The ageing genome, clonal mosaicism and chronic disease

Curr Opin Genet Dev. 2017 Feb;42:8-13. doi: 10.1016/j.gde.2016.12.002. Epub 2017 Jan 6.


Clonal mosaicism arises when a postzygotic mutational event is detectable in subpopulations of cells as an alternative genotype while not present in the germline genome. Although described in a subset of pediatric disorders, new genomic technologies have detected higher than anticipated frequencies of clonal mosaicism in adult population studies, stimulating investigation as to how clonal mosaicism could contribute to chronic human diseases, such as cancer, diabetes and neurodegenerative disorders. It has also been postulated to be an important mechanism for functional cellular diversity, including the brain. Early studies have characterized the spectrum of detectable mosaic alterations and have begun to investigate whether detectable mosaicism could be important as an overall biomarker for risk or in the case of hematologic cancers, identification of preleukemic clones.

Publication types

  • Review

MeSH terms

  • Aging / genetics*
  • Aging / pathology
  • Chronic Disease*
  • Genome, Human*
  • Genotype
  • Humans
  • Mosaicism*
  • Mutation
  • Neoplasms / genetics
  • Neoplasms / pathology
  • Polymorphism, Single Nucleotide / genetics