Université de Lyon, VetAgro Sup, Marcy-l'Etoile, France.
Institut NeuroMyoGène INMG-PNMG, CNRS UMR5261, INSERM U1315, Faculté de Médecine, Rockefeller, Université Claude Bernard Lyon 1, Lyon, France.
Anim Genet. 2022 Oct;53(5):715-718. doi: 10.1111/age.13228. Epub 2022 Jun 15.
In the British feline breed a golden coat modification, called light-gold, akita or copper, was reported by breeders during the 2010s. This modification restricted eumelanin to the tip of the tail and hairs showed a wideband modification. Pedigree analyses revealed an autosomal recessive inheritance pattern. A single candidate region was identified using a genome-wide association study. Within that region, we identified CORIN (Corin, serine peptidase) as the strongest candidate gene, since two CORIN variants have previously been identified in Siberian cats with a golden phenotype. A homozygous CORIN:c.2425C>T nonsense variant was identified in copper British cats. Segregation of the variant was consistent with recessive inheritance. This nonsense CORIN:c.2425C>T variant, located in CORIN exon 19, was predicted to produce a truncated CORIN protein - CORIN:p.(Arg809Ter) - that would lack part of the scavenger receptor domain and the trypsine-like serine protease catalytic domain. All 30 copper cats were T/T homozygous for the variant, which was also found in 20 C/T heterozygous British control cats but was absent in 340 cats from the 99 Lives dataset. Finally, genotyping of 218 cats from 12 breeds failed to identify carriers in cats from other breeds. We propose that this third CORIN:c.2425C>T variant represents the wb (British recessive wideband) allele in the domestic cat.
在英国的短毛猫品种中,一种金色被毛修饰,称为淡金色、秋田色或古铜色,在 21 世纪 10 年代被饲养者报道。这种修饰将真黑素限制在尾巴的尖端,毛发呈现宽带修饰。系谱分析显示出常染色体隐性遗传模式。使用全基因组关联研究确定了一个单一位点候选区域。在该区域内,我们鉴定出 CORIN(丝氨酸蛋白酶 CORIN)是最强的候选基因,因为以前在具有金色表型的西伯利亚猫中已经鉴定出两个 CORIN 变体。在古铜色英国猫中鉴定出 CORIN:c.2425C>T 无义变体的纯合子。该变体的分离与隐性遗传一致。这种无义的 CORIN:c.2425C>T 变体位于 CORIN 外显子 19 中,预计会产生截断的 CORIN 蛋白 - CORIN:p.(Arg809Ter) - 该蛋白会缺失部分的清道夫受体结构域和胰蛋白酶样丝氨酸蛋白酶催化结构域。所有 30 只古铜色猫均为该变体的 T/T 纯合子,该变体也存在于 20 只 C/T 杂合的英国对照猫中,但在 340 只来自 99 Lives 数据集的猫中不存在。最后,在 12 个品种的 218 只猫中进行的基因分型未能在其他品种的猫中鉴定出携带者。我们提出,这种 CORIN:c.2425C>T 变体代表家猫中的 wb(英国隐性宽带)等位基因。