Quantifying the fraction of new mutations that are recessive lethal

• DOI: 10.1093/evolut/qpad061
• Publication Date: 2023-04-19T16:30:54Z
• Authors: Emma E Wade; Christopher C Kyr...; Maria Izabel A Ca...; Kirk E Lohmueller
• Keywords: Fraction (chemistry)

Abstract The presence and impact of recessive lethal mutations have been widely documented in diploid outcrossing species. However, precise estimates the proportion new that are remain limited. Here, we evaluate performance Fit∂a∂i, a commonly used method for inferring distribution fitness effects (DFE), mutations. Using simulations, demonstrate both additive cases, inference deleterious nonlethal portion DFE is minimally affected by small (<10%) Additionally, while Fit∂a∂i cannot estimate fraction mutations, can accurately infer Finally, as an alternative approach to lethal, employ models mutation–selection–drift balance using existing genomic parameters segregating lethals humans Drosophila melanogaster. In species, load be explained very (<1%) nonsynonymous being lethal. Our results refute recent assertions much higher (4%–5%), highlighting need additional information on joint selection dominance coefficients.