Mechanisms underlying structural variant formation in genomic disorders.
Mechanisms underlying structural variant formation in genomic disorders.
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DOI：
10.1038/nrg.2015.25
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发表时间：
2016-04
期刊：
影响因子：
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通讯作者：
Lupski JR
中科院分区：
文献类型：
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作者：
Carvalho CM;Lupski JR
随着最近基因组学技术的突飞猛进和全基因组测定的临床实施，我们对基因组疾病的分子基础，特别是结构变异对疾病负担的贡献的理解正在迅速发展。正在进行的研究揭示了基因组结构在特定位点结构变异形成中的普遍作用，无论是在DNA重组过程还是在复制过程中。这些报告展示了重复序列对基因组稳定性和结构变异复杂性的影响，也强调了我们的基因组在进化、健康和疾病易感性方面的巨大可塑性和动态性。
With the recent burst of technological developments in genomics, and the clinical implementation of genome-wide assays, our understanding of the molecular basis of genomic disorders, specifically the contribution of structural variation to disease burden, is evolving quickly. Ongoing studies have revealed a ubiquitous role for genome architecture in the formation of structural variants at a given locus, both in DNA recombination-based processes and in replication-based processes. These reports showcase the influence of repeat sequences on genomic stability and structural variant complexity and also highlight the tremendous plasticity and dynamic nature of our genome in evolution, health and disease susceptibility.