期刊
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
卷 112, 期 50, 页码 15390-15395出版社
NATL ACAD SCIENCES
DOI: 10.1073/pnas.1503027112
关键词
gene expression; population genomics; association mapping
资金
- Genome Quebec/Genome Canada
- National Science Foundation Graduate Research Fellowship [DGE-1048376]
- Natural Sciences and Engineering Research Council of Canada
- Canadian Foundation for Innovation
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.
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