A Functional Role for 4qA/B in the Structural Rearrangement of the 4q35 Region and in the Regulation of FRG1 and ANT1 in Facioscapulohumeral Dystrophy

@article{Pirozhkova2008AFR,
  title={A Functional Role for 4qA/B in the Structural Rearrangement of the 4q35 Region and in the Regulation of FRG1 and ANT1 in Facioscapulohumeral Dystrophy},
  author={Iryna Pirozhkova and Andrei Petrov and Petr V. Dmitriev and Dalila Laoudj and Marc Lipinski and Yegor S Vassetzky},
  journal={PLoS ONE},
  year={2008},
  volume={3},
  pages={2037 - 2042}
}
The number of D4Z4 repeats in the subtelomeric region of chromosome 4q is strongly reduced in patients with Facio-Scapulo-Humeral Dystrophy (FSHD). We performed chromosome conformation capture (3C) analysis to document the interactions taking place among different 4q35 markers. We found that the reduced number of D4Z4 repeats in FSHD myoblasts was associated with a global alteration of the three-dimensional structure of the 4q35 region. Indeed, differently from normal myoblasts, the 4qA/B… CONTINUE READING

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Primary myoblasts derived from the facioscapulohumeral dystrophy patients are hypersensitive to oxidative stress and show defects upon terminal differentiation

  • M Barro, G Carnac, S Flavier, J Mercier, YS Vassetzky
  • J Cell Mol Med in press
  • 2008
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