Carvalho Claudia M B, Lupski James R
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Centro de Pesquisas René Rachou - FIOCRUZ, Belo Horizonte, MG 30190-002, Brazil.
Nat Rev Genet. 2016 Apr;17(4):224-38. doi: 10.1038/nrg.2015.25. Epub 2016 Feb 29.
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.
随着基因组学领域近期技术的迅猛发展以及全基因组检测在临床中的应用，我们对基因组疾病分子基础的理解，特别是结构变异对疾病负担的影响，正在迅速演变。正在进行的研究揭示了基因组结构在特定基因座结构变异形成过程中的普遍作用，这一作用在基于DNA重组的过程以及基于复制的过程中均有体现。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，也凸显了我们的基因组在进化、健康和疾病易感性方面具有的巨大可塑性和动态特性。
