Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA, USA.
Sci Rep. 2013;3:2000. doi: 10.1038/srep02000.
One of the salient features of the domestic cat is the aesthetics of its fur. The Selkirk Rex breed is defined by an autosomal dominant woolly rexoid hair (ADWH) abnormality that is characterized by tightly curled hair shafts. A genome-wide case - control association study was conducted using 9 curly coated Selkirk Rex and 29 controls, including straight-coated Selkirk Rex, British Shorthair and Persian, to localize the Selkirk autosomal dominant rexoid locus (SADRE). Although the control cats were from different breed lineages, they share recent breeding histories and were validated as controls by Bayesian clustering, multi-dimensional scaling and genomic inflation. A significant association was found on cat chromosome B4 (Praw = 2.87 × 10(-11)), and a unique haplotype spanning ~600 Kb was found in all the curly coated cats. Direct sequencing of four candidate genes revealed a splice site variant within the KRT71 gene associated with the hair abnormality in Selkirk Rex.
家猫的一个显著特征是其皮毛的美感。塞尔凯克卷毛猫品种的特征是一种常染色体显性羊毛状雷克斯毛（ADWH）异常，其特征是毛发紧密卷曲。使用 9 只卷曲被毛的塞尔凯克卷毛猫和 29 只对照猫（包括直毛的塞尔凯克卷毛猫、英国短毛猫和波斯猫）进行了全基因组病例对照关联研究，以定位塞尔凯克常染色体显性雷克斯基因座（SADRE）。尽管对照猫来自不同的品种谱系，但它们具有近期的繁殖历史，并通过贝叶斯聚类、多维标度和基因组膨胀验证为对照。在猫染色体 B4 上发现了显著的关联（Praw = 2.87 × 10(-11)），并且在所有卷曲的猫中都发现了一个跨越约 600 Kb 的独特单倍型。对四个候选基因的直接测序显示，KRT71 基因内的剪接位点变异与塞尔凯克卷毛猫的毛发异常有关。
