FEBS Letters | |
Trans‐acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles | |
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
【 预 览 】
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RO201912020312715ZK.pdf | 278KB | download |