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 t...

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Bibliographic Details
Published in:The Journal of biological chemistry 1994-07, Vol.269 (26), p.17371-17374
Main Authors: ANGOTTI, E, MELE, E, COSTANZO, F, AVVEDIMENTO, V
Format: Article
Language:English
Subjects:
Adenine
Apolipoprotein A-I - genetics
Apolipoprotein A-I - metabolism
Base Sequence
Biological and medical sciences
Fundamental and applied biological sciences. Psychology
Guanine
Humans
Molecular and cellular biology
Molecular genetics
Molecular Sequence Data
Mutation
Nuclear Proteins - metabolism
Oligodeoxyribonucleotides
Point Mutation
Polymorphism, Genetic
Promoter Regions, Genetic
Transcription, Genetic
Transcription. Transcription factor. Splicing. Rna processing
Tumor Cells, Cultured
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Summary: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.
ISSN:0021-9258
1083-351X
DOI:10.1016/s0021-9258(17)32445-6