Abstract：
To date, only 10 of the more than 30 fur colours that had been observed in American mink (Neogale vison) have been linked to specific genes. The Royal pastel fur colour is part of a large family of brownish colours that are quite similar to one another, making breeding and selecting processes more difficult. Here we carried out whole-genome sequencing of five American minks with Royal pastel (b/b) phenotypes originating from two distinct mink populations. We identified an insertion of endogenous retroviral element type 1 (ERV1) into the first intron of the gene encoding the HPS3 protein, which regulates the trafficking of tyrosinase-containing vesicles to maturing melanosomes. With Cas9-targeted nanopore sequencing, we reconstructed the full-length sequence of the 11.7 Kb ERV1 insertion and observed hypermethylation that spread to the HPS3 gene promoter region. These findings highlight the role of HPS3 in the formation of melanosomes and melanin, as well as the genetic process regulating the intensity and spectrum of hair colour. Moreover, in mink breeding projects, these data are also useful for tracking economically important fur qualities.
摘要：
迄今为止,在美国水貂（Neogalevison）中观察到的30多种毛皮颜色中，只有10种与特定基因有关。皇家柔和的皮草颜色是彼此非常相似的大量棕色颜色的一部分，使育种和选择过程更加困难。在这里，我们对来自两个不同水貂种群的五种具有皇家粉彩（b/b）表型的美国水貂进行了全基因组测序。我们确定了内源性逆转录病毒元件1型（ERV1）插入编码HPS3蛋白的基因的第一个内含子，它调节含有酪氨酸酶的囊泡向成熟黑色素体的运输。通过Cas9靶向纳米孔测序，我们重建了11.7KbERV1插入的全长序列,并观察到高甲基化扩散到HPS3基因启动子区.这些发现强调了HPS3在黑色素和黑色素形成中的作用，以及调节头发颜色强度和光谱的遗传过程。此外，在水貂育种项目中，这些数据对于跟踪经济上重要的毛皮质量也很有用。
