Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, 1114 Tupper Hall, Davis, CA 95616, USA.
Mamm Genome. 2010 Oct;21(9-10):509-15. doi: 10.1007/s00335-010-9290-6. Epub 2010 Oct 16.
Hair is a unique structure, characteristic of mammals, controlling body homeostasis, as well as cell and tissue integration. Previous studies in dog, mouse, and rat have identified polymorphisms in Keratin 71 (KRT71) as responsible for the curly/wavy phenotypes. The coding sequence and the 3' UTR of KRT71 were directly sequenced in randomly bred and pedigreed domestic cats with different pelage mutations, including hairless varieties. A SNP altering a splice site was identified in the Sphynx breed and suggested to be the hairless (hr) allele, and a complex sequence alteration, also causing a splice variation, was identified in the Devon Rex breed and suggested to be the curly (re) allele. The polymorphisms were genotyped in approximately 200 cats. All the Devon Rex were homozygous for the complex alterations and most of the Sphynx were either homozygous for the hr allele or compound heterozygotes with the Devon-associated re allele, suggesting that the phenotypes are a result of the identified SNPs. Two Sphynx carrying the proposed hr mutation did not carry the Devon-associated alteration. No other causative mutations for eight different rexoid and hairless cat phenotypes were identified. The allelic series KRT71( + ) > KRT71( hr ) > KRT71( re ) is suggested.
毛发是哺乳动物特有的一种结构，它可以控制身体的动态平衡，以及细胞和组织的整合。之前在狗、老鼠和老鼠身上的研究已经确定了角蛋白 71（KRT71）的多态性是导致毛发卷曲/波浪状表型的原因。本研究在具有不同皮毛突变的随机繁殖和 pedigreed 家猫中直接对 KRT71 的编码序列和 3'UTR 进行测序，包括无毛品种。在斯芬克斯品种中发现了一个改变剪接位点的 SNP，并认为它是无毛（hr）等位基因，而在德文雷克斯品种中发现了一个复杂的序列改变，也导致了剪接变异，被认为是卷曲（re）等位基因。在大约 200 只猫中对这些多态性进行了基因分型。所有的德文雷克斯猫都是复杂改变的纯合子，大多数斯芬克斯猫要么是 hr 等位基因的纯合子，要么是与德文雷克斯相关的 re 等位基因的复合杂合子，这表明这些表型是由鉴定出的 SNP 引起的。两只携带拟议的 hr 突变的斯芬克斯猫并不携带德文雷克斯相关的改变。没有发现其他 8 种不同雷克斯和无毛猫表型的致病突变。建议 KRT71（+）>KRT71（hr）>KRT71（re）的等位基因系列。
