Genome-wide association analysis identifies potential regulatory genes for eumelanin pigmentation in chicken plumage

Plumage color in chicken is determined by the proportion of eumelanin and pheomelanin pigmentation. As the main ingredient in plumage melanin, eumelanin plays a key role in the dark black, brown and grey coloration. However, very few studies have been performed to identify the related genes and mutations on a genome-wide scale. Herein, a resource family consisting of one backcross population and two F2 cross populations between a black roster and Yukou Brown I parent stockbreed was constructed for identification of genes related to eumelanin pigmentation. Chickens with eumelanin in their plumage were classified as the case group, and the rest were considered the control group. A genome-wide association study of this phenotype and genotypes using Affymetrix 600K HD SNP arrays in this F2 family revealed 13 significantly associated SNPs and in 10 separate genes on chromosomes 1, 2, 3 and 5. Based on previous studies in model species, we inferred that genes, including NUAK family kinase 1 (...

鸡的羽毛颜色由真黑色素（eumelanin）与褐黑色素（pheomelanin）的色素沉着比例决定。作为羽毛黑色素的主要成分，真黑色素在深黑、棕及灰色着色中发挥关键作用。然而，在全基因组范围内鉴定相关基因及突变的研究尚十分有限。为此，本研究构建了一个资源家系，包含一只黑羽公鸡与Yukou Brown I亲本种鸡杂交产生的1个回交群体（backcross population）及2个F2杂交群体（F2 cross population），旨在鉴定与真黑色素色素沉着相关的基因。将羽毛中含真黑色素的鸡归为病例组，其余则作为对照组。利用Affymetrix 600K HD SNP芯片（Affymetrix 600K HD SNP arrays）对该F2家系的表型与基因型进行全基因组关联研究（genome-wide association study），结果发现13个显著关联的单核苷酸多态性位点（SNP），分布于1、2、3及5号染色体上的10个独立基因中。基于模式物种的既往研究，我们推测包括NUAK家族激酶1（NUAK family kinase 1）在内的基因……