Sable (Martes zibellina) is one of the most valuable species of fur animals. Wild-type sable fur color varies from sandy-yellow to black. Farm breeding and 90 years of directional selection have resulted in a generation of several sable breeds with a completely black coat color. In 2005, an unusually chocolate (pastel) puppy was born in the Puschkinsky State Fur Farm (Russia). We established that the pastel phenotype was inherited as a Mendelian autosomal recessive trait. We performed whole-genome sequencing of the sables with pastel fur color and identified a frameshift variant in the gene encoding membrane-bound tyrosinase-like enzyme (TYRP1). TYRP1 is involved in the stability of the tyrosinase enzyme and participates in the synthesis of eumelanin. These data represent the first reported variant linked to fur color in sables and reveal the molecular genetic basis for pastel color pigmentation. These data are also useful for tracking economically valuable fur traits in sable breeding programs.

中文翻译：

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貂毛颜色的基因组分析将减轻的色素沉着表型链接到酪氨酸酶相关蛋白1基因的移码变体。

黑貂（Martes zibellina）是毛皮动物中最有价值的物种之一。野生型貂毛颜色从沙黄色到黑色不等。农场育种和90年的定向选择已产生了几只黑毛全黑的黑貂品种。2005年，一只不寻常的巧克力（粉彩）小狗在普斯基金斯基州皮草农场（俄罗斯）出生。我们建立了柔和的表型作为孟德尔常染色体隐性遗传。我们对柔和的毛皮颜色的黑貂进行了全基因组测序，并在编码膜结合酪氨酸酶样酶（TYRP1）的基因中鉴定了移码变体）。TYRP1参与酪氨酸酶的稳定性，并参与Eumelanin的合成。这些数据代表了与貂皮颜色有关的第一个报道的变体，并揭示了柔和色色素沉着的分子遗传基础。这些数据对于跟踪黑貂育种计划中具有经济价值的毛皮特征也很有用。