Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat

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Abstract Hair length can be a highly variable trait within the Felis catus species, varying between and within different cat breeds. Previous research has demonstrated this variability is due to recessive mutations within the fibroblast growth factor 5 (FGF5) gene. Following a clinical genetic screen, four long-haired Maine Coons were identified that had only one copy of a known FGF5 mutation. We performed DNA sequencing on two of the Maine Coons and identified a missense mutation in FGF5 c.G>A625 p.A193T (Mutation 5, M5). Genetic screening via restriction digest was then performed on an additional 275 cats of various breeds, revealing two more Maine Coons heterozygous for M5 and a previously known mutation. No additional cases were identified after in silico analysis of 68 whole genome cat sequences from various breeds, demonstrating that this novel mutation is most likely a breed-specific variant for the Maine Coon, contributing to the longhair phenotype in about 3% of cats.

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