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A muscleblind knockout model for myotonic dystrophy.

The neuromuscular disease myotonic dystrophy (DM) is caused by microsatellite repeat expansions at two different genomic loci. Mutant DM transcripts are retained in the nucleus together with the muscleblind (Mbnl) proteins, and these abnormal RNAs somehow interfere with pre-mRNA splicing regulation. Here, we show that disruption of the mouse Mbnl1 gene leads to muscle, eye, and RNA splicing abnormalities that are characteristic of DM disease. Our results support the hypothesis that manifestations of DM can result from sequestration of specific RNA binding proteins by a repetitive element expansion in a mutant RNA.

Pubmed ID: 14671308


  • Kanadia RN
  • Johnstone KA
  • Mankodi A
  • Lungu C
  • Thornton CA
  • Esson D
  • Timmers AM
  • Hauswirth WW
  • Swanson MS


Science (New York, N.Y.)

Publication Data

December 12, 2003

Associated Grants

  • Agency: NIAMS NIH HHS, Id: AR46799
  • Agency: NIAMS NIH HHS, Id: AR46806
  • Agency: NIAMS NIH HHS, Id: AR48143
  • Agency: NIAMS NIH HHS, Id: R01 AR046799

Mesh Terms

  • Alternative Splicing
  • Animals
  • Cataract
  • Cell Nucleus
  • Chloride Channels
  • DNA-Binding Proteins
  • Disease Models, Animal
  • Electromyography
  • Exons
  • Gene Targeting
  • Introns
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Muscle Fibers, Skeletal
  • Muscle Relaxation
  • Muscle, Skeletal
  • Myocardium
  • Myotonic Dystrophy
  • Protein Isoforms
  • RNA Splicing
  • RNA-Binding Proteins
  • Reverse Transcriptase Polymerase Chain Reaction
  • Trinucleotide Repeat Expansion
  • Troponin T