Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene

Artiga, Marı́a J; Bullido, Marı́a J; Sastre, Isabel; Recuero, Marı́a; Garcı́a, Miguel A; Aldudo, Jesús; Vázquez, Jesús; Valdivieso, Fernando

doi:10.1016/s0014-5793(97)01543-3

Cited by 229Genetic Associations and EpidemiologyAlzheimer's disease research and treatmentsGenomics and Chromatin Dynamics

Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene

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Artiga, Marı́a J, Bullido, Marı́a J, Sastre, Isabel, Recuero, Marı́a, Garcı́a, Miguel A, Aldudo, Jesús, Vázquez, Jesús, Valdivieso, Fernando·1998·FEBS Letters

DOI 10.1016/s0014-5793(97)01543-3

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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.

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Additional common variation includes promoter SNPs in the 5' region of APOE: -491A>T (rs449647), -427T>C (rs769446), and -219G>T (rs405509).
“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]
The Results and discussion identifies promoter polymorphisms at −491 A/T, −427 T/C, and −219 T/G, and reports measuring their frequencies in 215 individuals. The paper does not give the three rs identifiers, so our copy cannot verify the claimed mappings; G/T at −219 describes the same allele pair in reverse order. (LLM, conf=0.82)
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Corder, E.H., Saunders, A.M., Strittmatter, W.J., Schmechel, D., Gaskell, P.C., Small, G.W., Roses, A.D., Haines, J.L. and Peri- cak-Vance, M.A. (1993) Science 261, 921^923.
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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
ORCID: Sastre, Isabel
Aldudo, Jesús
Vázquez, Jesús
Venue: FEBS Letters
Publisher: Wiley
Published: 1998-01-09
Volume: 421
Issue: 2
Pages: 105-108
ISSN: 0014-5793 (ISSN-L)
1873-3468
DOI: 10.1016/s0014-5793(97)01543-3
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
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 32 d)
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
Health Sciences › Medicine › Physiology › 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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Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene

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