Charles Robin a , Richard F. Lyman b , Anthony D. Long c , Charles H. Langley d , and Trudy F. C. Mackay b a Centre for Environmental Stress and Adaptation Research, Department of Genetics, University of Melbourne, Victoria, 3010, Australia, b Department of Genetics and W. M. Keck Center for Behavioral Biology, North Carolina State University, Raleigh, North Carolina 27695-7614, c Department of Ecology and Evolutionary Biology, University of California, Irvine, California 92697-2525 d Center for Population Biology and Section of Evolution and Ecology, University of California, Davis, California 95616-8554 Corresponding author: Trudy F. C. Mackay, Campus Box 7614, North Carolina State University, Raleigh, NC 27695-7614., firstname.lastname@example.org (E-mail) Communicating editor: W. S TEPHAN Advances in medicine, agriculture, and an understanding of evolution depend on resolving the genetic architecture of quantitative traits, which is challenging since variation for complex traits is caused by multiple interacting quantitative trait loci (QTL) with small and conditional effects. Here, we show that the key developmental gene, hairy ( h ), is a QTL for Drosophila sternopleural bristle number, a model quantitative trait. Near-isoallelic lines (NIL) for the h gene region exhibited significant variation in bristle number and failed to complement a hairy mutation. Sequencing 10 h alleles from a single population revealed 330 polymorphic sites in ∼10 kb. Genotypes for 25 of these and 14 additional sites in the flanking regions were determined for the 57 NIL and associated with variation in bristle number in four genetic backgrounds. A highly significant association was found for a complicated insertion/deletion polymorphism upstream of the transcription start site. This polymorphism, present in 17.5% of the h alleles, was associated with an increase of 0.5 bristle and accounted for 31% of the genetic variance in bristle number in the NIL.
Genetics – Genetics Society of America
Published: Sep 1, 2002
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