Cadieu Edouard, Neff Mark W, Quignon Pascale, Walsh Kari, Chase Kevin, Parker Heidi G, Vonholdt Bridgett M, Rhue Alison, Boyko Adam, Byers Alexandra, Wong Aaron, Mosher Dana S, Elkahloun Abdel G, Spady Tyrone C, André Catherine, Lark K Gordon, Cargill Michelle, Bustamante Carlos D, Wayne Robert K, Ostrander Elaine A
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Science. 2009 Oct 2;326(5949):150-3. doi: 10.1126/science.1177808. Epub 2009 Aug 27.
Coat color and type are essential characteristics of domestic dog breeds. Although the genetic basis of coat color has been well characterized, relatively little is known about the genes influencing coat growth pattern, length, and curl. We performed genome-wide association studies of more than 1000 dogs from 80 domestic breeds to identify genes associated with canine fur phenotypes. Taking advantage of both inter- and intrabreed variability, we identified distinct mutations in three genes, RSPO2, FGF5, and KRT71 (encoding R-spondin-2, fibroblast growth factor-5, and keratin-71, respectively), that together account for most coat phenotypes in purebred dogs in the United States. Thus, an array of varied and seemingly complex phenotypes can be reduced to the combinatorial effects of only a few genes.
毛色和毛型是家犬品种的重要特征。尽管毛色的遗传基础已得到充分表征，但对于影响毛发生长模式、长度和卷曲度的基因却知之甚少。我们对来自80个家犬品种的1000多只狗进行了全基因组关联研究，以确定与犬类毛发表型相关的基因。利用品种间和品种内的变异性，我们在三个基因RSPO2、FGF5和KRT71（分别编码R-spondin-2、成纤维细胞生长因子-5和角蛋白-71）中鉴定出不同的突变，这些突变共同构成了美国纯种狗的大多数毛发表型。因此，一系列多样且看似复杂的表型可以简化为仅少数几个基因的组合效应。
