Salmela E, Niskanen J, Arumilli M, Donner J, Lohi H, Hytönen M K
Department of Veterinary Biosciences, University of Helsinki, P.O. Box 66, 00014, Helsinki, Finland.
Research Programs Unit, Molecular Neurology, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.
Anim Genet. 2019 Feb;50(1):101-104. doi: 10.1111/age.12746. Epub 2018 Nov 19.
Curly fur is a common phenotype in many dog breeds, known to result from a missense variant (c.451C>T) in exon 2 of the keratin 71 (KRT71) gene. During screening for this variant across various breeds, we found that Curly Coated Retrievers (CCRs) fixed with the trait did not carry the known variant. By analysis of whole-genome sequencing data of one CCR we identified a novel genetic cause for curly fur. We found a novel structural variant in exon 7 of the KRT71 gene (c.1266_1273delinsACA) that was predicted to result in a frameshift and stop loss, therefore significantly affecting the structure of the protein, if translated. The variant was also found at lower frequencies in five other breeds, including Lagotto Romagnolo, Bichon Frise, Spanish Water Dog, Chesapeake Bay Retriever and Irish Terrier. One curly-coated Lagotto carried neither of the two KRT71 variants. These results identify a second variant for curly coat in KRT71 and suggest the existence of additional alleles. This study enables the development of an additional KRT71 gene test for breeders to understand and manage coat types.
卷毛是许多犬种的常见表型，已知是由角蛋白71（KRT71）基因外显子2中的一个错义变体（c.451C>T）导致的。在对各种犬种进行该变体筛查时，我们发现具有该性状的卷毛寻回犬（CCR）并不携带已知变体。通过对一只CCR的全基因组测序数据进行分析，我们确定了卷毛的一个新的遗传原因。我们在KRT71基因外显子7中发现了一个新的结构变体（c.1266_1273delinsACA），预计该变体将导致移码和终止密码子丢失，因此如果翻译的话，会显著影响蛋白质的结构。在其他五个犬种中也发现了该变体的低频存在，包括罗威纳拉戈托犬、比熊犬、西班牙水犬、切萨皮克湾寻回犬和爱尔兰梗犬。一只卷毛的拉戈托犬既不携带这两种KRT71变体中的任何一种。这些结果确定了KRT71基因中卷毛的第二个变体，并表明存在其他等位基因。这项研究使得能够为育种者开发额外的KRT71基因检测，以了解和管理毛发类型。
