Mechanisms for recurrent and complex human genomic rearrangements.
作者： Pengfei Liu , Claudia MB Carvalho , PJ Hastings , James R Lupski
DOI: 10.1016/J.GDE.2012.02.012
关键词: Genome 、 Biology 、 Model organism 、 Chromothripsis 、 Evolutionary biology 、 Human genetics 、 Gene rearrangement 、 Copy-number variation 、 Human genome 、 Non-allelic homologous recombination 、 Genetics
摘要: During the last two decades, 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 wealth information available clinic. describe progress explaining nonallelic homologous recombination (NAHR), a major cause change occurring when control allelic fails, highlight growing replicative mechanisms to explain complex events, and understanding extreme chromosome reorganization (chromothripsis). Both nonhomologous end-joining aberrant replication have significant roles chromothripsis. As we CNV, processes evolution revealed.
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