Human Genetics, Ruhr-University, Bochum, Germany.
J Anim Breed Genet. 2011 Apr;128(2):153-60. doi: 10.1111/j.1439-0388.2010.00888.x. Epub 2010 Sep 22.
Weimaraner dogs are defined by light brown coat colour termed grey including several shadings ranging from silver and deer to mouse grey. In contrast, the so-called blue Weimaraners (BW) with lightened black-pigmented coat have been proposed to represent spontaneous revertants in the Weimaraner breed. In order to investigate the genetic determinants of the characteristic grey coat colour versus those of BW, known variation in coat colour genes including TYRP1 and MLPH were analysed in a number of grey and blue dogs. Variations at the B locus cause grey coat colour in Weimaraners via two non-functional TYRP1 copies (bb) including the b(s), b(d) and b(c) alleles. In all BW, at least one functional TYRP1 allele (Bb or BB genotype) was identified. Defined microsatellite alleles in TYRP1 intron 4 are linked to this functional B allele in BW. These alleles were also detected in various other dog breeds, but not in grey Weimaraners. The combination of a dominant trait for blue versus grey together with a specific TYRP1 haplotype in BW suggests that blue coat colour is not the result of spontaneous (back-) mutation in grey Weimaraners. This inference is even emphasized by the presence of a unique Y-chomosomal haplotype in a male offspring of the supposed ancestor of the BW population which - according to pedigree information - carries a copy of the original Y chromosome. Thus, molecular genetic analyses of coat colours combined with Y-chromosomal haplotypes allow tracing the origin of atypical dogs in respective canine populations.
威玛猎犬的毛色定义为浅棕色,称为灰色,包括从银色到鹿色再到鼠灰色的几种色调。相比之下,所谓的蓝色威玛犬(BW)的毛色则呈现浅色的黑化,被认为是威玛犬品种中的自发回复突变体。为了研究特征灰色毛色与 BW 毛色的遗传决定因素,对一些灰色和蓝色犬中的毛色基因 TYRP1 和 MLPH 的已知变异进行了分析。B 基因座的变异通过两个无功能的 TYRP1 副本(bb)导致威玛猎犬的灰色毛色,包括 b(s)、b(d)和 b(c)等位基因。在所有 BW 中,至少鉴定出一个有功能的 TYRP1 等位基因(Bb 或 BB 基因型)。在 BW 中,TYRP1 内含子 4 中的定义微卫星等位基因与这个有功能的 B 等位基因相关联。这些等位基因也在其他各种犬种中检测到,但在灰色威玛犬中没有检测到。蓝色与灰色相比具有显性性状,再加上 BW 中的特定 TYRP1 单倍型,表明蓝色毛色不是灰色威玛犬自发(回溯)突变的结果。这种推断甚至通过 BW 群体假定祖先的雄性后代中存在独特的 Y 染色体单倍型而得到强调,根据谱系信息,该雄性后代携带原始 Y 染色体的一份副本。因此,毛色的分子遗传学分析结合 Y 染色体单倍型可以追溯特定犬种中异常犬只的起源。