The curly coat phenotype of the Ural Rex feline breed is associated with a mutation in the lipase H gene

Abstract

SummaryMutations 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.

Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza

“…Similar findings were reported in curly coated horses, whose dominant curly hair phenotype was associated with either KRT25-or SP6-variant or both 32 . Moreover, in cats, different breed-specific variants have been identified to be causative for curly hair 29,40,69 .…”

“…The genetic background of the determination patterns for the hair shape, in particular curly hair, has been studied widely in domestic animals like mice, rabbits, cats, dogs, cattle and horses [27][28][29][30][31][32] , but has not been determined in Mangalitza pig or other pig breeds so far. It is well known that keratin (KRT) and keratin-associated-protein (KRTAP) genes, as main structural components of hair fiber 33 are frequently affected by variants associated with curly or woolly hair among humans and mammals 27,[30][31][32][34][35][36][37][38] .…”

“…It is well known that keratin (KRT) and keratin-associated-protein (KRTAP) genes, as main structural components of hair fiber 33 are frequently affected by variants associated with curly or woolly hair among humans and mammals 27,[30][31][32][34][35][36][37][38] . Further genes harboring variants for curly hair are lipase H gene (LIPH), lysophosphatidic acid receptor 6 gene (LPAR6), transcription factor (SP6) and serum-and glucocorticoid-regulated kinase gene (Sgk3) 28,29,32,[39][40][41] . Furthermore, an influence on hair curvature and follicle formation was suggested to be derived from epidermal growth factor receptor (EGFR) and fibroblast growth factor (FGF)-related pathways as well as WNT/ß-catenin-signaling pathway 42,43 .…”

Patterns of allele frequency differences among domestic cat breeds assessed by a 63K SNP array

“…Although several genes responsible for the curly coat in cat breeds have been identified [32,33,35,46], the genetic variant responsible for the curled coat of LaPerm is still unknown. We have identified 3.75 Mb candidate region in LaPerm with likely involvement of EPGN and EGER to the unique curly coat of the breed [73].…”

“…Cat coat color phenotypes are products of genetic variation within KIT (white and white spotting) [19][20][21], TYR (points pattern, mocha, albino) [22][23][24], ASIP (black, agouti) [25], MC1R (amber and russet) [26,27], TYRP1 (brown, cinnamon and chocolate) [28], and MLPH (dilute coloration) [29]. Similarly, coat length and texture arose from polymorphisms within FGF5 (longhair) [30,31], KRT71 (curly and naked) [32,33], and LPAR6 and LIPH (curly) [34,35]. On the other hand, body morphology variations that were selected in various breeds include the face (Burmese-ALX1) [36,37], ears (Scottish Fold folded ears-TRPV4) [38], size (dwarfism-UGDH) [39], and tail (Japanese Bobtail tail length and kink-HES7, Manx tail length and tailless-T gene) [40][41][42].…”