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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)30-34
Number of pages5
JournalFEBS Letters
Volume537
Issue number1-3
DOIs
Publication statusPublished - Feb 27 2003

Keywords

  • Becker muscular dystrophy
  • CUG-binding protein 2
  • Dystrophin
  • Splicing regulation

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

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