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Allelic heterogeneity of FGF 5 mutations causes the long‐hair phenotype in dogs
Author(s) -
Dierks C.,
Mömke S.,
Philipp U.,
Distl O.
Publication year - 2013
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/age.12010
Subject(s) - biology , genetics , phenotype , exon , mutation , allele , coding region , gene
Summary Hitherto, the only known mutant gene leading to the long‐hair phenotype in mammals is the fibroblast growth factor 5 ( FGF 5 ). In many dog breeds, the previously discovered FGF 5 :p. C ys95 P he 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 FGF 5 :p. C ys95 P he and FGF 5 :g.145_150dup ACCAGC 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 FGF 5 were re‐sequenced. We detected three novel mutations in the coding sequence and one novel non‐coding splice‐site mutation in FGF 5 associated with the long‐hair phenotype. The FGF 5 :p. A la193 V al polymorphism was perfectly consistent with long hair in A kitas and probably in Siberian huskies, too. Dogs of the long‐hair breed Samoyed were either homozygous or compound heterozygous for the FGF 5 :p. A la193 V al or the FGF 5 :p. C ys95 P he polymorphisms respectively. The two newly detected polymorphisms FGF 5 :c.559_560dup GG and FGF 5 :g.8193 T > A and the known mutation FGF 5 :p. C ys95 P he explained the long‐hair phenotype of all A fghan hounds analysed. An FGF 5 :c.556_571del16 mutation was found in one longhaired E urasier. All long‐hair‐associated mutations follow a recessive mode of inheritance, and allelic heterogeneity was a common finding in breeds other than A kita.