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哺乳动物色素沉着的细胞和分子特征——酪氨酸酶与酪氨酸酶相关蛋白

[Cellular and molecular features of mammalian pigmentation--tyrosinase and TRP].

作者信息

Camacho-Hübner A, Beermann F

机构信息

ISREC (Institut suisse de recherche expérimentale sur le cancer), Epalinges, Suisse.

出版信息

Pathol Biol (Paris). 2000 Jul;48(6):577-83.

Abstract

Melanin pigments are found in all biological kingdoms. At the cellular level, correct pigmentation depends not only on correct migration of pigment cells (melanocytes) and their precursors (melanoblasts), but also on specialized cytoplasmic organelles, melanosomes. Three pigment cell-specific enzymes inside melanosomes are involved in melanogenesis: tyrosinase, TRP-1 and TRP-2/DOPA-chrome tautomerase. A point mutation of tyrosinase is sufficient to give rise to a nonfunctional enzyme, leading to albinism and associated decreased visual acuity. Several regulatory elements have been identified within the promoters of the genes encoding these three enzymes. These promoter fragments have been used to target the expression of heterogeneous genes in pigment cells of transgenic mice.

摘要

黑色素存在于所有生物界。在细胞水平上,正确的色素沉着不仅取决于色素细胞(黑素细胞)及其前体(成黑素细胞)的正确迁移,还取决于特殊的细胞质细胞器——黑素小体。黑素小体内三种色素细胞特异性酶参与黑色素生成:酪氨酸酶、TRP-1和TRP-2/多巴色素互变异构酶。酪氨酸酶的一个点突变就足以产生无功能的酶,导致白化病及相关的视力下降。在编码这三种酶的基因启动子内已鉴定出几种调控元件。这些启动子片段已被用于在转基因小鼠的色素细胞中靶向异源基因的表达。

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