Somatic mosaicism in the human genome

Donald Freed, Eric L. Stevens, Jonathan Pevsner

Research output: Contribution to journalReview articlepeer-review

78 Scopus citations


Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells within an individual, derived from a postzygotic mutation. In contrast to inherited mutations, somatic mosaic mutations may affect only a portion of the body and are not transmitted to progeny. These mutations affect varying genomic sizes ranging from single nucleotides to entire chromosomes and have been implicated in disease, most prominently cancer. The phenotypic consequences of somatic mosaicism are dependent upon many factors including the developmental time at which the mutation occurs, the areas of the body that are affected, and the pathophysiological effect(s) of the mutation. The advent of second-generation sequencing technologies has augmented existing array-based and cytogenetic approaches for the identification of somatic mutations. We outline the strengths and weaknesses of these techniques and highlight recent insights into the role of somatic mosaicism in causing cancer, neurodegenerative, monogenic, and complex disease.

Original languageEnglish (US)
Pages (from-to)1064-1094
Number of pages31
Issue number4
StatePublished - Dec 11 2014


  • Aging
  • Complex disease
  • Germline
  • Mosaicism
  • Mutation
  • Neurodegeneration
  • Retrotransposition
  • Somatic

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Somatic mosaicism in the human genome'. Together they form a unique fingerprint.

Cite this