| http://purl.uniprot.org/citations/31421124 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31421124 | http://www.w3.org/2000/01/rdf-schema#comment | "Both systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) are autoimmune diseases sharing similar genetic backgrounds. Genome-wide association studies have constantly disclosed numerous genetic variants conferring to both disease risks at 7q32.1, but the functional mechanisms underlying them are still largely unknown. Through a series of bioinformatics and functional analyses, we prioritized a potential independent functional single-nucleotide polymorphism (rs13239597) within TNPO3 promoter region, residing in a putative enhancer element and validated that IRF5 is the distal target gene (∼118 kb) of rs13239597, which is a key regulator involved in pathogenic autoantibody dysregulation, increasing risk of both SLE and SSc. We experimentally validated the long-range chromatin interactions between rs13239597 and IRF5 using chromosome conformation capture assay. We further demonstrated that rs13239597-A acted as an allele-specific enhancer regulating IRF5 expression, independently of TNPO3 by using dual-luciferase reporter assays and CRISPR-Cas9. Particularly, the transcription factor EVI1 could preferentially bind to rs13239597-A allele and increase the enhancer activity to regulate IRF5 expression. Taken together, our results uncovered a mechanistic insight of a noncoding functional variant acting as an allele-specific distal enhancer to directly modulate IRF5 expression, which might obligate in understanding of complex genetic architectures of SLE and SSc pathogenesis."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jid.2019.06.147"xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Chen H."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Guo Y."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Jiang F."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Yang M."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Chen H.H."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Yang T.L."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Rong Y."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Wang N.N."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Dong S.S."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Hu W.X."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Lu B.J."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Chen X.F."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Duan Y.Y."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Zhu D.L."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/author | "Thynn H.N."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/name | "J Invest Dermatol"xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/pages | "348-360.e11"xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/title | "An Allele-Specific Functional SNP Associated with Two Systemic Autoimmune Diseases Modulates IRF5 Expression by Long-Range Chromatin Loop Formation."xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://purl.uniprot.org/core/volume | "140"xsd:string |
| http://purl.uniprot.org/citations/31421124 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/31421124 |
| http://purl.uniprot.org/citations/31421124 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/31421124 |