Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy

Myotonic dystrophyis a CUG repeat expansion disease and mice deficient in MBNL1, an RNA binding protein, show many characteristics of the disease. Comparison of gene expression profilesof two mouse models of the disease reveals that CUG repeat expansions have two effects – loss of Mbnl1function that leads to altered splicing and loss of an as yet unknown function that disrupts extracellular matrixprotein mRNA regulation.