Molecular genetic analysis of a human insulin-like growth factor 1 promoter P1 variation

Insulin-like growth factor 1 (IGF1) exerts important endocrine and paracrine functions in the cardiovascular system. We identified the common variant -1411C>T in the IGF1 upstream promoter P1, located within several overlapping transcription factor binding sites. Using transient transfection assa...

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Bibliographic Details
Published in:The FASEB journal 2009-05, Vol.23 (5), p.1303-1313
Main Authors: Telgmann, Ralph, Dördelmann, Corinna, Brand, Eva, Nicaud, Viviane, Hagedorn, Claudia, Pavenstädt, Hermann, Cambien, François, Tiret, Laurence, Paul, Martin, Brand-Herrmann, Stefan-Martin
Format: Article
Language:English
Subjects:
bandshift assay
Base Sequence
CCAAT-Enhancer-Binding Protein-delta - genetics
Cell Line, Tumor
Cells, Cultured
Computational Biology
Consensus Sequence
Enhancer Elements, Genetic - genetics
Female
functional analysis
gene expression
Humans
hypertension
Hypertension - genetics
Insulin-Like Growth Factor I - genetics
Interferon Regulatory Factors - genetics
Male
Middle Aged
Promoter Regions, Genetic
reporter gene
transcription factor
Transcription, Genetic - physiology
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Summary:Insulin-like growth factor 1 (IGF1) exerts important endocrine and paracrine functions in the cardiovascular system. We identified the common variant -1411C>T in the IGF1 upstream promoter P1, located within several overlapping transcription factor binding sites. Using transient transfection assays, we identified this site as a functional enhancer. The T allele-carrying enhancer, compared with the C allelic portion, exerts significantly reduced or even abrogated activity, respectively, in SaOs-2 and HepG2 (all PT is also associated with other IGF1-related disease phenotypes should be evaluated further in population studies.--Telgmann, R., Dördelmann, C., Brand, E., Nicaud, V., Hagedorn, C., Pavenstädt, H., Cambien, F., Tiret, L., Paul, M., Brand-Herrmann, S.-M. Molecular genetic analysis of a human insulin growth factor 1 promoter P1 variation.
ISSN:0892-6638
1530-6860
DOI:10.1096/fj.08-116863