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Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

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TRENDS IN MOLECULAR MEDICINE
卷 17, 期 5, 页码 252-258

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ELSEVIER SCI LTD
DOI: 10.1016/j.molmed.2011.01.001

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资金

  1. Fields Center for FSHD and Neuromuscular Research
  2. National Institutes of Health [NINDS P01NS069539, NIAMS R01AR045203, NIAMS R21AR059966]
  3. Muscular Dystrophy Association [173202]
  4. Prinses Beatrix Fonds [WAR08-14]
  5. Shaw Family Foundation
  6. FSH Society
  7. Dutch FSHD Foundation
  8. Pacific Northwest Friends of FSH Research

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Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) has an unusual pathogenic mechanism. FSHD is caused by deletion of a subset of D4Z4 macrosatellite repeat units in the subtelomere of chromosome 4q. Recent studies provide compelling evidence that a retrotransposed gene in the D4Z4 repeat, DUX4, is expressed in the human germline and then epigenetically silenced in somatic tissues. In FSHD, the combination of inefficient chromatin silencing of the D4Z4 repeat and polymorphisms on the FSHD-permissive alleles that stabilize the DUX4 mRNAs emanating from the repeat result in inappropriate DUX4 protein expression in muscle cells. FSHD is thereby the first example of a human disease caused by the inefficient repression of a retrogene in a macrosatellite repeat array.

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