Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus)
Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus)
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DOI：
10.1111/j.1365-2052.2005.01253.x
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发表时间：
2005-04-01
期刊：
影响因子：
2.4
通讯作者：
Grahn, RA
中科院分区：
文献类型：
--
作者：
Lyons, LA;Imes, DL;Grahn, RA
暹罗猫有一个高度认可的毛色表型，在身体的四肢，如耳朵，尾巴和爪子表达色素。这种对温度敏感的着色导致面部出现“面具”，这种表型通常被称为“尖”。缅甸人是一种等位基因变体，对温度不太敏感，比暹罗人在整个躯干产生更多的色素。酪氨酸酶（TYR）突变已被怀疑导致这些表型，因为在TYR突变与其他物种的类似表型。在猫的连锁和同线性映射间接支持TYR作为这些猫表型的致病基因。本文描述了与暹罗和缅甸表型相关的TYR突变。分析了200多只猫，代表12个品种以及随机繁殖的猫。与暹罗表型相关的SNP是外显子2 G > A转换，将甘氨酸变为精氨酸（G302R）。与缅甸人表型相关的SNP是外显子1G> T颠换，将甘氨酸变为色氨酸（G227W）。G302R突变分离一致的喜马拉雅（尖）波斯人的系谱内。所有的猫，有“指出”或缅甸毛色表型是纯合子相应的突变，分别表明这些表型是一个结果，已确定的突变或未确定的突变是在连锁不平衡。由于在具有相似表型的不同品种中鉴定出相同的突变，因此突变可能通过血统而相同，而不是在同一位点发生多个突变事件。
The Siamese cat has a highly recognized coat colour phenotype that expresses pigment at the extremities of the body, such as the ears, tail and paws. This temperature-sensitive colouration causes a 'mask' on the face and the phenotype is commonly referred to as 'pointed'. Burmese is an allelic variant that is less temperature-sensitive, producing more pigment throughout the torso than Siamese. Tyrosinase (TYR) mutations have been suspected to cause these phenotypes because mutations in TYR are associated with similar phenotypes in other species. Linkage and synteny mapping in the cat has indirectly supported TYR as the causative gene for these feline phenotypes. TYR mutations associated with Siamese and Burmese phenotypes are described herein. Over 200 cats were analysed, representing 12 breeds as well as randomly bred cats. The SNP associated with the Siamese phenotype is an exon 2 G > A transition changing glycine to arginine (G302R). The SNP associated with the Burmese phenotype is an exon 1 G > T transversion changing glycine to tryptophan (G227W). The G302R mutation segregated concordantly within a pedigree of Himalayan (pointed) Persians. All cats that had 'pointed' or the Burmese coat colour phenotype were homozygous for the corresponding mutations, respectively, suggesting that these phenotypes are a result of the identified mutations or unidentified mutations that are in linkage disequilibrium. Because the same mutations were identified in different breeds with similar phenotypes, the mutations are likely to be identical by descent rather than multiple mutation events occurring at the same site.