Data from: The genetic inheritance of the blue-eyed white phenotype in alpacas (Vicugna pacos)

White spotting patterns in mammals can be caused by mutations in the gene KIT, whose protein is necessary for the normal migration and survival of melanocytes from the neural crest. The alpaca (Vicugna pacos) blue-eyed white phenotype (BEW) is characterized by two blue eyes and a solid white coat over the whole body. Breeders hypothesize that the BEW phenotype in alpacas is caused by the combination of the gene causing grey fleece and a white-spotting gene. We performed an association study using KIT flanking and intragenic markers with 40 unrelated alpacas, of which 17 were BEW. Two microsatellite alleles at KIT-related markers were significantly associated (P < 0.0001) with the BEW phenotype (bew1 and bew2). In a larger cohort of 171 related individuals we identify an abundance of an allele (bew1) in grey animals and the occurrence of bew2 homozygotes that are solid white with pigmented eyes. Association tests accounting for population structure and familial relatedness are consistent with a proposed model where these alleles are in linkage disequilibrium with a mutation or mutations that contribute to the BEW phenotype and to individual differences in fleece color.哺乳动物的白色斑纹表型可由KIT基因突变引发，该基因编码的蛋白质对于神经嵴来源的黑素细胞的正常迁移与存活至关重要。羊驼（Vicugna pacos）的蓝眼白色表型（BEW）以双眼呈蓝色、全身被毛纯白为特征。饲养者推测，羊驼的蓝眼白色表型由控制灰色被毛的基因与白斑基因共同导致。本研究采用KIT基因侧翼及基因内标记开展关联分析，共纳入40只无亲缘关系的羊驼，其中17只为蓝眼白色表型个体。KIT相关标记的两个微卫星等位基因（bew1与bew2）与蓝眼白色表型呈极显著关联（P < 0.0001）。在包含171个有亲缘关系个体的更大队列中，我们发现灰色羊驼中存在大量bew1等位基因，同时存在纯合携带bew2的个体，其表型为全身被毛纯白但虹膜带有色素。校正群体结构与家系亲缘关系的关联检验结果，与我们提出的模型一致：即这些等位基因与导致蓝眼白色表型及被毛颜色个体差异的一个或多个突变存在连锁不平衡。