The Evolutionary Significance of Cis-Regulatory Mutations

Nat Rev Genet. 2007 Mar;8(3):206-16. doi: 10.1038/nrg2063.

Abstract

For decades, evolutionary biologists have argued that changes in cis-regulatory sequences constitute an important part of the genetic basis for adaptation. Although originally based on first principles, this claim is now empirically well supported: numerous studies have identified cis-regulatory mutations with functionally significant consequences for morphology, physiology and behaviour. The focus has now shifted to considering whether cis-regulatory and coding mutations make qualitatively different contributions to phenotypic evolution. Cases in which parallel mutations have produced parallel trait modifications in particular suggest that some phenotypic changes are more likely to result from cis-regulatory mutations than from coding mutations.

Publication types

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

MeSH terms

  • Animals
  • Evolution, Molecular*
  • Gene Expression Regulation*
  • Genome*
  • Humans
  • Mutation*
  • Quantitative Trait Loci / genetics*
  • Regulatory Sequences, Nucleic Acid / genetics*