Somatic mutagenesis in mammals and its implications for human disease and aging

Lei Zhang, Jan Vijg

Research output: Contribution to journalReview articlepeer-review

74 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)397-419
Number of pages23
JournalAnnual review of genetics
StatePublished - Nov 23 2018


  • aging
  • cancer
  • single-cell DNA sequencing
  • somatic mutation
  • tissue specificity

ASJC Scopus subject areas

  • Genetics


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