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Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene
Open accessAbstract
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.
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“Additional common variation includes promoter SNPs located in the 5 0 region of the APOE gene: À491A>T (rs449647), À427T>C (rs769446), and À219G>T (rs405509) [31,32].”
From Plasma levels of apolipoprotein E, APOE genotype and risk of dementia and ischemic heart disease: A review (2016) · cites this paper as [31]
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Metadata
- Authors
- Artiga, M. J., Bullido, M. J., Sastre, I., Recuero, M., Garcı́a, M. A., Aldudo, J., Vázquez, J., & Valdivieso, F.
- Affiliations
- Centro de Biología Molecular Severo Ochoa (ES)
- Corresponding author
- Valdivieso, Fernando
- Venue
- FEBS Letters
- Publisher
- Wiley
- Published
- 1998-01-09
- Volume
- 421
- Issue
- 2
- Pages
- 105-108
- ISSN
- 0014-5793 (ISSN-L)
- 1873-3468
- OpenAlex
- W1965849733
- Cited by
- 229
- References
- 16
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 2 · 2023: 1 · 2021: 5 · 2019: 4 · 2018: 7 · 2017: 6 · 2016: 4 · 2015: 12 · 2014: 5 · 2013: 8 · 2012: 3
- FWCI
- 7.23
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- FEBS Letters (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Centro de Biología Molecular Severo Ochoa
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- apolipoprotein E, APOE gene, transcriptional regulatory sequences, promoter polymorphism, genetic variants, transcriptional activity, nuclear protein binding, hepatoma cells, population genetics
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Alleles, Apolipoproteins E, Child, Child, Preschool, Electrophoresis, Polyacrylamide Gel, Gene Frequency, Genotype, Humans, Infant, Middle Aged, Nuclear Proteins, Polymorphism, Genetic, Promoter Regions, Genetic, Polymorphism, Restriction Fragment Length, Transcription, Genetic, Tumor Cells, Cultured
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