Estimation of Inbreeding Depression From Overdominant Loci Using Molecular Markers

Inbreeding depression is a highly relevant universal phenomenon in population and conservation genetics since it leads to a decline in the fitness of individuals. This phenomenon is due to the homozygous expression of alleles whose effects are hidden in heterozygotes (inbreeding load). The rate of inbreeding depression for quantitative traits can be quantified if the coefficient of inbreeding (<i>F</i>) of individuals is known. This coefficient can be estimated from pedigrees or from the information of molecular markers, such as SNPs, using measures of homozygosity of individual markers or runs of homozygosity (ROH) across the genome. Several studies have investigated the accuracy of different <i>F</i> measures to estimate inbreeding depression, but always assuming that this is only due to recessive or partially recessive deleterious mutations. It is possible, though, that part of the inbreeding depression is due to variants with overdominant gene action (heterozygote advantage). In this study, we carried out computer simulations to assess the impact of overdominance on the estimation of inbreeding depression based on different measures of <i>F</i>. The results indicate that the estimators based on ROH provide the most robust estimates of inbreeding depression when this is due to overdominant loci. The estimators that use measures of homozygosity from individual markers may provide estimates with substantial biases, depending on whether or not low-frequency alleles are discarded in the analyses; but among these SNP-by-SNP measures, those based on the correlation between uniting gametes are generally the most reliable.

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Publication Details

Journal
Evolutionary Applications
Published
2025-03-01
DOI
https://doi.org/10.1111/eva.70085
Citations
2
Primary Topic
Genetic and phenotypic traits in livestock
Type
article
Field-Weighted Citation Impact
3.63

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article

Estimation of Inbreeding Depression From Overdominant Loci Using Molecular Markers

Armando Caballero, Inés González‐Castellano, Pilar Ordás
2 citations
Evolutionary Applications
Genetic and phenotypic traits in livestock
3.63
article

Estimation of Inbreeding Depression From Overdominant Loci Using Molecular Markers

Armando Caballero, Inés González‐Castellano, Pilar Ordás
article en
2 citations

Abstract

Inbreeding depression is a highly relevant universal phenomenon in population and conservation genetics since it leads to a decline in the fitness of individuals. This phenomenon is due to the homozygous expression of alleles whose effects are hidden in heterozygotes (inbreeding load). The rate of inbreeding depression for quantitative traits can be quantified if the coefficient of inbreeding (<i>F</i>) of individuals is known. This coefficient can be estimated from pedigrees or from the information of molecular markers, such as SNPs, using measures of homozygosity of individual markers or runs of homozygosity (ROH) across the genome. Several studies have investigated the accuracy of different <i>F</i> measures to estimate inbreeding depression, but always assuming that this is only due to recessive or partially recessive deleterious mutations. It is possible, though, that part of the inbreeding depression is due to variants with overdominant gene action (heterozygote advantage). In this study, we carried out computer simulations to assess the impact of overdominance on the estimation of inbreeding depression based on different measures of <i>F</i>. The results indicate that the estimators based on ROH provide the most robust estimates of inbreeding depression when this is due to overdominant loci. The estimators that use measures of homozygosity from individual markers may provide estimates with substantial biases, depending on whether or not low-frequency alleles are discarded in the analyses; but among these SNP-by-SNP measures, those based on the correlation between uniting gametes are generally the most reliable.

Evolutionary ApplicationsVol. 18(3)
Universidade da Coruña (ES), Universidade de Vigo (ES)
Ministerio de Ciencia, Innovación y Universidades, European Commission, Ministerio de Ciencia e Innovación, Xunta de Galicia, Centro Singular de Investigación de Galicia, European Regional Development Fund, Agencia Estatal de Investigación
Life in Land
Openalex Percentile: Top 9%
Genetic and phenotypic traits in livestock
3.63
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