title: How repeatable are associations between polymorphisms in achaete-scute and bristle number variation in Drosophila?
abstract: Currently, the relevance of common genetic variants--particularly those significantly associated with phenotypic variation in laboratory studies--to standing phenotypic variation in the wild is poorly understood. To address this, we quantified the relationship between achaete-scute complex (ASC) polymorphisms and Drosophila bristle number phenotypes in several new population samples. MC22 is a biallelic, nonrepetitive-length polymorphism 97 bp downstream of the scute transcript. It has been previously shown to be associated with sternopleural bristle number variation in both sexes in a set of isogenic lines. We replicated this association in a large cohort of wild-caught Drosophila melanogaster. We also detected a significant association at MC22 in an outbred population maintained under laboratory conditions for approximately 25 years, but the phenotypic effects in this sample were opposite from the direction estimated in the initial study. Finally, no significant associations were detected in a second large wild-caught cohort or in a set of 134 nearly isogenic lines. Our ability to repeat the initial association in wild samples suggests that it was not spurious. Nevertheless, inconsistent results from the other three panels suggest that the relationship between polymorphic genetic markers and loci contributing to continuous variation is not a simple one.
authors.affiliation: Department of Ecology and Evolutionary Biology, University of California, Irvine, California 92697, USA. gruberjd@uci.edu
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Gruber
authors.forename: Anne
authors.initials: A
authors.lastname: Genissel
authors.forename: Stuart J
authors.initials: SJ
authors.lastname: Macdonald
authors.forename: Anthony D
authors.initials: AD
authors.lastname: Long
mesh_terms: D000825:Animal Structures / Q000033:anatomy & histology; D000818:Animals; D000835:Animals, Wild / Q000033:anatomy & histology / Q000235:genetics; D001483:Base Sequence; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D002140:California; D004247:DNA / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D029721:Drosophila Proteins / Q000235:genetics*; D004331:Drosophila melanogaster / Q000033:anatomy & histology* / Q000235:genetics*; D004777:Environment; D004843:Epistasis, Genetic; D005260:Female; D017344:Genes, Insect; D014644:Genetic Variation; D005828:Genetics, Population; D005838:Genotype; D015810:Linkage Disequilibrium; D008297:Male; D011110:Polymorphism, Genetic; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D004247:DNA; D004268:DNA-Binding Proteins; D029721:Drosophila Proteins; D014157:Transcription Factors; C089199:ac protein, Drosophila; C089197:sc protein, Drosophila