Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene
- 9 January 1998
- journal article
- Published by Wiley in FEBS Letters
- Vol. 421 (2) , 105-108
- https://doi.org/10.1016/s0014-5793(97)01543-3
Abstract
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.Keywords
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