Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

被引：306

作者：

van Overveld, PGM

Lemmers, RJFL

Sandkuijl, LA

Enthoven, L

Winokur, ST

Bakels, F

Padberg, GW

van Ommen, GJB

Frants, RR

van der Maarel, SM

机构：

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

[2] Leiden Univ, Med Ctr, Leiden Amsterdam Ctr Drug Res, Div Med Pharmacol, NL-2300 RA Leiden, Netherlands

[3] Univ Calif Irvine, Coll Med, Dept Biol Chem, Irvine, CA 92717 USA

[4] Radboud Univ Nijmegen Med Ctr, Dept Neurol, Nijmegen, Netherlands

来源：

NATURE GENETICS | 2003年 / 35卷 / 04期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1038/ng1262

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD1, OMIM 158900) is caused by contraction of the D4Z4 repeat array on 4qter. We show that this contraction causes marked hypomethylation of the contracted D4Z4 allele in individuals with FSHD1. Individuals with phenotypic FSHD1, who are clinically identical to FSHD1 but have an unaltered D4Z4, also have hypomethylation of D4Z4. These results strongly suggest that hypomethylation of D4Z4 is a key event in the cascade of epigenetic events causing FSHD1.

引用

页码：315 / 317

页数：4

共 15 条

[1] Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 [J].