Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy

Hum Mol Genet. 2005 Jun 1;14(11):1539-47. doi: 10.1093/hmg/ddi162. Epub 2005 Apr 20.

Abstract

Myotonic dystrophy type I (DM1) is an RNA-mediated disease caused by a non-coding CTG repeat expansion. A key feature of the RNA-mediated pathogenesis model for DM is the disrupted splicing of specific pre-mRNA targets. A link has been established between splicing regulation by CUG-BP1, a member of the CELF family of proteins, and DM1 pathogenesis. To determine whether increased CUG-BP1 function was sufficient to model DM, transgenic mice overexpressing CUG-BP1 (MCKCUG-BP1) in heart and skeletal muscle, two tissues affected in DM1, were generated. Histological and electron microscopic analyses of skeletal muscle reveal common pathological features with DM tissues: chains of central nuclei, degenerating fibers and centralized NADH reactivity. MCKCUG-BP1 mice have disrupted splicing of three CELF target pre-mRNAs, cardiac troponin T (Tnnt2), myotubularin-related 1 gene (Mtmr1) and the muscle-specific chloride channel (Clcn1), consistent with that observed in DM heart and skeletal muscle. The results are consistent with a mechanism for DM pathogenesis in which expanded repeats result in increased CUG-BP1 activity and/or other CELF family members and have trans-dominant effects on specific pre-mRNA targets.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alternative Splicing
  • Animals
  • Base Sequence
  • CELF1 Protein
  • DNA Primers
  • Mice
  • Mice, Transgenic
  • Microscopy, Electron, Transmission
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / ultrastructure
  • Myocardium / metabolism
  • Myotonic Dystrophy / genetics*
  • RNA Splicing*
  • RNA-Binding Proteins / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • CELF1 Protein
  • CELF1 protein, human
  • DNA Primers
  • RNA-Binding Proteins