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Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene
Author(s) -
Artiga Marı́a J,
Bullido Marı́a J,
Sastre Isabel,
Recuero Marı́a,
Garcı́a Miguel A,
Aldudo Jesús,
Vázquez Jesús,
Valdivieso Fernando
Publication year - 1998
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(97)01543-3
Subject(s) - electrophoretic mobility shift assay , gene , microbiology and biotechnology , biology , transfection , allele , genetics , apolipoprotein e , apolipoprotein b , promoter , transcriptional regulation , single nucleotide polymorphism , gene expression , genotype , biochemistry , cholesterol , medicine , disease , pathology
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.