A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast.

@article{Sironi2006ARI,
  title={A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast.},
  author={Manuela Sironi and Uberto Pozzoli and Giacomo Comi and Stefania Riva and Andreina Bordoni and Nereo Bresolin and Dilip K. Nag},
  journal={FASEB journal : official publication of the Federation of American Societies for Experimental Biology},
  year={2006},
  volume={20 11},
  pages={1910-2}
}
Deletions within the dystrophin gene (DMD) account for >70% of mutations leading to Duchenne and Becker muscular dystrophies (DMD and BMD). Deletion breakpoints were reported to be scattered within regions that also represent meiotic recombination hot spots. Recent studies indicates that deletion junctions arise from nonhomologous end joining (NHEJ), a major pathway for repairing DNA double-strand breaks (DSBs) in mammals. Here we show that a region in intron 47 (i.e., a major deletion hot spot… CONTINUE READING
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