Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene

FEBS Letters

Vázquez, Jesús¹  Recuero, Marı́a¹  Garcı́a, Miguel A¹  Sastre, Isabel¹  Aldudo, Jesús¹  Valdivieso, Fernando¹  Artiga, Marı́a J¹  Bullido, Marı́a J¹ 

[1] Departamento de Biologı́a Molecular and Centro de Biologı́a Molecular Severo Ochoa (C.S.I.C.-U.A.M.), Universidad Autónoma de Madrid, Cantoblanco, 28049 Madrid, Spain

关键词: Apolipoprotein E;    Promoter;    Polymorphism;    Denaturing gradient gel electrophoresis;    Transcription;    Nuclear protein binding;    APOE;    apolipoprotein E gene;    ApoE;    apolipoprotein E;    DGGE;    denaturing gradient gel electrophoresis;    AD;    Alzheimer's disease;   

DOI  :  10.1016/S0014-5793(97)01543-3

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 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.

【 授权许可】

Unknown