A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

@article{Lee2007ADR,
  title={A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders},
  author={Jennifer A. Lee and C. Carvalho and J. Lupski},
  journal={Cell},
  year={2007},
  volume={131},
  pages={1235-1247}
}
The prevailing mechanism for recurrent and some nonrecurrent rearrangements causing genomic disorders is nonallelic homologous recombination (NAHR) between region-specific low-copy repeats (LCRs). For other nonrecurrent rearrangements, nonhomologous end joining (NHEJ) is implicated. Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder caused most frequently (60%-70%) by nonrecurrent duplication of the dosage-sensitive proteolipid protein 1 (PLP1) gene but also by… Expand
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