Somatic mutations, genome mosaicism, cancer and aging

Research output: Contribution to journalReview articlepeer-review

96 Scopus citations


Genomes are inherently unstable due to the need for DNA sequence variation in the germ line to fuel evolution through natural selection. In somatic tissues mutations accumulate during development and aging, generating genome mosaics. There is little information about the possible causal role of increased somatic mutation loads in late-life disease and aging, with the exception of cancer. Characterizing somatic mutations and their functional consequences in normal tissues remains a formidable challenge due to their low, individual abundance. Here, I will briefly review our current knowledge of somatic mutations in animals and humans in relation to aging, how they arise and lead to genome mosaicism, the technology to study somatic mutations and how they possibly could cause non-clonal disease.

Original languageEnglish (US)
Pages (from-to)141-149
Number of pages9
JournalCurrent Opinion in Genetics and Development
StatePublished - Jun 1 2014

ASJC Scopus subject areas

  • Genetics
  • Developmental Biology


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