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首页> 外文期刊>The Journal of investigative dermatology. >Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.
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Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.

机译：5型Hermansky-Pudlak综合征中黑素细胞特异性蛋白的不当贩运。

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摘要

Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis resulting in melanosome dysfunction and absent platelet dense bodies. HPS patients have oculocutaneous albinism, bruising, and bleeding. HPS-5 results from deficiency of the HPS5 protein, a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). HPS5 has an unknown function and lacks homology to known proteins. We performed ultrastructural studies of HPS-5 melanocytes revealing predominantly early-stage melanosomes with many small 3,4(OH)2-phenylalanine-positive vesicles throughout the cell body and dendrites. These findings resemble the distinct ultrastructural features of HPS-3 melanocytes; HPS3 is also a BLOC-2 component. Immunofluorescence and immunoEM studies showed decreased TYRP1 labeling in the dendrites of HPS-5 melanocytes, and the overall abundance of TYRP1 was reduced. No substantial differences were observed in the distribution or abundance of Pmel17 in HPS-5 melanocytes. In normalmelanocytes, endogenous tyrosinase colocalized with Pmel17 and TYRP1 in the perinuclear area and dendritic tips; this was much reduced in HPS-5 melanocytes, particularly in the tips. We conclude that early stage melanosome formation and Pmel17 trafficking are preserved in HPS5-deficient cells. Tyrosinase and TYRP1 are mistrafficked, however, and fail to be efficiently delivered to melanosomes of HPS-5 melanocytes.
机译：Hermansky-Pudlak综合征（HPS）是一种与溶酶体相关的细胞器生物发生的疾病，导致黑素体功能障碍和血小板致密体缺失。 HPS患者患有眼白化病，青紫和出血。 HPS-5是由HPS5蛋白的缺乏引起的，HPS5蛋白是溶酶体相关细胞器复合物2（BLOC-2）的生物合成的组成部分。 HPS5功能未知，与已知蛋白质缺乏同源性。我们进行了HPS-5黑色素细胞的超微结构研究，揭示了主要的早期黑素体，在整个细胞体和树突中具有许多小的3,4（OH）2-苯丙氨酸阳性小囊泡。这些发现类似于HPS-3黑色素细胞的独特超微结构特征。 HPS3也是BLOC-2组件。免疫荧光和免疫EM研究表明，HPS-5黑色素细胞树突中的TYRP1标记减少，并且TYRP1的总体丰度降低。在HPS-5黑色素细胞中，Pmel17的分布或丰度没有发现实质性差异。在正常的黑素细胞中，内源性酪氨酸酶与Pmel17和TYRP1在核周区域和树突尖端共定位。在HPS-5黑色素细胞中，尤其是在尖端，这种情况大大减少。我们得出的结论是，早期的黑素体形成和Pmel17转运保留在HPS5缺陷细胞中。酪氨酸酶和TYRP1错配，但不能有效地传递到HPS-5黑色素细胞的黑素体。

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