title: Detection and functional analysis of an SNP in the promoter of the human ferritin H gene that modulates the gene expression.
abstract: The H ferritin promoter spans approximately 150 bp, upstream of the transcription start and is composed by two cis-elements in position -132 (A box) and -62 (B-box), respectively. The A box is recognized by the transcription factor Sp1, and the B-box by a protein complex called Bbf, which includes the CAAT binding factor NF-Y. In this study we performed a functional analysis of an H ferritin promoter allele carrying a G to T substitution adjacent to the Bbf binding site, in position -69. In vitro studies with reporter constructs revealed a significantly reduced transcriptional activity of this allele compared to that of the w.t. promoter that was mirrored by a decrease in Bbf binding. In vivo, this variant genotype is accompanied by a reduced amount of the H mRNA in peripheral blood lymphocytes.
authors.affiliation: Dipartimento di Medicina Sperimentale e Clinica G. Salvatore, Università di Catanzaro Magna Graecia, Campus Universitario, Germaneto, Italy.
authors.forename: Maria Concetta
authors.initials: MC
authors.lastname: Faniello
authors.forename: Annalisa
authors.initials: A
authors.lastname: Fregola
authors.forename: Antonia
authors.initials: A
authors.lastname: Nisticò
authors.forename: Barbara
authors.initials: B
authors.lastname: Quaresima
authors.forename: Telma
authors.initials: T
authors.lastname: Crugliano
authors.forename: Raffaella
authors.initials: R
authors.lastname: Faraonio
authors.forename: Pasquale
authors.initials: P
authors.lastname: Puzzonia
authors.forename: Francesco
authors.initials: F
authors.lastname: Baudi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Parlato
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cuda
authors.forename: Giovanni
authors.initials: G
authors.lastname: Morrone
authors.forename: Salvatore
authors.initials: S
authors.lastname: Venuta
authors.forename: Francesco
authors.initials: F
authors.lastname: Costanzo
mesh_terms: D000483:Alleles; D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D023081:CCAAT-Binding Factor / Q000378:metabolism; D004247:DNA / Q000235:genetics / Q000378:metabolism; D005293:Ferritins / Q000235:genetics*; D015870:Gene Expression; D006367:HeLa Cells; D006801:Humans; D066298:In Vitro Techniques; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D011485:Protein Binding; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D016329:Sp1 Transcription Factor / Q000378:metabolism; D014158:Transcription, Genetic
chemical_list: D023081:CCAAT-Binding Factor; D012333:RNA, Messenger; D016329:Sp1 Transcription Factor; D004247:DNA; D005293:Ferritins