Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs
Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs
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DOI：
10.1111/age.12010
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发表时间：
2013-08-01
期刊：
影响因子：
2.4
通讯作者：
Distl, O.
中科院分区：
文献类型：
--
作者：
Dierks, C.;Moemke, S.;Distl, O.
在哺乳动物中，唯一已知的导致长毛表型的突变基因是成纤维细胞生长因子5（FGF5）。在许多犬种中，先前发现的FGF5：p.Cys95Phe突变似乎与长毛表型完全一致，但对于某些犬种，长毛表型无法解决。首先，我们研究了FGF5：p.Cys95Phe和FGF5：g.145_150dupACCAGC突变在来自27个品种和7只狼的268只狗中的作用。由于这些突变不能解释所有的长毛表型，因此对FGF 5的所有外显子及其相邻区域进行了重新测序。我们检测到三个新的突变的编码序列和一个新的非编码剪接位点突变的FGF5与长发表型。FGF5：p.Ala193Val多态性与秋田犬的长毛完全一致，可能也与西伯利亚哈士奇的长毛完全一致。长毛品种萨摩耶犬的FGF5：p.Ala193Val或FGF5：p.Cys95Phe多态性分别为纯合子或复合杂合子。两个新发现的多态性FGF5：c.559_560dupGG和FGF5：g.8193T>A和已知的突变FGF5：p.Cys95Phe解释了所有阿富汗猎犬的长毛表型分析。FGF5：c.556_571del16突变在一个长毛欧亚犬中发现。所有与长毛相关的突变都遵循隐性遗传模式，等位基因异质性在秋田以外的品种中很常见。
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.