Molecular spandrels: tests of adaptation at the genetic level

Nat Rev Genet. 2011 Oct 18;12(11):767-80. doi: 10.1038/nrg3015.


Although much progress has been made in identifying the genes (and, in rare cases, mutations) that contribute to phenotypic variation, less is known about the effects that these genes have on fitness. Nonetheless, genes are commonly labelled as 'adaptive' if an allele has been shown to affect a phenotype with known or suspected functional importance or if patterns of nucleotide variation at the locus are consistent with positive selection. In these cases, the 'adaptive' designation may be premature and may lead to incorrect conclusions about the relationships between gene function and fitness. Experiments to test targets and agents of natural selection within a genomic context are necessary for identifying the adaptive consequences of individual alleles.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Adaptation, Physiological / genetics*
  • Alleles
  • Animals
  • Genetic Variation*
  • Genome
  • Genotype
  • Humans
  • Linkage Disequilibrium
  • Phenotype
  • Quantitative Trait Loci
  • Selection, Genetic