ArticleEvolution; international journal of organic evolution2023
Quantifying the fraction of new mutations that are recessive lethal.
Article in Evolution; international journal of organic evolution, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- The distribution of fitness effects of nonsynonymous mutations varies phylogenetically across animals.PLoS biology · 2026Article
- The impact of non-neutral synonymous mutations when inferring selection on nonsynonymous mutations.Genetics · 2025Article
- Accessible, Realistic Genome Simulation with Selection Using stdpopsim.Molecular biology and evolution · 2025Article
- Accessible, realistic genome simulation with selection using stdpopsim.bioRxiv : the preprint server for biology · 2025Article
- Conceptualizing phytoplankton communities in the absence of resource based competitive exclusion.Scientific reports · 2025Article
- Hill-Robertson interference may bias the inference of fitness effects of new mutations in highly selfing species.Evolution; international journal of organic evolution · 2025Article
- Hill-Robertson interference may bias the inference of fitness effects of new mutations in highly selfing species.bioRxiv : the preprint server for biology · 2024Article
- Constraining models of dominance for nonsynonymous mutations in the human genome.PLoS genetics · 2024Article
- The influence of gene flow on population viability in an isolated urban caracal population.Molecular ecology · 2024Article
- Using Computational Simulations to Model Deleterious Variation and Genetic Load in Natural Populations.The American naturalist · 2023Review
- Inferring the distributions of fitness effects and proportions of strongly deleterious mutations.G3 (Bethesda, Md.) · 2023Article
- Digest: Few new mutations are recessive lethal.Evolution; international journal of organic evolution · 2023Article
- Models based on best-available information support a low inbreeding load and potential for recovery in the vaquita.Heredity · 2023Article
- Some hope and many concerns on the future of the vaquita.Heredity · 2023Article
- Genomic Underpinnings of Population Persistence in Isle Royale Moose.Molecular biology and evolution · 2023Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
The presence and impact of recessive lethal mutations have been widely documented in diploid outcrossing species. However, precise estimates of the proportion of new mutations that are recessive lethal remain limited. Here, we evaluate the performance of Fit∂a∂i, a commonly used method for inferring the distribution of fitness effects (DFE), in the presence of lethal mutations. Using simulations, we demonstrate that in both additive and recessive cases, inference of the deleterious nonlethal portion of the DFE is minimally affected by a small proportion (<10%) of lethal mutations. Additionally, we demonstrate that while Fit∂a∂i cannot estimate the fraction of recessive lethal mutations, Fit∂a∂i can accurately infer the fraction of additive lethal mutations. Finally, as an alternative approach to estimate the proportion of mutations that are recessive lethal, we employ models of mutation-selection-drift balance using existing genomic parameters and estimates of segregating recessive lethals for humans and Drosophila melanogaster. In both species, the segregating recessive lethal load can be explained by a very small fraction (<1%) of new nonsynonymous mutations being recessive lethal. Our results refute recent assertions of a much higher proportion of mutations being recessive lethal (4%-5%), while highlighting the need for additional information on the joint distribution of selection and dominance coefficients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.