Allelic heterogeneity of FGF5 mutations causes the long‐hair phenotype in dogs. (6th February 2013)

• Record Type: Journal Article
• Authors: Dierks, C.; Mömke, S.; Philipp, U.; Distl, O.
• Is Part Of: Animal genetics. Volume 44:Number 4(2013:Aug.)
• Page Start: 425
• Page End: 431
• Publication Date: 2013-02-06
• Subjects: Animal genetics -- Periodicals; 572.8
• DOI: 10.1111/age.12010
• Languages: English
• ISSNs: 0268-9146

Abstract

<abstract abstract-type="main" id="age12010-abs-0001"> <title>Summary</title> <p>Hitherto, the only known mutant gene leading to the long‐hair phenotype in mammals is the <italic>fibroblast growth factor 5</italic> (<italic>FGF5</italic>). In many dog breeds, the previously discovered <italic>FGF5</italic>: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 <italic>FGF5</italic>:p.Cys95Phe and <italic>FGF5</italic>: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 <italic>FGF5</italic> were re‐sequenced. We detected three novel mutations in the coding sequence and one novel non‐coding splice‐site mutation in <italic>FGF5</italic> associated with the long‐hair phenotype. The <italic>FGF5</italic>: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 <italic>FGF5</italic>:p.Ala193Val or the <italic>FGF5</italic>:p.Cys95Phe polymorphisms respectively. The two newly detected polymorphisms <italic>FGF5</italic>:c.559_560dupGG and <italic>FGF5</italic>:g.8193T>A and the known mutation <italic>FGF5</italic>:p.Cys95Phe explained the long‐hair phenotype of all Afghan hounds analysed. An <italic>FGF5</italic>: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.</p> </abstract>