PDF(Pubmed)
Abstract：
Plumage color is an artificially and naturally selected trait in domestic ducks. Black, white, and spotty are the main feather colors in domestic ducks. Previous studies have shown that black plumage color is caused by MC1R, and white plumage color is caused by MITF. We performed a genome-wide association study (GWAS) to identify candidate genes associated with white, black, and spotty plumage in ducks. Two non-synonymous SNPs in MC1R (c.52G>A and c.376G>A) were significantly related to duck black plumage, and three SNPs in MITF (chr13:15411658A>G, chr13:15412570T>C and chr13:15412592C>G) were associated with white plumage. Additionally, we also identified the epistatic interactions between causing loci. Some ducks with white plumage carry the c.52G>A and c.376G>A in MC1R, which also compensated for black and spotty plumage color phenotypes, suggesting that MC1R and MITF have an epistatic effect. The MITF locus was supposed to be an upstream gene to MC1R underlying the white, black, and spotty colors. Although the specific mechanism remains to be further clarified, these findings support the importance of epistasis in plumage color variation in ducks.
摘要：
羽毛颜色是家鸭中人工和自然选择的特征。黑色,白色,斑点是家鸭的主要羽毛颜色。以前的研究表明，黑色羽毛颜色是由MC1R引起的，白色的羽毛颜色是由MITF引起的。我们进行了全基因组关联研究（GWAS），以确定与白色相关的候选基因，黑色,鸭子的羽毛参差不齐。MC1R中的两个非同义SNP(c.52G>A和c.376G>A)与鸭黑羽毛显著相关,和MITF中的三个SNP(chr13：15411658A>G，chr13：15412570T>C和chr13：15412592C>G）与白色羽毛有关。此外,我们还确定了致病基因座之间的上位相互作用。一些白色羽毛的鸭子在MC1R中带有c.52G>A和c.376G>A，这也补偿了黑色和斑点的羽毛颜色表型，表明MC1R和MITF具有上位效应。MITF基因座被认为是白色的MC1R的上游基因，黑色,和斑点的颜色。虽然具体机制还有待进一步明确,这些发现支持了上位性在鸭子羽毛颜色变化中的重要性。
