The effect of myotonic dystrophy transcript levels and location on muscle differentiation

Nikolaos P Mastroyiannopoulos, Elina Chrysanthou, Tassos C Kyriakides, James B Uney, Mani S Mahadevan, Leonidas A Phylactou

Research output: Contribution to journalArticle (Academic Journal)peer-review

6 Citations (Scopus)


In myotonic dystrophy type I (DM1), nuclear retention of mutant DMPK transcripts compromises muscle cell differentiation. Although several reports have identified molecular defects in myogenesis, it remains still unclear how exactly the retention of the mutant transcripts induces this defect. We have recently created a novel cellular model in which the mutant DMPK 3' UTR transcripts were released to the cytoplasm of myoblasts by using the WPRE genetic element. As a result, muscle cell differentiation was repaired. In this paper, this cellular model was further exploited to investigate the effect of the levels and location of the mutant transcripts on muscle differentiation. Results show that the levels of these transcripts were proportional to the inhibition of both the initial fusion of myoblasts and the maturity of myotubes. Moreover, the cytoplasmic export of the mutant RNAs to the cytoplasm caused less inhibition only in the initial fusion of myoblasts.

Original languageEnglish
Pages (from-to)526-31
Number of pages6
JournalBiochemical and Biophysical Research Communications
Issue number2
Publication statusPublished - 12 Dec 2008


  • 3' Untranslated Regions
  • Animals
  • Cell Differentiation
  • Cell Line
  • Cell Nucleus
  • Cytoplasm
  • Mice
  • Models, Biological
  • Muscle Development
  • Myoblasts
  • Myotonic Dystrophy
  • Myotonin-Protein Kinase
  • Protein-Serine-Threonine Kinases
  • Regulatory Elements, Transcriptional
  • Transcription, Genetic

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