Abstract：
Cats with a distinctive white hair pattern of unknown molecular cause have been discovered in the Finnish domestic cat population. Based on the unique appearance of these cats, we have named this phenotype salmiak (\"salty licorice\"). The use of a commercially available panel test to genotype four salmiak-colored cats revealed the absence of all known variants associated with white-haired phenotypic loci: full White (W), Spotting (Ws) and the Birman white Gloves associated (wg) allele of the KIT proto-oncogene (KIT) gene. Whole-genome sequencing on two salmiak-colored cats was conducted to search for candidate causal variants in the KIT gene. Despite a lack of coding variants, visual inspection of the short read alignments revealed a large ~95 kb deletion located ~65 kb downstream of the KIT gene in the salmiak cats. Additional PCR genotyping of 180 domestic cats and three salmiak-colored cats confirmed the homozygous derived variant genotype fully concordant with the salmiak phenotype. We suggest the newly identified variant be designated as wsal for \"w salmiak\".
摘要：
在芬兰家猫种群中发现了具有未知分子原因的独特白发模式的猫。基于这些猫的独特外观，我们将这种表型命名为salmiak（“咸甘草”）。使用可商购的小组测试来对四种salmiak色的猫进行基因分型，表明不存在与白毛表型基因座相关的所有已知变体：全白（W），KIT原癌基因（KIT）基因的斑点（Ws）和Birman白手套相关（wg）等位基因。对两只salmiak色的猫进行全基因组测序，以搜索KIT基因中的候选因果变体。尽管缺乏编码变体，对短读数比对的视觉检查显示，在salmiak猫的KIT基因下游约65kb处存在约95kb的大缺失。对180只家猫和三只salmiak色猫的其他PCR基因分型证实了纯合衍生的变异基因型与salmiak表型完全一致。我们建议将新鉴定的变体指定为“wsalmiak”的wsal。
