Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts

Hum Genet. 2006 Nov;120(4):487-99. doi: 10.1007/s00439-006-0228-8. Epub 2006 Aug 23.

Abstract

Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder characterised by muscle weakness and wasting. There are two forms of DM; both of which are caused by the expansion of repeated DNA sequences. DM1 is associated with a CTG repeat located in the 3' untranslated region of a gene, DMPK and DM2 with a tetranucleotide repeat expansion, CCTG, located in the first intron of a different gene, ZNF9. Recent data suggest a dominant RNA gain-of-function mechanism underlying DM, as transcripts containing either CUG or CCUG repeat expansions accumulate as foci in the nuclei of DM1 and DM2 cells respectively, where they exert a toxic effect, sequestering specific RNA binding proteins such as Muscleblind, which leads to splicing defects and the disruption of normal cellular functions. Z-band disruption is a well-known histological feature of DM1 muscle, which has also been reported in Muscleblind deficient flies. In order to determine whether there is a common molecular basis for this abnormality we have examined the alternative splicing pattern of transcripts that encode proteins associated with the Z-band in both organisms. Our results demonstrate that the missplicing of ZASP/LDB3 leads to the expression of an isoform in DM1 patient muscle, which is not present in normal controls, nor in other myopathies. Furthermore the Drosophila homologue, CG30084, is also misspliced, in Muscleblind deficient flies. Another Z-band transcript, alpha actinin, is misspliced in mbl mutant flies, but not in DM1 patient samples. These results point to similarities but subtle differences in the molecular breakdown of Z-band structures in flies and DM patients and emphasise the relevance of Muscleblind proteins in DM pathophysiology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actinin / genetics
  • Adaptor Proteins, Signal Transducing / genetics
  • Adult
  • Alternative Splicing*
  • Amino Acid Sequence
  • Animals
  • Disease Models, Animal
  • Drosophila Proteins / deficiency
  • Drosophila Proteins / genetics*
  • Drosophila melanogaster / embryology
  • Drosophila melanogaster / genetics*
  • Drosophila melanogaster / metabolism
  • Gene Expression Regulation, Developmental
  • Humans
  • Molecular Sequence Data
  • Muscle Proteins / genetics*
  • Muscle, Skeletal / embryology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation
  • Myotonic Dystrophy / embryology
  • Myotonic Dystrophy / genetics*
  • Myotonic Dystrophy / pathology
  • Nuclear Proteins / deficiency
  • Nuclear Proteins / genetics*
  • Protein Isoforms / genetics
  • RNA / genetics
  • RNA / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Homology, Amino Acid
  • Sequence Homology, Nucleic Acid
  • Transcription, Genetic

Substances

  • Adaptor Proteins, Signal Transducing
  • Drosophila Proteins
  • Muscle Proteins
  • Nuclear Proteins
  • Protein Isoforms
  • mbl protein, Drosophila
  • Actinin
  • RNA