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首页> 外文期刊>Biochemical Genetics >Polymorphism of the Goat Agouti Signaling Protein Gene and Its Relationship with Coat Color in Italian and Spanish Breeds
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Polymorphism of the Goat Agouti Signaling Protein Gene and Its Relationship with Coat Color in Italian and Spanish Breeds

机译：山羊Agouti信号蛋白基因的多态性及其与意大利和西班牙品种的皮毛颜色的关系

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摘要

Agouti signaling protein (ASIP) is one of the key players in the modulation of hair pigmentation in mammals. Binding to the melanocortin 1 receptor, ASIP induces the synthesis of phaeomelanin, associated with reddish brown, red, tan, and yellow coats. We have sequenced 2.8 kb of the goat ASIP gene in 48 individuals and identified two missense (Cys126Gly and Val128Gly) and two intronic polymorphisms. In silico analysis revealed that the Cys126Gly substitution may cause a structural change by disrupting a highly conserved disulfide bond. We studied its segregation in 12 Spanish and Italian goat breeds (N = 360) with different pigmentation patterns and found striking differences in the frequency of the putative loss-of-function Gly126 allele (Italian 0.43, Spanish Peninsular 0.08), but we did not observe a clear association with coat color. This suggests that the frequency of this putative loss-of-function allele has evolved under the influence of demographic rather than selection factors in goats from these two geographical areas.
机译：刺痛信号蛋白（ASIP）是调节哺乳动物毛发色素沉着的关键因素之一。与黑皮质素1受体结合后，ASIP诱导了phaeomelanin的合成，与红棕色，红色，棕褐色和黄色的外壳有关。我们已经在48个个体中测序了2.8 kb的山羊ASIP基因，并鉴定出两个错义（Cys126Gly和Val128Gly）和两个内含子多态性。在计算机分析中，Cys126Gly取代可能会通过破坏高度保守的二硫键而引起结构变化。我们研究了在十二种西班牙和意大利山羊品种（N = 360）中其色素沉着模式的分离，发现推定功能丧失的Gly 126 等位基因的频率存在显着差异（意大利语为0.43，西班牙语为半岛0.08），但我们没有观察到与外套颜色的明显关联。这表明，在这两个地理区域的山羊中，这种假定的功能丧失等位基因的频率在人口统计学而不是选择因子的影响下已经进化。

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