http://purl.uniprot.org/citations/20846942 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/20846942 | http://www.w3.org/2000/01/rdf-schema#comment | "Interferon regulatory factor-1 (IRF-1), a transcription regulator involved both in inducing and in mediating the effects of interferon, is encoded by a highly polymorphic gene in different ethnic populations. Some of these genetic variations have been described to be associated to disease traits in hepatitis C virus and in human immunodeficiency virus infection, including one single-nucleotide polymorphism rs2549009 within the promoter region. This study aimed at investigating the functional relevance of rs2549009 on IRF-1 transcriptional activity in peripheral blood mononuclear cells in its natural genomic environment. Haplotype-specific chromatin immunoprecipitation using antibodies directed against both the transcriptionally inactive and active RNA polymerase II (RNAPII) and allele-specific transcript quantification techniques were applied to ex vivo-derived samples from healthy heterozygous donors. Inactive serine 5 phosphorylated RNAPII was found to be preferentially bound to the rs2549009 A allele in all donors investigated. Active serine 2 phosphorylated (ser2-P) RNAPII, in contrast, was found to be precipitable, depending on the donor, preferentially either with the A or the G promoter variants or without any preference. The ratio of rs2549009 A/G promoter variants engaged by ser2-P RNAPII was closely related to the relative frequency of the respective IRF-1 transcripts, and relative allelic expression was found to be associated to total IRF-1 gene expression. These results provide evidence for a bidirectional IRF-1 gene expression imbalance that appears not to be solely controlled by rs2549009 in cis and may rely on a yet unidentified variant or haplotype or on environmental control in trans."xsd:string |
http://purl.uniprot.org/citations/20846942 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddq386"xsd:string |
http://purl.uniprot.org/citations/20846942 | http://purl.uniprot.org/core/author | "Mertens J."xsd:string |
http://purl.uniprot.org/citations/20846942 | http://purl.uniprot.org/core/author | "Ramadori G."xsd:string |
http://purl.uniprot.org/citations/20846942 | http://purl.uniprot.org/core/author | "Mihm S."xsd:string |
http://purl.uniprot.org/citations/20846942 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
http://purl.uniprot.org/citations/20846942 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
http://purl.uniprot.org/citations/20846942 | http://purl.uniprot.org/core/pages | "4587-4594"xsd:string |
http://purl.uniprot.org/citations/20846942 | http://purl.uniprot.org/core/title | "Functional relevance of the IRF-1 promoter polymorphism rs2549009 on transcriptional activity in a native genomic environment."xsd:string |
http://purl.uniprot.org/citations/20846942 | http://purl.uniprot.org/core/volume | "19"xsd:string |
http://purl.uniprot.org/citations/20846942 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/20846942 |
http://purl.uniprot.org/citations/20846942 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/20846942 |
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