The curly coat phenotype of the Ural Rex feline breed is associated with a mutation in the lipase H gene |
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| Authors: | A D Manakhov T V Andreeva E I Rogaev |
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| Institution: | 1. Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Gubkina str., 3, Moscow, 119333 Russia;2. Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Gubkina str., 3, Moscow, 119333 Russia
Centre for Genetics and Genetic Technologies, Faculty of Biology, Lomonosov Moscow State University, Lomonosovsky prospekt, 27-1, Moscow, 119192 Russia |
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| Abstract: | 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 α3-helix structure in the enzyme phospholipid binding site that may affect its activity. |
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| Keywords: | cat hair coat LIPH lysophosphatidic acid rex phenotype |
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