Mutations in lipase H (LIPH ) and lysophosphatidic acid receptor 6 (LPAR6 ), which are essential for the lysophosphatidic acid (LPA) signalling pathway, are associated with hypotrichosis and wooly hair in humans. Mutations in LPAR6 and keratin 71 (KRT71 ), result in unusual fur growth and hair structure in several cat breeds (Cornish Rex, Devon Rex and Selkirk Rex). Here, we performed target sequencing of the LIPH , LPAR6 and KRT71 genes in six cat breeds with specific hair‐growth phenotypes. A LIPH genetic variant (LIPH :c.478_483del; LIPH:p.Ser160_Gly161del) was found in Ural Rex cats with curly coats from Russia, but was absent in all other cat breeds tested. In silico three‐dimensional analysis of the LIPH mutant protein revealed a contraction of the α 3‐helix structure in the enzyme phospholipid binding site that may affect its activity.

中文翻译：

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乌拉尔雷克斯猫科动物的卷毛表型与脂肪酶H基因的突变有关。

脂肪酶H（LIPH）和溶血磷脂酸受体6（LPAR6）的突变是溶血磷脂酸（LPA）信号通路必不可少的，与人类的毛发不足和毛发相关。LPAR6和角蛋白71（KRT71）中的突变导致几种猫科动物（康沃尔雷克斯，德文郡雷克斯和塞尔柯克雷克斯）的皮毛生长和毛发结构异常。在这里，我们对六个具有特定毛发生长表型的猫品种的LIPH，LPAR6和KRT71基因进行了目标测序。甲LIPH基因变体（LIPH：c.478_483del; LIPH：p.Ser160_Gly161del）是在乌拉尔雷克斯（Ural Rex）穿着俄罗斯卷毛大衣的猫中发现的，但在所有其他测试的猫品种中都没有。在计算机芯片上的LIPH的三维分析突变蛋白揭示的收缩α在酶3螺旋结构的磷脂结合位点可能影响其活性。