A new Finnish flavor of feline coat coloration, “salmiak,” is associated with a 95-kb deletion downstream of the KIT gene

IF 16.4 1区 化学 Q1 CHEMISTRY, MULTIDISCIPLINARY
Heidi Anderson, Milla Salonen, Sari Toivola, Matthew Blades, Leslie A. Lyons, Oliver P. Forman, Marjo K. Hytönen, Hannes Lohi
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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”.

Abstract Image

芬兰一种新的猫科动物毛色 "salmiak "与 KIT 基因下游 95-kb 的缺失有关。
在芬兰家猫中发现了一种具有独特白毛花纹的猫,其分子原因不明。根据这些猫的独特外观,我们将这种表型命名为 salmiak("咸甘草")。通过使用市售的基因组测试对四只 "咸味甘草 "色猫进行基因分型,发现它们不存在与白毛表型基因座相关的所有已知变体:全白(W)、斑点(Ws)和与伯曼白手套相关的 KIT 原癌基因(KIT)等位基因(wg)。对两只鲑色猫进行了全基因组测序,以寻找 KIT 基因中的候选致病变体。尽管缺乏编码变异,但通过目测短读数比对发现,在鲑色猫的 KIT 基因下游约 65 kb 处存在一个约 95 kb 的大缺失。对 180 只家猫和 3 只鲑鱼色猫进行的额外 PCR 基因分型证实,同卵衍生变体基因型与鲑鱼表型完全一致。我们建议将新发现的变体命名为 wsal,表示 "w salmiak"。
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来源期刊
Accounts of Chemical Research
Accounts of Chemical Research 化学-化学综合
CiteScore
31.40
自引率
1.10%
发文量
312
审稿时长
2 months
期刊介绍: Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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