Adaptive Evolution of Pelvic Reduction in Sticklebacks by Recurrent Deletion of a Pitx1 Enhancer
Open accessAbstract
Adaptive Girdle Loss in Sticklebacks: How do molecular changes give rise to phenotypic adaptation exemplified by the repeated reduction in the pelvic girdle observed in separate populations of sticklebacks? Now Chan et al. (p. 302 , published online 10 December) have identified the specific DNA changes that control this major skeletal adaptation. The key locus controlling pelvic phenotypes mapped to a noncoding regulatory region upstream of the Pituitary homeobox transcription factor 1 gene, which drives a tissue-specific pelvic enhancer. Multiple populations showed independent deletions in this region and enhancer function was inactivated. Reintroduction of the enhancer restored pelvic development in a pelvic-reduced stickleback.
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Evolutionary changes in any pleiotropically active gene, as are most regulatory genes, will generally target specific cis-regulatory modules.
“it predicts that evolutionary changes in any pleiotropically active gene, as are most regulatory genes, will generally target specific cis-regulatory modules”
From Evolution of Gene Regulatory Networks Controlling Body Plan Development (2011) · cites this paper as Chan et al., 2010
The Discussion reports adaptive change centered on the tissue-specific Pel enhancer rather than the Pitx1 coding region, and ‘A small enhancer drives pelvic expression of Pitx1’ shows that this enhancer acts in one of several tissues where Pitx1 is expressed. This supports Pitx1 as an example, but the paper does not predict that evolutionary changes in any pleiotropic gene will generally target specific cis-regulatory modules, or state that most regulatory genes are pleiotropic. Page numbers are unavailable in our copy. (LLM, conf=0.84)
Experimental — accuracy not yet measuredThe underlying genomic event for pelvic spine reduction is deletion of a cis-regulatory module controlling pitx1 expression in pelvic buds during larval development.
“The underlying genomic event turns out to be deletion of a cis-regulatory module which controls expression of the pitx1 regulatory gene in the pelvic buds during larval development (Chan et al., 2010).”
From Evolution of Gene Regulatory Networks Controlling Body Plan Development (2011) · cites this paper as Chan et al., 2010
The cis-regulatory module lies in an unstable, repetitive sequence-filled genomic region, possibly accounting for its repeated deletion.
“The cis-regulatory module lies in an unstable, repetitive sequence-filled genomic region, possibly accounting for its repeated deletion (Chan et al., 2010).”
From Evolution of Gene Regulatory Networks Controlling Body Plan Development (2011) · cites this paper as Chan et al., 2010
Introducing the cloned cis-regulatory module upstream of Pitx1 coding sequence into reduced spine fish rescued the spineless phenotype.
“when this cis-regulatory module was cloned upstream of a sequence encoding the Pitx1 protein and introduced into reduced spine fish, it rescued the spineless phenotype.”
From Evolution of Gene Regulatory Networks Controlling Body Plan Development (2011) · cites this paper as Chan et al., 2010
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“This repeated pelvic loss maps to recurrent deletions of a pelvic enhancer (Pel) of the homeodomain transcription factor gene Pitx1 (ref.(329)).”
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- Authors
- Chan, Y. F., Marks, M. E., Jones, F. C., Villarreal, G., Shapiro, M. D., Brady, S. D., Southwick, A. M., Absher, D. M., Grimwood, J., Schmutz, J., Myers, R. M., Petrov, D., Jónsson, B., Schluter, D., Bell, M. A., & Kingsley, D. M.
- Affiliations
- Howard Hughes Medical Institute (US)
- Stanford University (US)
- HudsonAlpha Institute for Biotechnology (US)
- Institute of Freshwater Fisheries, Sæmundargata 1, 550 Sauðárkrókur, Iceland.
- University of British Columbia (CA)
- Stony Brook University (US)
- Corresponding author
- Chan, Yingguang Frank
- Marks, Melissa E.
- Villarreal, Guadalupe
- Shapiro, Michael D.
- Kingsley, David M.
- ORCID
- Venue
- Science
- Published
- 2010-01-15
- Volume
- 327
- Issue
- 5963
- Pages
- 302-305
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC3109066
- OpenAlex
- W2170831380
- Cited by
- 1,020
- References
- 36
- Citations by year
- 2026: 32 · 2025: 38 · 2024: 46 · 2023: 47 · 2022: 51 · 2021: 63 · 2020: 65 · 2019: 51 · 2018: 66 · 2017: 66 · 2016: 92 · 2015: 66 · 2014: 66 · 2013: 84 · 2012: 70
- FWCI
- 25.12
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Max Planck Institute for Plasma Physics (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- National Human Genome Research Institute (P50 HG-02568, P50HG002568)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Keywords
- pelvic reduction, stickleback, PITX1, enhancer deletion, regulatory mutations, adaptive evolution, positive selection, developmental control genes, Gasterosteus aculeatus, morphological evolution
- MeSH terms
- Alleles, Animals, Chromosome Mapping, Crosses, Genetic, Enhancer Elements, Genetic, Biological Evolution, Molecular Sequence Data, Mutation, Pelvis, Selection, Genetic, Sequence Deletion, DNA, Intergenic, Smegmamorpha, Fish Proteins, Chromosome Fragile Sites, Paired Box Transcription Factors
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