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 genetic screen, four longhaired Maine Coons were identified that had only one copy of a known FGF5 mutation. We performed DNA sequencing on samples from two of these Maine Coons and identified a missense mutation in FGF5 c.577G > A p.Ala193Thr. Genetic screening via restriction digest was then performed on samples from the other two Maine Coons and an additional 273 cats of various breeds. This screening found that only the two additional Maine Coons were heterozygous for the novel variant. Furthermore, the novel variant was not 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 these cats.
Highlights
The fibroblast growth factor 5 (FGF5) protein encoded by the FGF5 gene mediates the mammalian hair follicle cycles through the periods of growth, involution, and rest, resulting in various hair lengths between and among species due to variants within the FGF5 gene (Housley and Venta, 2006)
Four variants have been identified: Mutation 1 (M1), is an insertion of a thymine base found in the Ragdoll breed; Mutation 2 (M2), is a cytosine to thymine conversion found in the Norwegian Forest Cat breed; Mutation 3 (M3), is a deletion of a thymine base found in Ragdoll and Maine Coon breeds; and Mutation 4 (M4), is an adenine to cytosine conversion found in most longhair cat breeds (Drögemüller et al 2007, Kehler et al 2007)
We used samples from two Maine coon cats heterozygous for one known mutation and a control cat that is a compound heterozygote for M3 and M4 to search for additional variants within the FGF5 gene
Summary
The fibroblast growth factor 5 (FGF5) protein encoded by the FGF5 gene mediates the mammalian hair follicle cycles through the periods of growth, involution, and rest, resulting in various hair lengths between and among species due to variants within the FGF5 gene (Housley and Venta, 2006). Demonstrated in both dogs (Dierks et al 2013) and cats (Drögemüller et al 2007; Kehler et al 2007), longhair is recessive to shorthair and requires homozygosity or compound heterozygosity of variants in FGF5. Sequencing of FGF5 in two of these identified Maine Coons, with additional screening in 144 Maine coon cats and confirmation in relatives, led to the identification of a fifth, novel variant associated with longhair in the Maine coon
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