A gene-based model of fitness and its implications for genetic variation: genetic and inbreeding loads

In the companion paper to this, we examined the consequences for patterns of linkage disequilibrium of the "gene" model of fitness, which postulates that the effects of recessive or partially recessive deleterious mutations located at different sites within a gene fail to complement each other. Here, we examine the consequences of the gene model for the genetic and inbreeding loads, using both analytical and simulation methods, and contrast it with the frequently used "sites" model that allows allelic complementation. We show that the gene model results in a slightly lower genetic load, but a much smaller inbreeding load, than the sites model, implying that standard predictions of mutational contributions to inbreeding depression may be overestimates. Synergistic epistasis between pairs of mutations was also modeled, and shown to considerably reduce the inbreeding load for both the gene and sites models. The theoretical results are discussed in relation to data on inbreeding load in Drosophila melanogaster. The widespread assumption that inbreeding depression is largely due to deleterious mutations should be re-examined in the light of our findings.

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Publication Details

Journal
Genetics
Published
2025-08-22
DOI
https://doi.org/10.1093/genetics/iyaf169
Citations
1
Primary Topic
Genetic and phenotypic traits in livestock
Type
article
Field-Weighted Citation Impact
1.82

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article

A gene-based model of fitness and its implications for genetic variation: genetic and inbreeding loads

Parul Johri, Brian Charlesworth
1 citations
Genetics
Genetic and phenotypic traits in livestock
1.82
article

A gene-based model of fitness and its implications for genetic variation: genetic and inbreeding loads

Parul Johri, Brian Charlesworth
article en
1 citations

Abstract

In the companion paper to this, we examined the consequences for patterns of linkage disequilibrium of the "gene" model of fitness, which postulates that the effects of recessive or partially recessive deleterious mutations located at different sites within a gene fail to complement each other. Here, we examine the consequences of the gene model for the genetic and inbreeding loads, using both analytical and simulation methods, and contrast it with the frequently used "sites" model that allows allelic complementation. We show that the gene model results in a slightly lower genetic load, but a much smaller inbreeding load, than the sites model, implying that standard predictions of mutational contributions to inbreeding depression may be overestimates. Synergistic epistasis between pairs of mutations was also modeled, and shown to considerably reduce the inbreeding load for both the gene and sites models. The theoretical results are discussed in relation to data on inbreeding load in Drosophila melanogaster. The widespread assumption that inbreeding depression is largely due to deleterious mutations should be re-examined in the light of our findings.

GeneticsVol. 231(3)
University of North Carolina at Chapel Hill (US), Centre for Immunity, Infection and Evolution (GB), University of Edinburgh (GB)
National Institutes of Health, University of North Carolina at Chapel Hill, National Institute of General Medical Sciences
Openalex Percentile: Top 13%
Genetic and phenotypic traits in livestock
1.82
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