Trans‐acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles

FEBS Letters

Bardoni, A.²  Bresolin, N.²  Giorda, R.²  Cagliani, R.²  Comi, G.P.¹  Pozzoli, U.²  Sironi, M.² 

[1] Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Università di Milano, IRCCS Ospedale Maggiore Policlinico, 20100 Milan, Italy;IRCCS E. Medea, Associazione La Nostra Famiglia, Via Don Luigi Monza 20, 23842 Bosisio Parini (LC), Italy

关键词: Dystrophin;    Splicing regulation;    Becker muscular dystrophy;    CUG-binding protein 2;    BMD;    Becker muscular dystrophy;    DMD;    Duchenne muscular dystrophy;    MD;    myotonic dystrophy;   

DOI  :  10.1016/S0014-5793(03)00066-8

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

We analyzed dystrophin alternative splicing events in a large number of Becker muscular dystrophy (BMD) affected individuals presenting major hot-spot deletions. Evidence is shown that altered splicing patterns in these patients do not directly result from the gene defect but probably derive from modifications in trans- rather than cis-acting factors. Several potential CUG-binding protein 2 (CUG-BP2) binding sites were found to be located in the dystrophin gene region encompassing exons 43–60 and CUG-BP2 transcript analysis indicated that not only expression levels are increased in dystrophic muscles but also that different CUG-BP2 isoforms are expressed. The possibility that CUG-BP2 might have a role in dystrophin splicing regulation is discussed.

【 授权许可】

Unknown