Bouchard B, Del Marmol V, Jackson I J, Cherif D, Dubertret L
Institut National de la Santé et de la Recherche Médicale, Service Dermatologie, Paris, France.
Eur J Biochem. 1994 Jan 15;219(1-2):127-34. doi: 10.1111/j.1432-1033.1994.tb19922.x.
Pigmentation in mammals is under complex genetic control. Amongst the genes involved in this process, those encoding tyrosinase and the tyrosinase-related-proteins 1 and 2 have been well characterized and share a number of features. Recently, the murine tyrosinase-related-protein-2 gene was shown to encode dopachrome-tautomerase activity and was mapped to the slaty locus. Human tyrosinase and tyrosinase-related-protein-1 genes have been isolated and demonstrate a high degree of similarity with their murine counterparts. However, there has been limited data regarding the existence of a human homologue for tyrosinase-related-protein-2 and its relationship to the other tyrosinase-related proteins. In this study, we report the molecular isolation of a cDNA encoding a human homologue of the murine tyrosinase-related-protein-2/dopachrome tautomerase. We have characterized its expression in human melanocytic cells and have analyzed the relationship between dopachrome tautomerase and tyrosinase activities with the level of visible pigmentation in these cells. TYRP2 has been mapped to the chromosomal region 13q32, thus extending a region of synteny with mouse-chromosome 14.
哺乳动物的色素沉着受复杂的基因控制。在参与这一过程的基因中，那些编码酪氨酸酶以及酪氨酸酶相关蛋白1和2的基因已得到充分表征，并具有一些共同特征。最近，小鼠酪氨酸酶相关蛋白2基因被证明编码多巴色素互变异构酶活性，并被定位到石板色基因座。人类酪氨酸酶和酪氨酸酶相关蛋白1基因已被分离出来，并与其小鼠对应基因表现出高度相似性。然而，关于人类酪氨酸酶相关蛋白2同源物的存在及其与其他酪氨酸酶相关蛋白的关系的数据有限。在本研究中，我们报告了编码小鼠酪氨酸酶相关蛋白2/多巴色素互变异构酶人类同源物的cDNA的分子分离。我们已经表征了它在人类黑素细胞中的表达，并分析了多巴色素互变异构酶和酪氨酸酶活性与这些细胞中可见色素沉着水平之间的关系。TYRP2已被定位到染色体区域13q32，从而扩展了与小鼠染色体14的同线区域。
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