title: Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs.
abstract: Hitherto, the only known mutant gene leading to the long-hair phenotype in mammals is the fibroblast growth factor 5 (FGF5). In many dog breeds, the previously discovered FGF5:p.Cys95Phe mutation appeared completely concordant with the long-hair phenotype, but for some breeds, the long-hair phenotype could not be resolved. First, we studied the role of the FGF5:p.Cys95Phe and FGF5:g.145_150dupACCAGC mutations in 268 dogs descending from 27 breeds and seven wolves. As these mutations did not explain all the long-hair phenotypes, all exons and their neighbouring regions of FGF5 were re-sequenced. We detected three novel mutations in the coding sequence and one novel non-coding splice-site mutation in FGF5 associated with the long-hair phenotype. The FGF5:p.Ala193Val polymorphism was perfectly consistent with long hair in Akitas and probably in Siberian huskies, too. Dogs of the long-hair breed Samoyed were either homozygous or compound heterozygous for the FGF5:p.Ala193Val or the FGF5:p.Cys95Phe polymorphisms respectively. The two newly detected polymorphisms FGF5:c.559_560dupGG and FGF5:g.8193T>A and the known mutation FGF5:p.Cys95Phe explained the long-hair phenotype of all Afghan hounds analysed. An FGF5:c.556_571del16 mutation was found in one longhaired Eurasier. All long-hair-associated mutations follow a recessive mode of inheritance, and allelic heterogeneity was a common finding in breeds other than Akita.
authors: Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany. cldierks@tiho-hannover.de
authors: C
authors: C
authors: Dierks
authors: S
authors: S
authors: Mömke
authors: U
authors: U
authors: Philipp
authors: O
authors: O
authors: Distl
mesh_terms: D000818:Animals; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004285:Dogs / Q000235:genetics* / Q000254:growth & development; D051521:Fibroblast Growth Factor 5 / Q000235:genetics*; D005787:Gene Frequency; D018740:Genetic Heterogeneity; D006197:Hair / Q000254:growth & development*; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000662:veterinary; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA / Q000662:veterinary; D013045:Species Specificity
chemical_list: D018076:DNA, Complementary; D051521:Fibroblast Growth Factor 5
keywords: ancient dog breeds; coat variation; fibroblast growth factor 5