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 Spl, 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 14 mRNA in peripheral blood lymphocytes. (c) 2006 Elsevier B.V. All rights reserved.
Detection and functional analysis of an SNP in the promoter of the human ferritin H gene that modulates the gene expression / M. C., Faniello; A., Fregola; A., Nistico; B., Quaresima; T., Crugliano; Faraonio, Raffaella; P., Puzzonia; F., Baudi; G., Parlato; G., Cuda; G., Morrone; S., Venuta; F., Costanzo. - In: GENE. - ISSN 0378-1119. - ELETTRONICO. - 377:(2006), pp. 1-5. [10.1016/j.gene.2006.02.034]
Detection and functional analysis of an SNP in the promoter of the human ferritin H gene that modulates the gene expression
FARAONIO, RAFFAELLA;
2006
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 Spl, 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 14 mRNA in peripheral blood lymphocytes. (c) 2006 Elsevier B.V. All rights reserved.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
