Golden cats have been appreciated since the beginning of the cat fancy. Golden is a modification of the tabby coat. In the Siberian breed, a specific golden phenotype, named sunshine, has been described. Sunshine tabby cats exhibit a warm tone of tabby, a pink nose lacking the black lining and a large light cream area around the nose. Pedigree analyses revealed an autosomal recessive inheritance pattern. A single candidate region was identified by genome-wide association study (GWAS) and homozygosity mapping. Within that region, we identified CORIN (Corin, serine peptidase) as a strong candidate gene, since CORIN variants have been identified in mice and tigers with a golden phenotype and CORIN has been described as a modifier of the ASIP (Agouti Signaling Protein) pathway. A homozygous CORIN:c.2383C>T missense variant was identified in sunshine tabby cats. Segregation of the variant was consistent with recessive inheritance. The variant was also found in three Kurilian bobtail cats and in two ToyBob cats from the 99 Lives dataset but genotyping of 106 cats from 13 breeds failed to identify carriers in cats from other breeds. The CORIN:c.2383C>T variant was predicted to change an arginine to a cysteine at position 795 in the protein: CORIN:p.(Arg795Cys). Finally, hair observation in Siberian cats was consistent with elongated ASIP signaling as golden hair showed a large yellow band instead of the short subapical one usually observed in agouti hair. These results support an association of the Siberian sunshine modification with the CORIN:c.2383C>T variant. The Siberian cat has helped us to decipher one of the golden phenotypes observed in cats and we propose that the CORIN:c.2383C>T variant represents the wb^SIB (Siberian recessive wideband) allele in the domestic cat.

中文翻译：

---

西伯利亚猫帮助解开围绕金猫的部分谜团

金猫从猫看中开始就备受推崇。金色是虎斑大衣的改良版。在西伯利亚品种中，已经描述了一种名为阳光的特定金色表型。阳光虎斑猫表现出温暖的虎斑色调，粉红色的鼻子没有黑色衬里，鼻子周围有一个大的浅奶油色区域。谱系分析揭示了常染色体隐性遗传模式。通过全基因组关联研究 (GWAS) 和纯合子作图确定了一个候选区域。在该区域内，我们将CORIN（Corin，丝氨酸肽酶）鉴定为强候选基因，因为CORIN已在具有金色表型的小鼠和老虎中鉴定出变异，并且 CORIN 已被描述为 ASIP（Agouti 信号蛋白）途径的修饰符。在阳光虎斑猫中发现了一个纯合的 CORIN:c.2383C>T 错义变体。变异的分离与隐性遗传一致。该变异也在 99 Lives 数据集中的三只 Kurilian 短尾猫和两只 ToyBob 猫中发现，但对 13 个品种的 106 只猫的基因分型未能识别其他品种猫的携带者。预测 CORIN:c.2383C>T 变体将蛋白质中第 795 位的精氨酸变为半胱氨酸：CORIN:p.(Arg795Cys)。最后，西伯利亚猫的毛发观察与拉长的 ASIP 信号一致，因为金毛显示一条大的黄色带，而不是通常在刺豚鼠毛发中观察到的短尖下带。这些结果支持西伯利亚日照修正与 CORIN:c.2383C>T 变体的关联。西伯利亚猫帮助我们破译了在猫中观察到的一种金色表型，我们建议 CORIN:c.2383C>T 变体代表家猫中的wb ^SIB（西伯利亚隐性宽带）等位基因。