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Curr Opin Genet Dev. 2012 Jun;22(3):211-20. doi: 10.1016/j.gde.2012.02.012. Epub 2012 Mar 20.

Mechanisms for recurrent and complex human genomic rearrangements.

Author information

1
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Abstract

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.

PMID:
22440479
PMCID:
PMC3378805
DOI:
10.1016/j.gde.2012.02.012
[Indexed for MEDLINE]
Free PMC Article

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