Adaptive evolution of pelvic reduction in sticklebacks by recurrent deletion of a pitxl enhancer

Yingguang Frank Chan, Melissa E. Marks, Felicity C. Jones, Guadalupe Villarreal, Michael D. Shapiro, Shannon D. Brady, Audrey M. Southwick, Devin M. Absher, Jane Grimwood, Jeremy Schmutz, Richard M. Myers, Dmitri Petrov, Bjarni Jónsson, Dolph Schluter, Michael A. Bell, David M. Kingsley

Research output: Contribution to journalArticlepeer-review

630 Scopus citations


The molecular mechanisms underlying major phenotypic changes that have evolved repeatedly in nature are generally unknown. Pelvic loss in different natural populations of threespine stickleback fish has occurred through regulatory mutations deleting a tissue-specific enhancer of the Pituitary homeobox transcription factor 1 (Pitxl) gene. The high prevalence of deletion mutations at Pitx1 may be influenced by inherent structural features of the locus. Although Pitx1 null mutations are lethal in laboratory animals, Pitx1 regulatory mutations show molecular signatures of positive selection in pelvic-reduced populations. These studies illustrate how major expression and morphological changes can arise from single mutational leaps in natural populations, producing new adaptive alleles via recurrent regulatory alterations in a key developmental control gene.

Original languageEnglish (US)
Pages (from-to)302-305
Number of pages4
Issue number5963
StatePublished - Jan 15 2010
Externally publishedYes

ASJC Scopus subject areas

  • General


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