title: Genetic basis of natural variation in body pigmentation in Drosophila melanogaster.
abstract: Body pigmentation in insects and other organisms is typically variable within and between species and is often associated with fitness. Regulatory variants with large effects at bab1, t and e affect variation in abdominal pigmentation in several populations of Drosophila melanogaster. Recently, we performed a genome wide association (GWA) analysis of variation in abdominal pigmentation using the inbred, sequenced lines of the Drosophila Genetic Reference Panel (DGRP). We confirmed the large effects of regulatory variants in bab1, t and e; identified 81 additional candidate genes; and validated 17 candidate genes (out of 28 tested) using RNAi knockdown of gene expression and mutant alleles. However, these analyses are imperfect proxies for the effects of segregating variants. Here, we describe the results of an extreme quantitative trait locus (xQTL) GWA analysis of female body pigmentation in an outbred population derived from light and dark DGRP lines. We replicated the effects on pigmentation of 28 genes implicated by the DGRP GWA study, including bab1, t and e and 7 genes previously validated by RNAi and/or mutant analyses. We also identified many additional loci. The genetic architecture of Drosophila pigmentation is complex, with a few major genes and many other loci with smaller effects.
authors.affiliation: a Department of Biological Sciences ; North Carolina State University ; Raleigh , NC USA.|b Program in Genetics; North Carolina State University ; Raleigh , NC USA.|c W. M. Keck Center for Behavioral Biology; North Carolina State University ; Raleigh , NC USA.
authors.forename: Lauren M
authors.initials: LM
authors.lastname: Dembeck
authors.affiliation: a Department of Biological Sciences ; North Carolina State University ; Raleigh , NC USA.|b Program in Genetics; North Carolina State University ; Raleigh , NC USA.|c W. M. Keck Center for Behavioral Biology; North Carolina State University ; Raleigh , NC USA.
authors.forename: Wen
authors.initials: W
authors.lastname: Huang
authors.affiliation: a Department of Biological Sciences ; North Carolina State University ; Raleigh , NC USA.|b Program in Genetics; North Carolina State University ; Raleigh , NC USA.|c W. M. Keck Center for Behavioral Biology; North Carolina State University ; Raleigh , NC USA.
authors.forename: Mary Anna
authors.initials: MA
authors.lastname: Carbone
authors.affiliation: a Department of Biological Sciences ; North Carolina State University ; Raleigh , NC USA.|b Program in Genetics; North Carolina State University ; Raleigh , NC USA.|c W. M. Keck Center for Behavioral Biology; North Carolina State University ; Raleigh , NC USA.
authors.forename: Trudy F C
authors.initials: TF
authors.lastname: Mackay
mesh_terms: D000005:Abdomen; D000818:Animals; D029721:Drosophila Proteins / Q000235:genetics / Q000378:metabolism*; D004331:Drosophila melanogaster / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005786:Gene Expression Regulation / Q000502:physiology*; D055106:Genome-Wide Association Study; D010858:Pigmentation / Q000235:genetics / Q000502:physiology*; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci
chemical_list: D029721:Drosophila Proteins
keywords: Drosophila melanogaster Genetic Reference Panel; extreme QTL mapping; genome wide association study; quantitative genetics; replication study