Trans -acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles
Open Access
- 1 February 2003
- journal article
- Published by Wiley in FEBS Letters
- Vol. 537 (1-3), 30-34
- https://doi.org/10.1016/s0014-5793(03)00066-8
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.Keywords
This publication has 11 references indexed in Scilit:
- The dystrophin gene is alternatively spliced throughout its coding sequenceFEBS Letters, 2002
- Regulation of alternative splicing of α‐actinin transcript by Bruno‐like proteinsGenes to Cells, 2002
- Genomic Organization and Isoform-Specific Tissue Expression of Human NAPOR (CUGBP2) as a Candidate Gene for Familial Arrhythmogenic Right Ventricular DysplasiaGenomics, 2001
- The CELF Family of RNA Binding Proteins Is Implicated in Cell-Specific and Developmentally Regulated Alternative SplicingMolecular and Cellular Biology, 2001
- Disruption of Splicing Regulated by a CUG-Binding Protein in Myotonic DystrophyScience, 1998
- Six Novel Transcripts That Remove a Huge Intron Ranging from 250 to 800 kb Are Produced by Alternative Splicing of the 5′ Region of the Dystrophin Gene in Human Skeletal MuscleBiochemical and Biophysical Research Communications, 1997
- The structural and functional diversity of dystrophinNature Genetics, 1993
- Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain developmentNucleic Acids Research, 1992
- Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminusNature, 1989
- An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locusGenomics, 1988