期刊
GENETICS
卷 181, 期 2, 页码 661-670出版社
GENETICS SOCIETY AMERICA
DOI: 10.1534/genetics.108.098459
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资金
- National Science Foundation [DEB-0614429]
- National Institutes of Health [5T15 LM007443]
- Achievement Rewards for College Scientists Foundation of Orange County
Gene expression levels vary heritably, with similar to 25-35% of the loci affecting expression acting in cis. We characterized standing cis-regulatory variation among 16 wild-derived strains of Drosophila melanogaster Our experiment's robust biological and technical replication enabled precise estimates of variation in allelic expression on a high-through Put SNP genotyping platform. We observed concordant, significant differential allelic expression (DAE) in 7/10 genes queried with Multiple SNPs, and every member of a set of eight additional, one-assay genes suggest significant DAE. Four of the high-confidence, multiple-assay genes harbor three or more statistically distinguishable allelic classes, often at intermediate frequency. Numerous intermediate-frequency, detectable regulatory polymorphisms cast doubt on a model in which cis-acting variation is a product of deleterious mutations of large effect. Comparing our data to predictions of population genetics theory using coalescent simulations, we estimate that a typical gene harbors 7-15 cis-regulatory sites (nucleotides) at which a selectively neutral mutation would elicitan observable expression phenotype. If standing cis-regulatory variation is actually slightly deleterious, the true mutational target size is larger.
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