Abstract：
The coat color phenotype \'sable\' occurs in the English Cocker Spaniel dog breed. It closely resembles other canine color patterns known as domino/grizzle/pied (eA allele) and grizzle/domino (eG allele) determined by variants in the melanocortin 1 receptor gene (MC1R; \'extension\' or E locus), a key multi-allele regulator of coat color. We examined genetic variation in MC1R, and found one new non-synonymous variant, c.250G>A (p.(Asp84Asn)), consistently associated with the English Cocker Spaniel \'sable\' phenotype. We propose calling this newly identified allele eH and further show that the eA , eH and eG (previously known as EG ) alleles associate with similar phenotypes in dogs impacting genotypes regulated by beta-defensin 103 gene (CBD103; K locus) and agouti signaling protein gene (ASIP; A locus) in the absence of the EM and E alleles. This suggests that all three alleles are putative reduced-function variants of the MC1R gene. We propose the revised and updated E locus dominance hierarchy to be EM > E > eA /eH /eG > e1-3 .
摘要：
外套颜色表型“黑貂”出现在英国可卡西班牙犬品种中。它非常类似于由黑皮质素1受体基因（MC1R;'延伸'或E基因座）中的变体确定的其他犬类颜色模式，称为多米诺/灰色/斑点（eA等位基因）和灰色/多米诺（eG等位基因），一个关键的多等位基因调节因子.我们检查了MC1R的遗传变异，发现了一个新的非同义变体，c.250G>A（p。（Asp84Asn）），始终与英国可卡犬“黑貂”表型相关。我们建议将这个新鉴定的等位基因称为eH，并进一步表明eA，eH和eG（以前称为EG）等位基因与狗中的相似表型相关，影响在不存在EM和E等位基因的情况下由β-防御素103基因（CBD103;K基因座）和刺鼠信号蛋白基因（ASIP;A基因座）调节的基因型。这表明所有三个等位基因都是MC1R基因的推定功能降低的变体。我们建议修改和更新的E基因座优势等级为EM>E>eA/eH/eG>e1-3。
