Farrell Lindsay L, Küpper Clemens, Burke Terry, Lank David B
From the Department of Animal and Plant Sciences, University of Sheffield, Sheffield S10 2TN, UK (Farrell, Küpper, and Burke); and the Department of Biological Sciences, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada (Farrell and Lank). Lindsay L. Farrell is now at Roslin Institute, University of Edinburgh, Easter Bush Campus, Midlothian EH25 9RG, UK.
J Hered. 2015 Mar-Apr;106(2):211-5. doi: 10.1093/jhered/esu079. Epub 2014 Dec 22.
Sequence variation in the melanocortin-1 receptor (MC1R) gene explains color morph variation in several species of birds and mammals. Ruffs (Philomachus pugnax) exhibit major dark/light color differences in melanin-based male breeding plumage which is closely associated with alternative reproductive behavior. A previous study identified a microsatellite marker (Ppu020) near the MC1R locus associated with the presence/absence of ornamental plumage. We investigated whether coding sequence variation in the MC1R gene explains major dark/light plumage color variation and/or the presence/absence of ornamental plumage in ruffs. Among 821bp of the MC1R coding region from 44 male ruffs we found 3 single nucleotide polymorphisms, representing 1 nonsynonymous and 2 synonymous amino acid substitutions. None were associated with major dark/light color differences or the presence/absence of ornamental plumage. At all amino acid sites known to be functionally important in other avian species with dark/light plumage color variation, ruffs were either monomorphic or the shared polymorphism did not coincide with color morph. Neither ornamental plumage color differences nor the presence/absence of ornamental plumage in ruffs are likely to be caused entirely by amino acid variation within the coding regions of the MC1R locus. Regulatory elements and structural variation at other loci may be involved in melanin expression and contribute to the extreme plumage polymorphism observed in this species.
黑皮质素-1受体（MC1R）基因的序列变异解释了几种鸟类和哺乳动物的毛色变异。流苏鹬（Philomachus pugnax）在基于黑色素的雄性繁殖羽上表现出明显的深色/浅色差异，这与替代繁殖行为密切相关。先前的一项研究在MC1R基因座附近鉴定出一个微卫星标记（Ppu020），它与装饰性羽毛的有无相关。我们研究了MC1R基因的编码序列变异是否能解释流苏鹬主要的深色/浅色羽毛颜色变异和/或装饰性羽毛的有无。在44只雄性流苏鹬的MC1R编码区的821bp中，我们发现了3个单核苷酸多态性，代表1个非同义氨基酸替换和2个同义氨基酸替换。没有一个与主要的深色/浅色差异或装饰性羽毛的有无相关。在已知对其他具有深色/浅色羽毛颜色变异的鸟类物种功能重要的所有氨基酸位点上，流苏鹬要么是单态的，要么共享的多态性与毛色变异不一致。流苏鹬的装饰性羽毛颜色差异和装饰性羽毛的有无都不太可能完全由MC1R基因座编码区内的氨基酸变异引起。其他基因座的调控元件和结构变异可能参与黑色素表达，并导致该物种观察到的极端羽毛多态性。
