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The curly coat phenotype of the Ural Rex feline breed is associated with a mutation in the lipase H gene
Author(s) -
Manakhov A. D.,
Andreeva T. V.,
Rogaev E. I.
Publication year - 2020
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/age.12958
Subject(s) - biology , coat , breed , phenotype , gene , genetics , lipase , mutation , enzyme , biochemistry , paleontology
Summary 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.