title: Characterization and regulation of the nonerythroid porphobilinogen deaminase promoter.
abstract: 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.
authors.affiliation: Department of Molecular Medicine/Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
authors.forename: G
authors.initials: G
authors.lastname: Lundin
authors.forename: M
authors.initials: M
authors.lastname: Anvret
mesh_terms: D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D014176:Protein Biosynthesis; D017384:Sequence Deletion; D014158:Transcription, Genetic; D014407:Tumor Cells, Cultured
chemical_list: D011163:Hydroxymethylbilane Synthase