Epigenetic mechanisms of facioscapulohumeral muscular dystrophy

被引：46

作者：

de Greef, Jessica C. ^{[1
]}

Frants, Rune R. ^{[1
]}

van der Maarel, Silvere M. ^{[1
]}

机构：

[1] Leiden Univ, Med Ctr, Dept Human Genet, Ctr Human & Clin Genet, NL-2300 RC Leiden, Netherlands

来源：

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS | 2008年 / 647卷 / 1-2期

基金：

美国国家卫生研究院;

关键词：

FSHD; Muscular dystrophy; D4Z4; repeat; Epigenetics; Chromatin; Nuclear organization;

D O I：

10.1016/j.mrfmmm.2008.07.011

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Facioscapulohumeral muscular dystrophy (FSHD) seems to be caused by a complex epigenetic disease mechanism as a result of contraction of the polymorphic macrosatellite repeat D4Z4 on chromosome 4qter. Currently, the exact mechanism causing the FSHD phenotype is still not elucidated. In this review, we discuss the genetic and epigenetic changes observed in patients with FSHD and the possible disease mechanisms that may be associated with FSHD pathogenesis. (c) 2008 Elsevier B.V. All rights reserved.

引用

页码：94 / 102

页数：9

共 91 条

[21] Histone and chromatin cross-talk [J].

Fischle, W ;

Wang, YM ;

Allis, CD .

CURRENT OPINION IN CELL BIOLOGY, 2003, 15 (02) :172-183

[22] Methyl-CpG binding domain 1 (MBD1) interacts with the Suv39h1-HP1 heterochromatic complex for DNA methylation-based transcriptional repression [J].

Fujita, N ;

Watanabe, S ;

Ichimura, T ;

Tsuruzoe, S ;

Shinkai, Y ;

Tachibana, M ;

Chiba, T ;

Nakao, M .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (26) :24132-24138

[23] Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1 [J].

Gabellini, D ;

D'Antona, G ;

Moggio, M ;

Prelle, A ;

Zecca, C ;

Adami, R ;

Angeletti, B ;

Ciscato, P ;

Pellegrino, MA ;

Bottinelli, R ;

Green, MR ;

Tupler, R .

NATURE, 2006, 439 (7079) :973-977

[24] Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle [J].

Gabellini, D ;

Green, MR ;

Tupler, R .

CELL, 2002, 110 (03) :339-348

[25] Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element [J].

Gabriëls, J ;

Beckers, MC ;

Ding, H ;

De Vriese, A ;

Plaisance, S ;

van der Maarel, SM ;

Padberg, GW ;

Frants, RR ;

Hewitt, JE ;

Collen, D ;

Belayew, A .

GENE, 1999, 236 (01) :25-32

[26] FUNCTIONAL-ORGANIZATION OF THE NUCLEAR-ENVELOPE [J].

GERACE, L ;

BURKE, B .

ANNUAL REVIEW OF CELL BIOLOGY, 1988, 4 :335-374

[27]

GILBERT JR, 1993, AM J HUM GENET, V53, P401

[28]

Ginisty H, 1999, J CELL SCI, V112, P761

[29] FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates [J].

Grewal, PK ;

Todd, LC ;

van der Maarel, S ;

Frants, RR ;

Hewitt, JE .

GENE, 1998, 216 (01) :13-19

[30] The nuclear lamina and its functions in the nucleus [J].

Gruenbaum, Y ;

Goldman, RD ;

Meyuhas, R ;

Mills, E ;

Margalit, A ;

Fridkin, A ;

Dayani, Y ;

Prokocimer, M ;

Enosh, A .

INTERNATIONAL REVIEW OF CYTOLOGY - A SURVEY OF CELL BIOLOGY, VOL 226, 2003, 226 :1-62

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