Mechanisms and consequences of somatic mosaicism in humans

Nat Rev Genet. 2002 Oct;3(10):748-58. doi: 10.1038/nrg906.


Somatic mosaicism -- the presence of genetically distinct populations of somatic cells in a given organism -- is frequently masked, but it can also result in major phenotypic changes and reveal the expression of otherwise lethal genetic mutations. Mosaicism can be caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities and the spontaneous reversion of inherited mutations. In this review, we discuss the human disorders that result from somatic mosaicism, as well as the molecular genetic mechanisms by which they arise. Specifically, we emphasize the role of selection in the phenotypic manifestations of mosaicism.

Publication types

  • Review

MeSH terms

  • Cell Lineage / genetics
  • Chimera / genetics
  • Crossing Over, Genetic
  • DNA, Mitochondrial / genetics
  • Genetic Diseases, Inborn / genetics
  • Germ Cells
  • Humans
  • Mosaicism / genetics*
  • Mutation
  • Phenotype


  • DNA, Mitochondrial