Journal
CURRENT OPINION IN GENETICS & DEVELOPMENT
Volume 22, Issue 3, Pages 211-220Publisher
CURRENT BIOLOGY LTD
DOI: 10.1016/j.gde.2012.02.012
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Funding
- National Institute of Neurological Disorders and Stroke (National Institutes of Health) grant [R01NS058529]
- Texas Children's Hospital General Clinical Research Center grant [M01RR00188]
- Intellectual and Developmental Disabilities Research Centers grant [P30HD024064]
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During the last two decades, the importance of human genome copy number variation (CNV) in disease has become widely recognized. However, much is not understood about underlying mechanisms. We show how, although model organism research guides molecular understanding, important insights are gained from study of the wealth of information available in the clinic. We describe progress in explaining nonallelic homologous recombination (NAHR), a major cause of copy number change occurring when control of allelic recombination fails, highlight the growing importance of replicative mechanisms to explain complex events, and describe progress in understanding extreme chromosome reorganization (chromothripsis). Both nonhomologous end-joining and aberrant replication have significant roles in chromothripsis. As we study CNV, the processes underlying human genome evolution are revealed.
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