2023
DOI: 10.1016/j.tree.2023.05.008
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Purging and accumulation of genetic load in conservation

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Cited by 55 publications
(34 citation statements)
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“…Despite this past signature of efficient positive and purifying selection, recent reduction of population size has resulted in segregation of deleterious nonsynonymous variants at intermediate allele frequencies in the captive population as can be seen in the population-level analyses (Figure 4a,b; Figure S12), as expected by theory(Dussex et al, 2023). Sites containing putative high-impact variants deviated from HWE and were enriched for the ancestral homozygous genotype, confirming their deleteriousness (Figure4c,d).…”
supporting
confidence: 67%
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“…Despite this past signature of efficient positive and purifying selection, recent reduction of population size has resulted in segregation of deleterious nonsynonymous variants at intermediate allele frequencies in the captive population as can be seen in the population-level analyses (Figure 4a,b; Figure S12), as expected by theory(Dussex et al, 2023). Sites containing putative high-impact variants deviated from HWE and were enriched for the ancestral homozygous genotype, confirming their deleteriousness (Figure4c,d).…”
supporting
confidence: 67%
“…Small N e also increases the chance of inbreeding, which in turn unmasks the deleterious alleles as they become homozygous (Dussex et al, 2023). Mean absolute fitness drops initially due to this realized load but recovers or even surpasses the outbreeding ancestors thanks to stronger selection, a process termed purging (Barrett & Charlesworth, 1991;Dussex et al, 2023). Nevertheless, due to the easier fixation of slightly deleterious mutations, prolonged bottlenecks overall increase realized load (Bertorelle et al, 2022;Ohta, 1973).…”
Section: Introductionmentioning
confidence: 99%
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“…The fitness and viability of small populations are influenced by the distribution, frequency, and severity of deleterious genetic load (Bertorelle et al, 2022;Kardos et al, 2021). As genetic drift exceeds the strength of purifying selection, deleterious alleles can increase in frequency and become fixed, causing a "mutational meltdown" (Dussex et al, 2023;Lynch et al, 1995). Although smaller populations tend to accumulate mildly to moderately deleterious alleles at higher frequencies, large populations harbor more highly deleterious alleles segregating at low frequencies, termed inbreeding load or masked load (Bertorelle et al, 2022;Hedrick & García-Dorado, 2016).…”
Section: Introductionmentioning
confidence: 99%