Journal
GENETICS
Volume 219, Issue 3, Pages -Publisher
GENETICS SOCIETY AMERICA
DOI: 10.1093/genetics/iyab094
Keywords
population genetics; selective sweeps; genetic hitchhiking; deleterious mutations
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Funding
- National Institutes of Health [R01GM135899, R35GM139383]
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The fixation time of deleterious mutations is similar to advantageous mutations in a randomly mating population, suggesting potential selective sweep-like effects. While deleterious fixations may not significantly impact polymorphism-based genomic scans within populations, they can influence private variant proportions and F-ST values after population splits. Interpretations of recurrent positive selection in functional genomic regions affected by deleterious mutations may need to be reconsidered.
It has previously been shown that, conditional on its fixation, the time to fixation of a semi-dominant deleterious autosomal mutation in a randomly mating population is the same as that of an advantageous mutation. This result implies that deleterious mutations could generate selective sweep-like effects. Although their fixation probabilities greatly differ, the much larger input of deleterious relative to beneficial mutations suggests that this phenomenon could be important. We here examine how the fixation of mildly deleterious mutations affects levels and patterns of polymorphism at linked sites-both in the presence and absence of interference amongst deleterious mutations-and how this class of sites may contribute to divergence between-populations and species. We find that, while deleterious fixations are unlikely to represent a significant proportion of outliers in polymorphism-based genomic scans within populations, minor shifts in the frequencies of deleterious mutations can influence the proportions of private variants and the value of F-ST after a recent population split. As sites subject to deleterious mutations are necessarily found in functional genomic regions, interpretations in terms of recurrent positive selection may require reconsideration.
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