Feb 26, 2015

Association mapping reveals the role of mutation-selection balance in the maintenance of genomic variation for gene expression.

BioRxiv : the Preprint Server for Biology
Emily B JosephsStephen I Wright


The evolutionary forces that maintain genetic variation for quantitative traits within populations remain poorly understood. One hypothesis suggests that variation is maintained by a balance between new mutations and their removal by selection and drift. Theory predicts that this mutation-selection balance will result in an excess of low-frequency variants and a negative correlation between minor allele frequency and selection coefficients. Here, we test these predictions using the genetic loci associated with total expression variation (eQTLs) and allele-specific expression variation (aseQTLs) mapped within a single population of the plant Capsella grandiflora. In addition to finding eQTLs and aseQTLs for a large fraction of genes, we show that alleles at these loci are rarer than expected and exhibit a negative correlation between phenotypic effect size and frequency. Overall, our results show that the distribution of frequencies and effect sizes of the loci responsible for local expression variation within a single, outcrossing population are consistent with mutation-selection balance.

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Mentioned in this Paper

Gene Expression
Capsella grandiflora
Genetic Loci
Mutation Abnormality
Population Group
EAF2 gene

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