The origin of human mutation in light of genomic data.
The origin of human mutation in light of genomic data.
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根据基因组数据揭示人类突变的起源。
DOI：
10.1038/s41576-021-00376-2
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发表时间：
2021
期刊：
影响因子：
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通讯作者：
Sunyaev,Shamil
中科院分区：
文献类型：
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作者：
Seplyarskiy,VladimirB;Sunyaev,Shamil
尽管多年来对DNA修复和复制在突变中的作用进行了积极的研究，但令人惊讶的是，人们对人类生殖系自发突变的起源知之甚少。随着高通量测序的出现，基因组规模的数据揭示了人类突变的统计特性。这些特性包括突变率和谱沿基因组在不同尺度上的变异，与表观基因组特征和父母年龄的依赖性有关。此外，来自母亲的突变比来自父亲的突变更少，并且具有明显的基因组分布。在已知的生物化学背景下解释这些模式的统计分析可以提供人类突变的机制模型。
Despite years of active research into the role of DNA repair and replication in mutagenesis, surprisingly little is known about the origin of spontaneous human mutation in the germ line. With the advent of high-throughput sequencing, genome-scale data have revealed statistical properties of mutagenesis in humans. These properties include variation of the mutation rate and spectrum along the genome at different scales in relation to epigenomic features and dependency on parental age. Moreover, mutations originated in mothers are less frequent than mutations originated in fathers and have a distinct genomic distribution. Statistical analyses that interpret these patterns in the context of known biochemistry can provide mechanistic models of mutagenesis in humans.