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

Emily B. Josephs, Young Wha Lee, John R. Stinchcombe, Stephen I. Wright
doi: https://doi.org/10.1101/015743
Emily B. Josephs
Dept. of Ecology and Evolutionary Biology, University of Toronto, 25 Willcocks st., Toronto ON, M6R 1M3, Canada.
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  • For correspondence: emjosephs@utoronto.ca
Young Wha Lee
Dept. of Ecology and Evolutionary Biology, University of Toronto, 25 Willcocks st., Toronto ON, M6R 1M3, Canada.
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John R. Stinchcombe
Dept. of Ecology and Evolutionary Biology, University of Toronto, 25 Willcocks st., Toronto ON, M6R 1M3, Canada.
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Stephen I. Wright
Dept. of Ecology and Evolutionary Biology, University of Toronto, 25 Willcocks st., Toronto ON, M6R 1M3, Canada.
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Abstract

The evolutionary forces that maintain genetic variation for quantitative traits within populations remain unknown. 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 effect size and frequency. Overall, our results show that mutation-selection balance is the dominant contributor to genomic variation for expression within a single, outcrossing population.

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Posted February 26, 2015.
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Association mapping reveals the role of mutation-selection balance in the maintenance of genomic variation for gene expression
Emily B. Josephs, Young Wha Lee, John R. Stinchcombe, Stephen I. Wright
bioRxiv 015743; doi: https://doi.org/10.1101/015743
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Association mapping reveals the role of mutation-selection balance in the maintenance of genomic variation for gene expression
Emily B. Josephs, Young Wha Lee, John R. Stinchcombe, Stephen I. Wright
bioRxiv 015743; doi: https://doi.org/10.1101/015743

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