Model for Alternative Splicing of Insulin Receptor in Myotonic Dystrophy Type 1

Muscular dystrophy is a common multisystem disease, which results from the impairment of alternative splicing. An increase in the number of unstable CTG and CCTG repeats in untranslated regions of the DMPK and ZNF9 genes is followed by dysregulation of RNA-binding proteins. Further changes are follo...

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Bibliographic Details
Published in:Bulletin of experimental biology and medicine 2009-06, Vol.147 (6), p.772-776
Main Authors: Tonevitsky, E. A, Trushkin, E. V
Format: Article
Language:English
Subjects:
Alternative Splicing - genetics
Biomedical and Life Sciences
Biomedicine
Cell Biology
Humans
Internal Medicine
Laboratory Medicine
Methods
model of splicing regulation
Models, Biological
Models, Genetic
myotonic dystrophy
Myotonic Dystrophy - genetics
Pathology
Receptor, Insulin - genetics
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Summary:Muscular dystrophy is a common multisystem disease, which results from the impairment of alternative splicing. An increase in the number of unstable CTG and CCTG repeats in untranslated regions of the DMPK and ZNF9 genes is followed by dysregulation of RNA-binding proteins. Further changes are followed by dysfunction of insulin receptors, membrane Cl⁻ channels, and other proteins. We developed a new mathematical model for the regulation of splicing of exon 11 in the IR gene, which describes the effect of various factors on alternative splicing.
ISSN:0007-4888
1573-8221
DOI:10.1007/s10517-009-0611-2