Insights into the role of somatic mosaicism in the brain

Apuã C.M. Paquola, Jennifer A. Erwin, Fred H. Gage

Research output: Contribution to journalReview articlepeer-review

20 Scopus citations


Somatic mosaicism refers to the fact that cells within an organism have different genomes. It is now clear that somatic mosaicism occurs in all brains and that somatic mutations in a subset of cells can cause various rare neurodevelopmental disorders. However, for most individuals, the extent and consequences of somatic mosaicism are largely unknown. The complexity and unique features of the brain suggest that somatic mosaicism can play an important role in behavior and cognition. Here we review recent manuscripts showing instances of somatic mosaicism in the brain and estimating its extent and possible biological consequences. The consequences of somatic mosaicism span vast dimensions -from a single-locus variant, to genes and gene networks, to cells, to the interactions of the mosaic cells via neural networks affecting behavior and cognition. We highlight how systems biology approaches are particularly well suited for the complex emerging field of brain somatic mosaicism.

Original languageEnglish (US)
Pages (from-to)90-94
Number of pages5
JournalCurrent Opinion in Systems Biology
StatePublished - Feb 2017
Externally publishedYes


  • Brain development
  • Mutation
  • Retrotransposition
  • Somatic mosaicism

ASJC Scopus subject areas

  • Modeling and Simulation
  • General Biochemistry, Genetics and Molecular Biology
  • Drug Discovery
  • Computer Science Applications
  • Applied Mathematics


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