Department of Population Health and Reproduction, University of California-Davis, Davis, CA 95616, USA.
Department of Pathology, Microbiology, and Immunology, University of California-Davis, Davis, CA 95616, USA.
Genes (Basel). 2020 Jan 9;11(1):75. doi: 10.3390/genes11010075.
Dogs exhibit a wide variety of coat color types, and many genes have been identified that control pigment production, appearance, and distribution. Some breeds, such as the Nova Scotia Duck Tolling Retriever (NSDTR), exhibit variation in pheomelanin pigment intensity that is not explained by known genetic variants. A genome-wide association study comparing light red to dark red in the NSDTR identified a significantly associated region on canine chromosome 15 (CFA 15:23 Mb-38 Mb). Coverage analysis of whole genome sequence data from eight dogs identified a 6 kb copy number variant (CNV) 152 kb upstream of . Genotyping with digital droplet PCR (ddPCR) confirmed a significant association between an increased copy number with the dark-red coat color in NSDTR ( = 6.1 × 10). The copy number of the CNV was also significantly associated with coat color variation in both eumelanin and pheomelanin-based Poodles ( = 1.5 × 10, 4.0 × 10) and across other breeds. Moreover, the copy number correlated with pigment intensity along the hair shaft in both pheomelanin and eumelanin coats. plays an important role in melanogenesis, and variants upstream of have been associated with coat color variation in mice as well as hair color in humans consistent with its role in the domestic dog.
狗表现出各种各样的毛色类型，许多控制色素产生、外观和分布的基因已经被确定。一些品种，如新斯科舍诱鸭寻回猎犬（NSDTR），表现出不同于已知遗传变异的真黑色素色素强度的变化。一项对 NSDTR 中浅红色与深红色的全基因组关联研究，确定了犬 15 号染色体（CFA15:23Mb-38Mb）上一个显著相关的区域。对来自 8 只狗的全基因组序列数据的覆盖分析，鉴定了一个 6kb 的拷贝数变异（CNV），位于 上游 152kb 处。数字液滴 PCR（ddPCR）的基因分型证实，NSDTR 中深色皮毛颜色与 拷贝数增加之间存在显著关联（ = 6.1×10）。CNV 的拷贝数也与基于真黑色素和真黑色素的贵宾犬（ = 1.5×10，4.0×10）以及其他品种的毛色变化显著相关。此外，该拷贝数与真黑色素和真黑色素皮毛中沿毛干的色素强度相关。在黑色素生成中起着重要作用，其上游的变异与小鼠的毛色变化以及人类的头发颜色有关，这与其在犬中的作用一致。
