Beermann F, Schmid E, Ganss R, Schütz G, Ruppert S
Institute of Cell and Tumor Biology, German Cancer Research Center, Heidelberg.
Pigment Cell Res. 1992 Nov;5(5 Pt 2):295-9. doi: 10.1111/j.1600-0749.1992.tb00552.x.
Tyrosinase is the key enzyme in melanin synthesis, and is expressed in the pigment epithelium of the retina, a cell layer derived from the optic cup; and in neural crest-derived melanocytes of skin, hair follicle, choroid, and iris. The tyrosinase gene has been cloned and shown to map to the well-characterized c-locus (albino locus) of the mouse. Subsequent studies demonstrated that a functional tyrosinase minigene was able to rescue the albino phenotype in transgenic mice. The transgene was expressed in a cell type-specific manner in skin and eye. During development of the mouse, the tyrosinase gene is expressed in the pigment epithelium of the retina as early as day 10.5 of gestation. In the hair follicle, tyrosinase gene expression is detected from day 16.5 onwards. This cell-type-specific expression is largely reproduced in transgenic mice. Our results suggest that sequences in the immediate vicinity of the mouse tyrosinase gene are sufficient to provide cell type-specificity and developmental regulation in melanocytes and the pigment epithelium.
酪氨酸酶是黑色素合成中的关键酶,在视网膜色素上皮(源自视杯的细胞层)以及皮肤、毛囊、脉络膜和虹膜中由神经嵴衍生的黑素细胞中表达。酪氨酸酶基因已被克隆,并显示定位于小鼠特征明确的c位点(白化病位点)。随后的研究表明,一个功能性酪氨酸酶小基因能够挽救转基因小鼠的白化病表型。该转基因在皮肤和眼睛中以细胞类型特异性方式表达。在小鼠发育过程中,酪氨酸酶基因早在妊娠第10.5天就在视网膜色素上皮中表达。在毛囊中,从第16.5天开始检测到酪氨酸酶基因表达。这种细胞类型特异性表达在转基因小鼠中基本重现。我们的结果表明,小鼠酪氨酸酶基因紧邻区域的序列足以在黑素细胞和色素上皮中提供细胞类型特异性和发育调控。