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首页> 外文期刊>Pigment cell research >The zebrafish mutant vps18 as a model for vesicle-traffic related hypopigmentation diseases
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The zebrafish mutant vps18 as a model for vesicle-traffic related hypopigmentation diseases

机译：斑马鱼突变体vps18作为囊泡交通相关色素沉着疾病的模型

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Hypopigmentation is a characteristic of several diseases associated with vesicle traffic defects, like the Hermansky-Pudlak, Chediak-Higashi, and Griscelli syndromes. Hypopigmentation is also a characteristic of the zebrafish mutant vps18(hi2499A), which is affected in the gene vps18, a component of the homotypic fusion and protein sorting complex that is involved in tethering during vesicular traffic. Vps18, as part of this complex, participates in the formation of early endosomes, late endosomes, and lysosomes. Here, we show that Vps18 is also involved in the formation of melanosomes. In the zebrafish mutant vps18(hi2499A) the retroviral insertion located at exon 4 of vps18, leads to the formation of two abnormal splicing variants lacking the coding sequence for the clathrin repeat and the RING finger conserved domains. A deficiency of Vps18 in zebrafish larvae results in hepatomegaly and skin hypopigmentation. We also observed a drastic reduction in the number of melanosomes in the eye's retinal pigmented epithelium along with the accumulation of immature melanosomes. A significant reduction in the vps18(hi2499A) larvae visual system capacity was found using the optokinetic response assay. We propose that the insertional mutant vps18(hi2499A) can be used as a model for studying hypopigmentation diseases in which vesicle traffic problems exist.
机译：色素沉着不足是与囊泡交通缺陷相关的几种疾病的特征，例如赫曼斯基-普德拉克，谢迪亚克-东和格里塞利综合征。色素沉着不足也是斑马鱼突变体vps18（hi2499A）的特征，该突变体受基因vps18的影响，vps18是同型融合和蛋白质分选复合体的一个组成部分，在囊泡运输过程中参与系链。作为该复合物的一部分，Vps18参与早期内体，晚期内体和溶酶体的形成。在这里，我们显示Vps18也参与黑素体的形成。在斑马鱼突变体vps18（hi2499A）中，位于vps18外显子4的逆转录病毒插入导致两个异常剪接变体的形成，它们缺少网格蛋白重复序列​​和RING指保守域的编码序列。斑马鱼幼虫中Vps18的缺乏会导致肝肿大和皮肤色素减退。我们还观察到，眼睛的视网膜色素上皮细胞中黑素体的数量急剧减少，而未成熟黑素体的积累也随之减少。使用光动力学反应测定法，发现vps18（hi2499A）幼虫视觉系统能力显着降低。我们建议插入突变体vps18（hi2499A）可以用作研究色素沉着疾病的模型，其中存在囊泡运输问题。

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