Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.

@article{Sun2013ReplicativeMO,
  title={Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.},
  author={Zhe Sun and Pengfei Liu and Xueyuan Jia and Marjorie A. Withers and Li Jin and James R Lupski and Feng Zhang},
  journal={Human molecular genetics},
  year={2013},
  volume={22 4},
  pages={749-56}
}
Copy number variations (CNVs) in the human genome contribute significantly to disease. De novo CNV mutations arise via genomic rearrangements, which can occur in 'trans', i.e. via interchromosomal events, or in 'cis', i.e. via intrachromosomal events. However, what molecular mechanisms occur between chromosomes versus between or within chromatids has not been systematically investigated. We hypothesized that distinct CNV mutational mechanisms, based on their intrinsic properties, may occur in a… CONTINUE READING
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