Somatic mosaicism: implications for disease and transmission genetics.
Somatic mosaicism: implications for disease and transmission genetics.
复制标题
DOI：
10.1016/j.tig.2015.03.013
复制
发表时间：
2015-07
期刊：
影响因子：
--
通讯作者：
Lupski JR
中科院分区：
文献类型：
--
作者：
Campbell IM;Shaw CA;Stankiewicz P;Lupski JR
生物体内细胞之间的几乎所有遗传物质都是相同的。然而，随着细胞在发育过程中的分裂，单核苷酸变异(SNV)、INDELs、拷贝数变异(CNV)和其他结构变异(SVS)不断积累。这一过程导致了一个由无数细胞组成的有机体，每个细胞都有自己独特的个人基因组。因此，每个人无疑都是马赛克的。马赛克突变可能不被注意到，是遗传病或正常人类变异的基础，并可能作为体质变异传递给下一代。在这里，我们回顾了突变的发育时机的影响，它们产生的机制，检测镶嵌变体的方法，以及将这些突变传递给下一代的风险。
Nearly all of the genetic material among cells within an organism is identical. However, single nucleotide variants (SNVs), indels, copy number variants (CNVs), and other structural variants (SVs) continually accumulate as cells divide during development. This process results in an organism composed of countless cells, each with its own unique personal genome. Thus, every human is undoubtedly mosaic. Mosaic mutations can go unnoticed, underlie genetic disease or normal human variation, and may be transmitted to the next generation as constitutional variants. Here, we review the influence of the developmental timing of mutations, the mechanisms by which they arise, methods for detecting mosaic variants, and the risk of passing these mutations on to the next generation.