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 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.
Tonevitsky
E A
EA
Russian Research Institute of Sport and Physical Education, Moscow, Russia.
Trushkin
E V
EV
D017398:Alternative Splicing / Q000235:genetics*; D006801:Humans; D008954:Models, Biological; D008957:Models, Genetic; D009223:Myotonic Dystrophy / Q000235:genetics*; D011972:Receptor, Insulin / Q000235:genetics*
D011972:Receptor, Insulin