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

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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.
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Keywords: FGF5; cat; fibroblast growth factor 5; hair length; missense mutation

Document Type: Research Article

Affiliations: 1: Institute of Genetics, Vetsuisse Faculty, University of Berne, Berne, Switzerland 2: Department of Clinical Veterinary Medicine, Vetsuisse Faculty, University of Berne, Berne, Switzerland 3: Institute of Animal Nutrition, Vetsuisse Faculty, University of Zürich, Zürich, Switzerland

Publication date: June 1, 2007

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