Biphasic Myopathic Phenotype of Mouse DUX, an ORF within Conserved FSHD-Related Repeats

@inproceedings{Bosnakovski2009BiphasicMP,
  title={Biphasic Myopathic Phenotype of Mouse DUX, an ORF within Conserved FSHD-Related Repeats},
  author={Darko Bosnakovski and Randy S. Daughters and Zhaohui Xu and Jonathan M. W. Slack and Michael Kyba},
  booktitle={PloS one},
  year={2009}
}
Facioscapulohumeral muscular dystrophy (FSHD) is caused by contractions of D4Z4 repeats at 4q35.2 thought to induce misregulation of nearby genes, one of which, DUX4, is actually localized within each repeat. A conserved ORF (mDUX), embedded within D4Z4-like repeats, encoding a double-homeodomain protein, was recently identified on mouse chromosome 10. We show here that high level mDUX expression induces myoblast death, while low non-toxic levels block myogenic differentiation by down… CONTINUE READING

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