Nov 26, 2015

Association mapping reveals the role of purifying selection in the maintenance of genomic variation in gene expression

Proceedings of the National Academy of Sciences of the United States of America
Emily B JosephsStephen I Wright


The evolutionary forces that maintain genetic variation in quantitative traits within populations remain poorly understood. One hypothesis suggests that variation is under purifying selection, resulting 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 the effects of purifying selection.

  • References34
  • Citations17


Mentioned in this Paper

Quantitative Trait Loci
Genes, Plant
Abnormal Degeneration
Untranslated Regions
Cistanthe grandiflora
Coursetia grandiflora
Callicarpa rubella

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