The pleiotropic structure of the genotype-phenotype map: the evolvability of complex organisms

Nat Rev Genet. 2011 Mar;12(3):204-13. doi: 10.1038/nrg2949.


It was first noticed 100 years ago that mutations tend to affect more than one phenotypic characteristic, a phenomenon that was called 'pleiotropy'. Because pleiotropy was found so frequently, the notion arose that pleiotropy is 'universal'. However, quantitative estimates of pleiotropy have not been available until recently. These estimates show that pleiotropy is highly restricted and are more in line with the notion of variational modularity than with universal pleiotropy. This finding has major implications for the evolvability of complex organisms and the mapping of disease-causing mutations.

Publication types

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

MeSH terms

  • Animals
  • Evolution, Molecular*
  • Female
  • Genetic Association Studies*
  • Genetic Pleiotropy*
  • Humans
  • Male
  • Mice
  • Models, Genetic
  • Quantitative Trait Loci
  • Selection, Genetic