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In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy
- Publication Year :
- 2004
-
Abstract
- We previously identified a dystrophin intron 11 rearrangement in one family with X-linked dilated cardiomyopathy, causing incorporation of an aberrant exon in a tissue-specific manner. In this study we analyzed the role of different intron 11 genomic regions in the regulation of splicing by using mini-genes based approach, in C2C12 (skeletal muscle) myoblasts and myotubes, H9C2 cardiomyocytes, and HeLa cells. We show that inclusion of the aberrant exon is favored in H9C2 and differentiated C2C12 myotubes. These data suggest that the aberrant exon undergoes a differentiation-specific splicing. Unexpectedly, length of intron has a favorable effect in inclusion of the aberrant exon in the cardiac cells, suggesting that cardiac cells might be more prone to steric hindrance of trans-acting factors, involved in the inclusion of the aberrant exon. Furthermore, the cultured cell system used can serve as a suitable model to study human alternative splicing.
- Subjects :
- Cardiomyopathy, Dilated
Muscle Fibers, Skeletal
Biophysics
Muscle Proteins
Transfection
Splicing
Biochemistry
X-linked dilated cardiomyopathy
Cell Line
Dystrophin
Myoblasts
Mice
Exon
Alu Elements
Animals
Humans
Myocyte
Connectin
Myocytes, Cardiac
Muscle, Skeletal
Molecular Biology
Cardiomyocytes
biology
Myogenesis
Myocardium
Alternative splicing
Intron
Cell Differentiation
Genetic Diseases, X-Linked
Exons
Cell Biology
Molecular biology
Introns
Rats
Alternative Splicing
RNA splicing
biology.protein
Protein Kinases
C2C12
HeLa Cells
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....622775aa9868debddc95e781e09461e4