
pmid: 9070289
The non-erythroid porphobilinogen deaminase (E.C. 4.3.1.8) promoter was investigated according to sequence changes and transcriptional activity. The minimal promoter sequence required for maximal transcription, was localized by deletion mapping to -243 to -115 relative to the translational start site. A negative transcriptional element was found between -55 and +1, indicating a repression mechanism. A new polymorphism was identified, at position -235 within the minimal promoter, both in acute intermittent porphyria patients and healthy control subjects. The polymorphic variants did not affect expression of cloned promoter fragments under the conditions used.
Hydroxymethylbilane Synthase, Polymorphism, Genetic, Transcription, Genetic, Protein Biosynthesis, Tumor Cells, Cultured, Humans, Promoter Regions, Genetic, Sequence Deletion
Hydroxymethylbilane Synthase, Polymorphism, Genetic, Transcription, Genetic, Protein Biosynthesis, Tumor Cells, Cultured, Humans, Promoter Regions, Genetic, Sequence Deletion
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