Campbell Ian M, Shaw Chad A, Stankiewicz Pawel, Lupski James R
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Statistics, Rice University, Houston, TX 77005, USA.
Trends Genet. 2015 Jul;31(7):382-92. doi: 10.1016/j.tig.2015.03.013. Epub 2015 Apr 21.
Nearly all of the genetic material among cells within an organism is identical. However, single-nucleotide variants (SNVs), small insertions/deletions (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. 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.
一个生物体内的细胞之间几乎所有的遗传物质都是相同的。然而，在发育过程中，随着细胞分裂，单核苷酸变异（SNV）、小插入/缺失（indel）、拷贝数变异（CNV）和其他结构变异（SV）会不断积累。这个过程导致一个由无数细胞组成的生物体，每个细胞都有其独特的个人基因组。因此，每个人无疑都是嵌合体。嵌合突变可能未被注意到，是遗传疾病或正常人类变异的基础，并且可能作为构成性变异传递给下一代。我们综述了突变发生的发育时间的影响、它们产生的机制、检测嵌合变异的方法以及将这些突变传递给下一代的风险。
