Abstract
Mutations in the TNFRSF1A gene encoding the TNF cell surface receptor, TNFR1, cause TNFR-associated periodic syndrome (TRAPS) and polymorphisms in TNFRSF1A, including rs4149570, rs767455 and rs1800692, are associated with inflammatory diseases.
Highlights
Mutations in the TNFRSF1A gene encoding the TNF cell surface receptor, TNFR1, cause TNFR-associated periodic syndrome (TRAPS) and polymorphisms in TNFRSF1A, including rs4149570, rs767455 and rs1800692, are associated with inflammatory diseases
We describe a novel exon 2-spliced transcript, named TNFR1-d2, and the impact of these 3 SNPs on exon 2 splicing, transcriptional activity of TNFRSF1A and TRAPS phenotype
Our study provides a novel mechanism of TNFRSF1A regulation whereby three polymorphisms in the promoter, exon 1 and intron 4 have a functional and combined effect on exon 2 splicing, via a coupling mechanism between transcription and splicing
Summary
Mutations in the TNFRSF1A gene encoding the TNF cell surface receptor, TNFR1, cause TNFR-associated periodic syndrome (TRAPS) and polymorphisms in TNFRSF1A, including rs4149570, rs767455 and rs1800692, are associated with inflammatory diseases. OR10-002 - A novel TNFR1 transcript of TRAPS gene C Rittore1, E Sanchez1, S Soler1, M Albers2, L Obici3, MF McDermott4, I Touitou1, S Grandemange1* From 7th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID) Lausanne, Switerland.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
