Mutations within the FGF5 gene are associated with hair length in cats

Abstract

Hereditary hair length variability in mice and dogs is caused by mutations within the fibroblast growth factor 5 (FGF5) gene. The aim of this study was to evaluate the feline FGF5 orthologue as a functional candidate gene for the long hair phenotype in cats, which is recessive to short hair. We amplified the feline FGF5 cDNA and characterised two alternatively spliced transcripts by RT-PCR. Comparative cDNA and genomic DNA sequencing of long- and short-haired cats revealed four non-synonymous polymorphisms in the FGF5 coding sequence. A missense mutation (AM412646:c.194C>A) was found in the homozygous state in 25 long-haired Somali, Persian, Maine Coon, Ragdoll and crossbred cats. Fifty-five short-haired cats had zero or one copy of this allele. Additionally, we found perfect co-segregation of the c.194C>A mutation within two independent pedigrees segregating for hair length. A second FGF5 exon 1 missense mutation (AM412646:c.182T>A) was found exclusively in long-haired Norwegian Forest cats. The c.182T>A mutation probably represents a second FGF5 mutation responsible for long hair in cats. In addition to the c.194C>A mutation, a frameshift mutation (AM412646:c.474delT) was found with a high frequency in the long-haired Maine Coon breed. Finally, a missense mutation (AM412646:c.475A>C) was also associated with the long-haired phenotype in some breeds. However, as one short-haired cat was homozygous for this polymorphism, it is unlikely that it has a functional role in the determination of hair length.

Cloning, molecular characterization, and expression pattern of FGF5 in Cashmere goat (Capra hircus)

“…Recent studies have indicated that all long-hair-associated mutations follow a recessive mode of inheritance, and allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs (Dierks et al, 2013). Similarly, mutations within the FGF5 gene are associated with hair length in cats (Drögemüller et al, 2007;Kehler et al, 2007). Using a combination of whole-exome sequencing and homozygosity mapping, Higgins et al (2014) identified distinct pathogenic mutations within the human FGF5 gene in several additional trichomegaly families.…”

Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys

“…Indeed, the angora mouse mutant carries a 2-kb loss-of-function deletion in Fgf5 and displays a delayed catagen onset and excessively long truncal hair [7]. Loss-of-function mutations associated with long-hair phenotypes have been described in several mammalian species including mice [4,8], dogs [9,10] and cats [11,12], which support a conserved role of FGF5 in the regulation of hair growth.…”

The Dermal Papilla: An Instructive Niche for Epithelial Stem and Progenitor Cells in Development and Regeneration of the Hair Follicle

“…The best defined regulator of anagen length is FGF-5. Mutation of Fgf-5 leads to a prolonged anagen phase in many species (Hebert et al 1994;Drogemuller et al 2007;Cadieu et al 2009). In the mouse, Fgf-5 is expressed in outer root sheath cells at the base of the follicle in late anagen, some of which abut the DP (Hebert et al 1994).…”