The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.
THE LOCI OF REPEATED EVOLUTION: A CATALOG OF GENETIC HOTSPOTS OF PHENOTYPIC VARIATION: PERSPECTIVE
Abstract
What is the nature of the genetic changes underlying phenotypic evolution? We have catalogued 1008 alleles described in the literature that cause phenotypic differences among animals, plants, and yeasts. Surprisingly, evolution of similar traits in distinct lineages often involves mutations in the same gene ("gene reuse"). This compilation yields three important qualitative implications about repeated evolution. First, the apparent evolution of similar traits by gene reuse can be traced back to two alternatives, either several independent causative mutations or a single original mutational event followed by sorting processes. Second, hotspots of evolution-defined as the repeated occurrence of de novo mutations at orthologous loci and causing similar phenotypic variation-are omnipresent in the literature with more than 100 examples covering various levels of analysis, including numerous gain-of-function events. Finally, several alleles of large effect have been shown to result from the aggregation of multiple small-effect mutations at the same hotspot locus, thus reconciling micromutationist theories of adaptation with the empirical observation of large-effect variants. Although data heterogeneity and experimental biases prevented us from extracting quantitative trends, our synthesis highlights the existence of genetic paths of least resistance leading to viable evolutionary change.
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Cites
Convergent adaptation of human lactase persistence in Africa and Europe
Tishkoff, S. A., Reed, F. A., Ranciaro, A., Voight, B. F., Babbitt, C. C., Silverman, J. S., Powell, K., Mortensen, H. M., Hirbo, J. B., Osman, M., et al. (2007) · Nature Genetics · doi:10.1038/ng1946 · Cited by 1,615
The mystery of missing heritability: Genetic interactions create phantom heritability
Zuk, O., Hechter, E., Sunyaev, S. R., & Lander, E. S. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1119675109 · Cited by 1,542
Widespread parallel evolution in sticklebacks by repeated fixation of Ectodysplasin alleles.
Colosimo, P. F., Hosemann, K. E., Balabhadra, S., Villarreal, G., Dickson, M., Grimwood, J., Schmutz, J., Myers, R. M., Schluter, D., & Kingsley, D. M. (2005) · Science · doi:10.1126/science.1107239 · Cited by 1,448
Cis-regulatory elements: Molecular mechanisms and evolutionary processes underlying divergence
Wittkopp, P. J., & Kalay, G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3095 · Cited by 1,231
Transfer of carbohydrate-active enzymes from marine bacteria to Japanese gut microbiota
Hehemann, J.-H., Correc, G., Barbeyron, T., Helbert, W., Czjzek, M., & Michel, G. (2010) · Nature · doi:10.1038/nature08937 · Cited by 1,117
The Molecular Diversity of Adaptive Convergence
Tenaillon, O., Rodríguez-Verdugo, A., Gaut, R. L., McDonald, P., Bennett, A. F., Long, A. D., & Gaut, B. S. (2012) · Science · doi:10.1126/science.1212986 · Cited by 815
Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism
Protas, M. E., Hersey, C., Kochanek, D., Zhou, Y., Wilkens, H., Jeffery, W. R., Zon, L. I., Borowsky, R., & Tabin, C. J. (2006) · Nature Genetics · doi:10.1038/ng1700 · Cited by 543
Gresham, D., Desai, M. M., Tucker, C. M., Jenq, H. T., Pai, D. A., Ward, A., DeSevo, C. G., Botstein, D., & Dunham, M. J. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000303 · Cited by 482
Molecular and Evolutionary History of Melanism in North American Gray Wolves
Anderson, T. M., vonHoldt, B. M., Candille, S. I., Musiani, M., Greco, C., Stahler, D. R., Smith, D. W., Padhukasahasram, B., Randi, E., Leonard, J. A., et al. (2009) · Science · doi:10.1126/science.1165448 · Cited by 416
Morphological evolution through multiple cis-regulatory mutations at a single gene
McGregor, A. P., Orgogozo, V., Delon, I., Zanet, J., Srinivasan, D. G., Payre, F., & Stern, D. L. (2007) · Nature · doi:10.1038/nature05988 · Cited by 306
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Rittschof, C. C., Bukhari, S. A., Sloofman, L. G., Troy, J. M., Caetano-Anollés, D., Cash-Ahmed, A., Kent, M., Lu, X., Sanogo, Y. O., Weisner, P. A., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1420369111 · Cited by 163
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The probability of parallel genetic evolution from standing genetic variation
MacPherson, A., & Nuismer, S. L. (2017) · Journal of Evolutionary Biology · doi:10.1111/jeb.13006 · Cited by 79
Fukushima, K., & Pollock, D. D. (2023) · Nature Ecology & Evolution · doi:10.1038/s41559-022-01932-7 · Cited by 55
Podobnik, M., Frohnhöfer, H. G., Dooley, C. M., Eskova, A., Nüsslein-Volhard, C., & Irion, U. (2020) · Nature Communications · doi:10.1038/s41467-020-20021-6 · Cited by 26
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Metadata
- Authors
- Martin, A., & Orgogozo, V.
- Venue
- Evolution
- Publisher
- Oxford University Press (OUP)
- Published
- 2013-03
- Volume
- 67
- Issue
- 5
- Pages
- n/a-n/a
- ISSN
- 0014-3820 (ISSN-L)
- OpenAlex
- W2115669899
- Cited by
- 497
- References
- 13
- FWCI
- 29.54
- Type
- journal article
- Language
- en
- Open access
- closed
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