In the feline Donskoy breed, a phenotype that breeders call "pink‐eye," with associated light‐brown skin, yellow irises and red‐eye effect, has been described. Genealogical data indicated an autosomal recessive inheritance pattern. A single candidate region was identified by genome‐wide association study and SNP‐based homozygosity mapping. Within that region, we further identified HPS5 (HPS5 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2) as a strong candidate gene, since HPS5 variants have been identified in humans and animals with Hermansky–Pudlak syndrome 5 or oculocutaneous albinism. A homozygous c.2571‐1G>A acceptor splice‐site variant located in intron 16 of HPS5 was identified in pink‐eye cats. Segregation of the variant was 100% consistent with the inheritance pattern. Genotyping of 170 cats from 19 breeds failed to identify a single carrier in non‐Donskoy cats. The c.2571‐1G>A variant leads to HPS5 exon‐16 splicing that is predicted to produce a 52 amino acids in‐frame deletion in the protein. These results support an association of the pink‐eye phenotype with the c.2571‐1G>A variant. The pink‐eye Donskoy cat extends the panel of reported HPS5 variants and offers an opportunity for in‐depth exploration of the phenotypic consequences of a new HPS5 variant.

中文翻译：

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Donskoy 猫作为眼皮肤白化病的新模型，并在 Hermansky-Pudlak 综合征 5 基因中鉴定了剪接位点变异。

在 Donskoy 猫科动物中，已经描述了一种被饲养者称为“粉红色眼睛”的表型，具有相关的浅棕色皮肤、黄色虹膜和红眼效应。家谱数据表明常染色体隐性遗传模式。通过全基因组关联研究和基于 SNP 的纯合性作图确定了一个候选区域。在该区域内，我们进一步将HPS5（溶酶体细胞器复合体 2 亚基的 HPS5 生物发生）确定为一个强有力的候选基因，因为已经在患有 Hermansky-Pudlak 综合征 5 或眼皮肤白化病的人和动物中发现了HPS5变体。位于HPS5内含子 16 的纯合 c.2571-1G>A 受体剪接位点变体在红眼猫中被发现。变体的分离与遗传模式 100% 一致。对来自 19 个品种的 170 只猫的基因分型未能在非顿斯科伊猫中识别出单一携带者。c.2571-1G>A 变体导致HPS5外显子 16 剪接，预计会在蛋白质中产生 52 个氨基酸的框内缺失。这些结果支持红眼表型与 c.2571-1G>A 变体的关联。粉红眼 Donskoy 猫扩展了已报告的HPS5变体的面板，并为深入探索新的HPS5变体的表型后果提供了机会。