Genetics. Published Articles Ahead of Print: February 4, 2007, Copyright © 2007
doi:10.1534/genetics.106.067108


A more recent version of this article appeared on April 1, 2007.


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How repeatable are associations between polymorphisms in achaete-scute and bristle number variation in Drosophila?

1 University of California, Irvine
2 University of California, Davis
3 University of Kansas

* To whom correspondence should be addressed. E-mail: gruberjd{at}uci.edu.

Submitted on October 23, 2006
Revised on December 2, 2006
Accepted on 20 January 2007


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 ~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 the relationship between polymorphic genetic markers and loci contributing to continuous variation is not a simple one.

Key Words: QTL, association study, bristle number, replication, single nucleotide polymorphism




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