Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene

被引:220
作者
Artiga, MJ
Bullido, MJ
Sastre, I
Recuero, M
García, MA
Aldudo, J
Vázquez, J
Valdivieso, F [1 ]
机构
[1] Univ Autonoma Madrid, Dept Biol Mol, E-28049 Madrid, Spain
[2] Univ Autonoma Madrid, CSIC, Ctr Biol Mol Severo Ochoa, E-28049 Madrid, Spain
关键词
apolipoprotein E; promoter; polymorphism; denaturing gradient gel electrophoresis; transcription; nuclear protein binding;
D O I
10.1016/S0014-5793(97)01543-3
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:105 / 108
页数:4
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