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The Silver locus product Pmel17/gp100/Silv/ME20: controversial in name and in function

机译:银基因座产品Pmel17 / gp100 / Silv / ME20:名称和功能上引起争议

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Mouse coat color mutants have led to the identification of more than 120 genes that encode proteins involved in all aspects of pigmentation, from the regulation of melanocyte development and differentiation to the transcriptional activation of pigment genes, from the enzymatic formation of pigment to the control of melanosome biogenesis and movement [Bennett and Lamoreux (2003) Pigment Cell Res. 16, 333]. One of the more perplexing of the identified mouse pigment genes is encoded at the Silver locus, first identified by Dunn and Thigpen [(1930) J. Heredity 21, 495] as responsible for a recessive coat color dilution that worsened with age on black backgrounds. The product of the Silver gene has since been discovered numerous times in different contexts, including the initial search for the tyrosinase gene, the characterization of major melanosome constituents in various species, and the identification of tumor-associated antigens from melanoma patients. Each discoverer provided a distinct name: Pmel17, gp100, gp95, gp85, ME20, RPE1, SILV and MMP115 among others. Although all its functions are unlikely to have yet been fully described, the protein clearly plays a central role in the biogenesis of the early stages of the pigment organelle, the melanosome, in birds, and mammals. As such, we will refer to the protein in this review simply as pre-melanosomal protein (Pmel). This review will summarize the structural and functional aspects of Pmel and its role in melanosome biogenesis.
机译:小鼠皮毛颜色突变体已导致鉴定出120多个基因,这些基因编码涉及色素沉着各个方面的蛋白质,从黑素细胞发育和分化的调控到色素基因的转录激活,从色素的酶促形成到色素的控制。黑素体的生物发生和运动[Bennett and Lamoreux(2003)Pigment Cell Res。 16,333]。被鉴定出的小鼠色素基因中比较困惑的一种编码在Silver基因座上,首先由Dunn和Thigpen [(1930)J. Heredity 21,495]鉴定为造成隐性外套颜色稀释的原因,黑色背景上的颜色随着年龄的增长而恶化。 。自那时以来,已在不同背景下多次发现了Silver基因的产物,包括最初寻找酪氨酸酶基因,鉴定各种物种中主要黑素体成分以及鉴定来自黑素瘤患者的肿瘤相关抗原。每个发现者都提供了不同的名称:Pmel17,gp100,gp95,gp85,ME20,RPE1,SILV和MMP115等。尽管尚不可能充分描述其所有功能,但该蛋白质显然在鸟类和哺乳动物的色素细胞,黑素体的早期生物合成中起着核心作用。因此,在本综述中,我们将蛋白质简称为黑素体前蛋白质(Pmel)。这篇综述将总结Pmel的结构和功能方面及其在黑素体生物发生中的作用。

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