Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene
Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene
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DOI：
10.1016/s0014-5793(97)01543-3
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发表时间：
1998-01-09
期刊：
影响因子：
3.5
通讯作者：
Valdivieso, F
中科院分区：
文献类型：
--
作者：
Artiga, MJ;Bullido, MJ;Valdivieso, F
在这项工作中，我们探讨了存在的遗传变异的载脂蛋白E基因转录调控区，使用变性梯度凝胶电泳筛选的区域，包括核苷酸-1017至+406。在人口研究，三个新的多态位点，（-491、-427和-219）和两个突变。在人肝癌细胞系中通过瞬时转染和电泳迁移率改变分析来测定多态性的功能效应，表明APOE启动子的-491和-219位点的多态性引起基因转录活性的变化，最有可能是通过核蛋白的差异结合。(C)1998年欧洲生物化学学会联合会。
In this work, we explored the existence of genetic variants within the apolipoprotein E gene transcriptional regulatory region, using a denaturing gradient gel electrophoresis screening of a region comprising nucleotides -1017 to +406. Upon a population study, three new polymorphic sites (-491, -427 and -219) and two mutations were found, Functional effects of the polymorphisms, assayed by transient transfection and electrophoretic mobility shift assays in a human hepatoma cell Line, showed that polymorphisms at sites -491 and -219 of the APOE promoter produce variations in the transcriptional activity of the gene, most probably through differential binding of nuclear proteins. (C) 1998 Federation of European Biochemical Societies.