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Transcription efficiency of human apolipoprotein A‐I promoter varies with naturally occurring A to G transition
Author(s) -
Tuteja Renu,
Tuteja Narendra,
Melo Carlos,
Casari Giorgio,
Baralle Francisco E.
Publication year - 1992
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(92)80597-a
Subject(s) - promoter , microbiology and biotechnology , transcription (linguistics) , coding region , apolipoprotein b , gene , transition (genetics) , promoter activity , biology , point mutation , reporter gene , mutation , gene expression , genetics , chemistry , biochemistry , cholesterol , linguistics , philosophy
In human, the gene coding for apolipoprotein A‐I (apo A‐I), a protein of the plasma lipid transport system, is expressed only in the liver and the intestine. A naturally occurring A to G substitution in the promoter at position −78 was shown to be associated with high density lipoproteins (HDL) in females. We have studied the effect of this mutation on promoter activity using various lengths of promoter sequences and the CAT reporter gene system. Transient expression studies after introduction of these constructs into Hep 3B cells revealed that in the region spanning −330 to +1 of the promoter an A to G substitution increases the activity approximately twofold. On the other hand, when further upstream region (−1469 to +397) is also included, the promoter activity seems comparable in both alleles. Our results show how minimal sequence variations can affect the in vitro analysis of promoter activity.