Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD

@inproceedings{Krom2013IntrinsicER,
  title={Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD},
  author={Yvonne D. Krom and Peter E. Thijssen and Janet M Young and Bianca den Hamer and Judit Balog and Zizhen Yao and Lisa Maves and Lauren Snider and Paul Knopp and Peter S Zammit and Tonnie Rijkers and Baziel G. M. van Engelen and George W. Padberg and Rune R. Frants and Rabi Tawil and Stephen J. Tapscott and Silv{\'e}re M. van der Maarel},
  booktitle={PLoS genetics},
  year={2013}
}
Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each repeat. Unaffected individuals generally have more than 10 repeats arrayed in the subtelomeric region of chromosome 4, whereas the most common form of FSHD (FSHD1) is caused by a contraction of the array to fewer than 10 repeats, associated with… CONTINUE READING

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