PDF(Pubmed)
Abstract：
During the last twenty years, minimal white spotting associated with blue eyes was selected by feline breeders to create the Altai, Topaz, and Celestial breeds. Additionally, certain breeders introduced this trait in their lineages of purebred cats. The trait has been called \"dominant blue eyes (DBE)\" and was confirmed to be autosomal dominant in all lineages. DBE was initially described in outbred cats from Kazakhstan and Russia and in two purebred lineages of British cats from Russia, as well as in Dutch Maine Coon cats, suggesting different founding effects. We have previously identified two variants in the Paired Box 3 (PAX3) gene associated with DBE in Maine Coon and Celestial cats; however, the presence of an underlying variant remains undetermined in other DBE breeding lines. Using a genome-wide association study, we identified a single region on chromosome C1 that was associated with DBE in British cats. Within that region, we identified PAX3 as the strongest candidate gene. Whole-genome sequencing of a DBE cat revealed an RD-114 retrovirus LTR (long terminal repeat) insertion within PAX3 intron 4 (namely NC_018730.3:g.206975776_206975777insN[433]) known to contain regulatory sequences. Using a panel of 117 DBE cats, we showed that this variant was fully associated with DBE in two British lineages, in Altai cats, and in some other DBE lineages. We propose that this NC_018730.3:g.206975776_206975777insN[433] variant represents the DBEALT (Altai Dominant Blue Eye) allele in the domestic cat. Finally, we genotyped DBE cats from 14 lineages for the three PAX3 variants and showed that they were not present in four lineages, confirming genetic heterogeneity of the DBE trait in the domestic cat.
摘要：
在过去的二十年里，猫科动物选择与蓝眼睛相关的最小白色斑点来创建阿尔泰，黄玉,和天体品种。此外,某些育种者在纯种猫的谱系中引入了这种特征。该特征被称为“显性蓝眼睛（DBE）”，并被证实在所有谱系中都是常染色体显性遗传。DBE最初是在来自哈萨克斯坦和俄罗斯的近交猫以及来自俄罗斯的英国猫的两个纯种血统中描述的，以及在荷兰缅因州的Coon猫，暗示不同的创始效应。我们以前在缅因州Coon和天猫中发现了与DBE相关的配对Box3（PAX3）基因中的两个变体；但是，潜在变体的存在在其他DBE育种品系中仍未确定。使用全基因组关联研究，我们在英国猫的C1染色体上发现了一个与DBE相关的区域。在该区域内,我们确定PAX3是最强的候选基因。DBE猫的全基因组测序显示，在PAX3内含子4（即NC_018730.3：g.206975776_2069757777insN[433]）内插入了RD-114逆转录病毒LTR（长末端重复序列），已知含有调节序列。使用117只DBE猫的面板，我们发现在英国的两个血统中，这种变异与DBE完全相关，在阿尔泰猫，以及其他一些DBE谱系。我们建议此NC_018730.3：g.206975776_206975777insN[433]变体代表家猫中的DBEALT（阿尔泰优势蓝眼）等位基因。最后,我们对来自14个谱系的3个PAX3变体的DBE猫进行基因分型，并显示它们不存在于4个谱系中，证实了家猫DBE性状的遗传异质性。
