Characterization of the dog Agouti gene and a nonagouti mutation in German Shepherd Dogs
Characterization of the dog Agouti gene and a nonagouti mutation in German Shepherd Dogs
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DOI：
10.1007/s00335-004-2377-1
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发表时间：
2004-10-01
期刊：
影响因子：
2.5
通讯作者：
Barsh, GS
中科院分区：
文献类型：
--
作者：
Kerns, JA;Newton, J;Barsh, GS
Agti和Melanocortin-1受体(MC1R)这两个基因之间的相互作用，通过调节哺乳动物头发中两种色素类型的类型、数量和分布模式，在哺乳动物中产生不同的色素模式：真黑素(棕色/黑色)和黑色素(黄色/红色)。在家犬中，品种之间和品种内的毛色图案存在巨大的差异；然而，先前的研究表明，狗的色素类型转换的分子遗传学可能不同于其他哺乳动物。在这里，我们报道了家犬Agti基因的鉴定和特性，该基因编码的131个氨基酸的分泌蛋白与狐狸的同源物有98%的同源性，并定位于染色体CFA24上的保守连锁区域。对杜宾犬Agti基因、狐狸基因和180kb的杜宾犬基因组DNA的比较分析表明，与实验室小鼠一样，犬科动物中不同的色素类型转换模式是由不同启动子和未翻译的第一外显子的交替使用控制的。对拉布拉多犬、灰狗、澳大利亚牧羊犬和德国牧羊犬的一项小规模调查没有发现任何多态性，但我们在黑色德国牧羊犬中发现了一个单核苷酸变异，预计会导致密码子96处的Arg-to-Cys替换，这可能是统一黑色皮毛的隐性遗传的原因。
The interaction between two genes, Agouti and Melanocortin-1 receptor (Mc1r), produces diverse pigment patterns in mammals by regulating the type, amount, and distribution pattern of the two pigment types found in mammalian hair: eumelanin (brown/black) and pheomelanin (yellow/red). In domestic dogs (Canis familiaris), there is a tremendous variation in coat color patterns between and within breeds; however, previous studies suggest that the molecular genetics of pigment-type switching in dogs may differ from that of other mammals. Here we report the identification and characterization of the Agouti gene from domestic dogs, predicted to encode a 131-amino-acid secreted protein 98% identical to the fox homolog, and which maps to chromosome CFA24 in a region of conserved linkage. Comparative analysis of the Doberman Pinscher Agouti cDNA, the fox cDNA, and 180 kb of Doberman Pinscher genomic DNA suggests that, as with laboratory mice, different pigment-type-switching patterns in the canine family are controlled by alternative usage of different promoters and untranslated first exons. A small survey of Labrador Retrievers, Greyhounds, Australian Shepherds, and German Shepherd Dogs did not uncover any polymorphisms, but we identified a single nucleotide variant in black German Shepherd Dogs predicted to cause an Arg-to-Cys substitution at codon 96, which is likely to account for recessive inheritance of a uniform black coat.