{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Gopalakrishnan J"],"funding":["National Institute of Allergy and Infectious Diseases","National Institute of Arthritis and Musculoskeletal and Skin Diseases","NIAID NIH HHS","Presbyterian Health Foundation","NIAMS NIH HHS","NIH","National Institute of General Medical Sciences","NIH HHS","NIGMS NIH HHS"],"pagination":["163-173"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8712360"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["74(1)"],"pubmed_abstract":["Objective
Genetic variants spanning UBE2L3 are associated with increased expression of the UBE2L3-encoded E2 ubiquitin-conjugating enzyme H7 (UbcH7), which facilitates activation of proinflammatory NF-κB signaling and susceptibility to autoimmune diseases. We undertook this study to delineate how genetic variants carried on the UBE2L3/YDJC autoimmune risk haplotype function to drive hypermorphic UBE2L3 expression.Methods
We used bioinformatic analyses, electrophoretic mobility shift assays, and luciferase reporter assays to identify and functionally characterize allele-specific effects of risk variants positioned in chromatin accessible regions of immune cells. Chromatin conformation capture with quantitative polymerase chain reaction (3C-qPCR), chromatin immunoprecipitatio"],"journal":["Arthritis & rheumatology (Hoboken, N.J.)"],"pubmed_title":["Variants on the UBE2L3/YDJC Autoimmune Disease Risk Haplotype Increase UBE2L3 Expression by Modulating CCCTC-Binding Factor and YY1 Binding."],"pmcid":["PMC8712360"],"funding_grant_id":["P30 GM110766","U54 GM104938","R01-AR-063124","UM1 AI144292","P30-AR-073750","P30‐AR‐073750","R01-AR-073606","U54‐GM‐104938","R01-AR-056360","R01‐AR‐063124","R01 AR056360","U19 AI082714","UM1-AI-144292","R01 AR063124","R01‐AR‐073606","UM1‐AI‐144292","P30 AR073750","P30‐GM‐110766","R01 AR073606","U54-GM-104938","P30-GM-110766","U19‐AI‐082714","U19-AI-082714","R01‐AR‐056360"],"pubmed_authors":["Pasula S","Fu Y","Gopalakrishnan J","Kelly JA","Pelikan RC","Wiley GB","Gaffney PM","Tessneer KL"],"additional_accession":[]},"is_claimable":false,"name":"Variants on the UBE2L3/YDJC Autoimmune Disease Risk Haplotype Increase UBE2L3 Expression by Modulating CCCTC-Binding Factor and YY1 Binding.","description":"Objective
Genetic variants spanning UBE2L3 are associated with increased expression of the UBE2L3-encoded E2 ubiquitin-conjugating enzyme H7 (UbcH7), which facilitates activation of proinflammatory NF-κB signaling and susceptibility to autoimmune diseases. We undertook this study to delineate how genetic variants carried on the UBE2L3/YDJC autoimmune risk haplotype function to drive hypermorphic UBE2L3 expression.Methods
We used bioinformatic analyses, electrophoretic mobility shift assays, and luciferase reporter assays to identify and functionally characterize allele-specific effects of risk variants positioned in chromatin accessible regions of immune cells. Chromatin conformation capture with quantitative polymerase chain reaction (3C-qPCR), chromatin immunoprecipitatio","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jan","modification":"2026-05-09T22:32:44.991Z","creation":"2024-12-03T22:57:37.19Z"},"accession":"S-EPMC8712360","cross_references":{"pubmed":["34279042"],"doi":["10.1002/art.41925"]}}