, N.2    Okada, T.3    Gondo, Y.4    Showguchi-Miyata, J.5    Hadano, S.6    Ikeda, J.E.7
  • 36
    • 0029827344 scopus 로고    scopus 로고
    • Evidence for subtelomeric exchange of 3 3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1
    • van Deutekom JC, Bakker E, Lemmers RJ, van der Wielen MJ, Bik E, Hofker MH, Padberg GW, Frants RR. 1996. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Mol Genet 5:1997-2003.
    • (1996) Hum Mol Genet , vol.5 , pp. 1997-2003
    • van Deutekom, J.C.1    Bakker, E.2    Lemmers, R.J.3    van der Wielen, M.J.4    Bik, E.5    Hofker, M.H.6    Padberg, G.W.7    Frants, R.R.8
  • 45
    • 3042527487 scopus 로고    scopus 로고
    • Cytogenetic and immuno-FISH analysis of the 4q subtelomeric region, which is associated with facioscapulohumeral muscular dystrophy
    • Yang F, Shao C, Vedanarayanan V, Ehrlich M. 2004. Cytogenetic and immuno-FISH analysis of the 4q subtelomeric region, which is associated with facioscapulohumeral muscular dystrophy. Chromosoma 112:350-359.
    • (2004) Chromosoma , vol.112 , pp. 350-359
    • Yang, F.1    Shao, C.2    Vedanarayanan, V.3    Ehrlich, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.