Somatic Mutagenesis in Mammals and Its Implications for Human Disease and Aging

被引：79

作者：

Zhang, Lei ^{[1
]}

Vijg, Jan ^{[1
]}

机构：

[1] Albert Einstein Coll Med, Dept Genet, Bronx, NY 10461 USA

来源：

ANNUAL REVIEW OF GENETICS, VOL 52 | 2018年 / 52卷

基金：

美国国家卫生研究院;

关键词：

somatic mutation; tissue specificity; single-cell DNA sequencing; aging; cancer; COPY-NUMBER-VARIATION; DETECTABLE CLONAL MOSAICISM; WHOLE-GENOME AMPLIFICATION; SINGLE-CELL ANALYSIS; STRUCTURAL VARIATION; L1; RETROTRANSPOSITION; MUTATION DETECTION; DNA-REPLICATION; ANEUPLOIDY; CANCER;

D O I：

10.1146/annurev-genet-120417-031501

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

DNA mutations as a consequence of errors during DNA damage repair, replication, or mitosis are the substrate for evolution. In multicellular organisms, mutations can occur in the germline and also in somatic tissues, where they are associated with cancer and other chronic diseases and possibly with aging. Recent advances in high-throughput sequencing have made it relatively easy to study germline de novo mutations, but in somatic cells, the vast majority of mutations are low-abundant and can be detected only in clonal lineages, such as tumors, or single cells. Here we review recent results on somatic mutations in normal human and animal tissues with a focus on their possible functional consequences.

引用

页码：397 / 419

页数：23

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