Cryptic genetic variation: evolution's hidden substrate

Nat Rev Genet. 2014 Apr;15(4):247-58. doi: 10.1038/nrg3688. Epub 2014 Mar 11.


Cryptic genetic variation (CGV) is invisible under normal conditions, but it can fuel evolution when circumstances change. In theory, CGV can represent a massive cache of adaptive potential or a pool of deleterious alleles that are in need of constant suppression. CGV emerges from both neutral and selective processes, and it may inform about how human populations respond to change. CGV facilitates adaptation in experimental settings, but does it have an important role in the real world? Here, we review the empirical support for widespread CGV in natural populations, including its potential role in emerging human diseases and the growing evidence of its contribution to evolution.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adaptation, Biological / genetics
  • Animals
  • Epigenesis, Genetic
  • Epistasis, Genetic
  • Evolution, Molecular*
  • Gene-Environment Interaction
  • Genetic Variation*
  • Humans
  • Models, Genetic
  • Phenotype
  • Selection, Genetic