A polymorphism (G-->A transition) in the -78 position of the apolipoprotein A-I promoter increases transcription efficiency.
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.
Dipartimento di Medicina Sperimentale e Clinica, Facoltà di Medicina e Chirurgia di Catanzaro, Università degli Studi di Reggio Calabria, Italy.
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D000225:Adenine; D016632:Apolipoprotein A-I / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D006147:Guanine; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000378:metabolism; D009838:Oligodeoxyribonucleotides; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D014158:Transcription, Genetic; D014407:Tumor Cells, Cultured
D016632:Apolipoprotein A-I; D009687:Nuclear Proteins; D009838:Oligodeoxyribonucleotides; D006147:Guanine; D000225:Adenine