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.

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页码：94 / 102

页数：9

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