RESCUE OF THE ALBINO PHENOTYPE BY INTRODUCTION OF A FUNCTIONAL TYROSINASE GENE INTO MICE
RESCUE OF THE ALBINO PHENOTYPE BY INTRODUCTION OF A FUNCTIONAL TYROSINASE GENE INTO MICE
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DOI：
10.1002/j.1460-2075.1990.tb07470.x
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发表时间：
1990-09-01
期刊：
影响因子：
11.4
通讯作者：
SCHUTZ, G
中科院分区：
文献类型：
--
作者：
BEERMANN, F;RUPPERT, S;SCHUTZ, G
老鼠的c基因座被认为编码酪氨酸酶，酪氨酸酶是皮肤和眼睛黑色素细胞合成黑色素的关键酶。最近，一个小鼠cDNA被分离出来，并被证明赋予酪氨酸活性的细胞系，没有表达黑色素合成的特殊功能。为了验证分离的酪氨酸酶基因编码在遗传特征良好的c位点，我们从酪氨酸酶cDNA和酪氨酸酶基因组DNA中组装了一个迷你基因，并用于转基因小鼠的产生。将该构建体显微注射到一种白化小鼠品系的受精卵中，获得了皮肤和眼睛有色素沉着的转基因小鼠。通过原位杂交，我们发现转基因在毛球的黑色素细胞和眼睛的色素细胞层中表达。我们的结论是，我们已经拯救了白化突变（c/c）通过引入和表达一个功能性酪氨酸酶基因。
The c-locus of the mouse is thought to encode tyrosinase, the key enzyme for melanin synthesis in melanocytes of the skin and the eye. Recently, a mouse cDNA was isolated and shown to confer tyrosine activity on a cell line which expressed no specialized functions for melanin synthesis. To verify that the isolated tyrosinase gene is encoded at the genetically well characterized c-locus, a minigene was assembled from tyrosinase cDNA and tyrosinase genomic DNA and used for generation of transgenic mice. Following microinjection of this construct into fertilized eggs of an albino mouse strain, transgenic mice were obtained which showed pigmentation in skin and eyes. By in situ hybridization, we show expression of the transgene in melanocytes of the hairbulb and in the pigmented cell layers of the eye. We conclude that we have rescued the albino mutation (c/c) by introduction and expression of a functional tyrosinase gene.