Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck

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Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck

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Title: Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck
Author: Balick, Daniel J.; Do, Ron; Cassa, Christopher A.; Reich, David; Sunyaev, Shamil R.

Note: Order does not necessarily reflect citation order of authors.

Citation: Balick, Daniel J., Ron Do, Christopher A. Cassa, David Reich, and Shamil R. Sunyaev. 2015. “Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck.” PLoS Genetics 11 (8): e1005436. doi:10.1371/journal.pgen.1005436. http://dx.doi.org/10.1371/journal.pgen.1005436.
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Abstract: Population bottlenecks followed by re-expansions have been common throughout history of many populations. The response of alleles under selection to such demographic perturbations has been a subject of great interest in population genetics. On the basis of theoretical analysis and computer simulations, we suggest that this response qualitatively depends on dominance. The number of dominant or additive deleterious alleles per haploid genome is expected to be slightly increased following the bottleneck and re-expansion. In contrast, the number of completely or partially recessive alleles should be sharply reduced. Changes of population size expose differences between recessive and additive selection, potentially providing insight into the prevalence of dominance in natural populations. Specifically, we use a simple statistic, BR≡∑xipop1/∑xjpop2, where xi represents the derived allele frequency, to compare the number of mutations in different populations, and detail its functional dependence on the strength of selection and the intensity of the population bottleneck. We also provide empirical evidence showing that gene sets associated with autosomal recessive disease in humans may have a BR indicative of recessive selection. Together, these theoretical predictions and empirical observations show that complex demographic history may facilitate rather than impede inference of parameters of natural selection.
Published Version: doi:10.1371/journal.pgen.1005436
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552954/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:22857032
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