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

Proc Natl Acad Sci U S A. 2015 Dec 15;112(50):15390-5. doi: 10.1073/pnas.1503027112. Epub 2015 Nov 24.

Abstract

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.

Keywords: association mapping; gene expression; population genomics.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Alleles
  • Base Composition / genetics
  • Capsella / genetics*
  • Chromosome Mapping*
  • Gene Expression Regulation, Plant*
  • Gene Frequency / genetics
  • Genes, Plant
  • Genetic Variation*
  • Genome, Plant*
  • Linkage Disequilibrium / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Quantitative Trait Loci / genetics
  • Recombination, Genetic / genetics
  • Selection, Genetic*

Associated data

  • BioProject/PRJNA275635