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J. Biol. Chem., Vol. 269, Issue 26, 17371-17374, Jul, 1994

A polymorphism (G-->A transition) in the -78 position of the apolipoprotein A-I promoter increases transcription efficiency

E Angotti, E Mele, F Costanzo and EV Avvedimento
Dipartimento di Medicina Sperimentale e Clinica, Facolta di Medicina e Chirurgia di Catanzaro, Universita degli Studi di Reggio Calabria, Italy.

AG-->A transition at -78 base pairs from the transcription start site of the apolipoprotein A-I (apoA-I) gene has been associated with increased apoA-I serum levels in humans. We report here that this mutation (G-->A) increases significantly (5-7-fold) the expression of a reporter gene fused to the apoA-I promoter in human liver and intestine cells. In addition, the presence of A at -78 base pairs from the transcription start site of the gene significantly decreases the binding affinity of a nuclear factor present in liver and intestine cells. We suggest that the reduced affinity of this factor increases the transcription efficiency of the promoter and explains why individuals carrying the A allele have high serum apoA-I levels.
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