Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation

FEBS Letters

Yip, Darren J.¹  Picketts, David J.¹ 

[1] Molecular Medicine Program, Ottawa Health Research Institute, 501 Smyth Road, Ottawa, ON, Canada K1H 8L6

关键词: Facioscapulohumeral muscular dystrophy;    D4Z4;    DUX4;    4q35;   

DOI  :  10.1016/S0014-5793(03)00110-8

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy associated with deletions of a subtelomeric repeat (D4Z4). A reduction in D4Z4 copy number coincides with increased expression of neighboring 4q35 genes, implying a normal repressive role for the repeats. Here we examine the effect of increasing D4Z4 repeat number on reporter gene activity in C2C12 cells. Repeat size had only a minor cis-effect on reporter gene activity but greatly compromised myotube formation. This latter trans-effect did not result from expression of a gene within the repeat (DUX4) but likely results from squelching of the D4Z4 recognition complex.

【 授权许可】

Unknown