Estimation of Inbreeding Depression From Overdominant Loci Using Molecular Markers

IF 3.2 2区 生物学 Q1 EVOLUTIONARY BIOLOGY Evolutionary Applications Pub Date : 2025-03-13 DOI:10.1111/eva.70085
Inés González-Castellano, Pilar Ordás, Armando Caballero
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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 (F) 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 F 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 F. 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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利用分子标记估计过显性基因座近交抑制
近交抑制是种群和保护遗传学中一个高度相关的普遍现象,因为它会导致个体适应性的下降。这种现象是由于等位基因的纯合子表达,其作用隐藏在杂合子(近交负荷)中。如果个体的近交系数(F)已知,就可以量化数量性状的近交抑制率。该系数可以通过谱系或分子标记(如snp)的信息来估计,使用个体标记的纯合性测量或整个基因组的纯合性(ROH)。一些研究调查了不同的F测量来估计近交抑制的准确性,但总是假设这只是由于隐性或部分隐性有害突变。尽管如此,近亲繁殖抑制的部分原因可能是由于具有显性基因作用的变异(杂合子优势)。在本研究中,我们进行了计算机模拟,以评估基于不同f值的超显性对近交衰退估计的影响。结果表明,当这是由于过显性位点时,基于ROH的估计提供了最可靠的近交衰退估计。根据低频等位基因是否在分析中被丢弃,使用单个标记纯合性测量的估计器可能会提供具有重大偏差的估计;但在这些逐个snp的测量中,那些基于统一配子之间相关性的测量通常是最可靠的。
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来源期刊
Evolutionary Applications
Evolutionary Applications 生物-进化生物学
CiteScore
8.50
自引率
7.30%
发文量
175
审稿时长
6 months
期刊介绍: Evolutionary Applications is a fully peer reviewed open access journal. It publishes papers that utilize concepts from evolutionary biology to address biological questions of health, social and economic relevance. Papers are expected to employ evolutionary concepts or methods to make contributions to areas such as (but not limited to): medicine, agriculture, forestry, exploitation and management (fisheries and wildlife), aquaculture, conservation biology, environmental sciences (including climate change and invasion biology), microbiology, and toxicology. All taxonomic groups are covered from microbes, fungi, plants and animals. In order to better serve the community, we also now strongly encourage submissions of papers making use of modern molecular and genetic methods (population and functional genomics, transcriptomics, proteomics, epigenetics, quantitative genetics, association and linkage mapping) to address important questions in any of these disciplines and in an applied evolutionary framework. Theoretical, empirical, synthesis or perspective papers are welcome.
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