Abstract：
Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by albinism, visual impairment, and blood platelet dysfunction. One of the genes responsible for Hermansky-Pudlak syndrome, hps1, regulates organelle biogenesis and thus plays important roles in melanin production, blood clotting, and the other organelle-related functions in humans and mice. However, the function of hps1 in other species remains poorly understood. In this study, we discovered albino medaka fish during the maintenance of a wild-derived population and identified hps1 as the responsible gene using positional cloning. In addition to the specific absence of melanophore pigmentation, the hps1 mutant showed reduced blood coagulation, suggesting that hps1 is involved in clotting caused by both mammalian platelets and fish thrombocytes. Together, the findings of our study demonstrate that hps1 has an evolutionarily conserved role in melanin production and blood coagulation. In addition, our study presents a useful vertebrate model for understanding the molecular mechanisms of Hermansky-Pudlak syndrome.
摘要：
Hermansky-Pudlak综合征是一种以白化病为特征的常染色体隐性遗传疾病，视力障碍，和血小板功能障碍.赫尔曼斯基-普德拉克综合征的基因之一,hps1，调节细胞器生物发生，因此在黑色素产生中起重要作用，血液凝固,以及人类和小鼠的其他细胞器相关功能。然而,hps1在其他物种中的功能仍然知之甚少。在这项研究中,我们在维持野生种群的过程中发现了白化病medaka鱼，并使用位置克隆将hps1鉴定为负责基因。除了特定的黑色素细胞色素沉着的缺乏，hps1突变体显示出降低的血液凝固，这表明hps1与哺乳动物血小板和鱼类血小板引起的凝血有关。一起,我们的研究结果表明，hps1在黑色素产生和血液凝固中具有进化上保守的作用。此外,我们的研究为理解Hermansky-Pudlak综合征的分子机制提供了一个有用的脊椎动物模型.
