Role of RUNX in autoimmune diseases linking rheumatoid arthritis, psoriasis and lupus 英文参考文献.docVIP

Available online /content/6/4/169 Review Role of RUNX in autoimmune diseases linking rheumatoid arthritis, psoriasis and lupus Marta E Alarcón-Riquelme Department of Genetics and Pathology, Rudbeck Laboratory, University of Uppsala, Uppsala, Sweden Corresponding author: Marta E Alarcón-Riquelme, marta.alarcon@genpat.uu.se Received: 22 Mar 2004 Accepted: 24 May 2004 Published: 21 Jun 2004 Arthritis Res Ther 2004, 6:169-173 (DOI 10.1186/ar1203) ? 2004 BioMed Central Ltd Abstract Recent studies investigating the genetic susceptibility of systemic lupus erythematosus, rheumatoid arthritis and psoriasis have revealed a potential role for the RUNX proteins in the development of autoimmune disease. A new pathway of disease pathogenesis opens new avenues of research with thousands of questions that remain to be answered. In this review I attempt to propose how the RUNX proteins might be involved in these diseases and review current knowledge on this very interesting trio of transcription factors that was previously only suspected to be involved in cancer. Keywords: autoimmunity, repression, runt-domain, susceptibility, transcription Introduction enhancer. Importantly, the regulator element is not conserved in the mouse (ME Alarcón-Riquelme and L The study of the genetics of complex diseases is now advancing rapidly as new genes are being discovered that are involved in susceptibility for a variety of diseases. However, more impressive is the fact that the identification Prokunina, unpublished data), suggesting that the regulation of PD-1 is different in both species. The polymorphism associated with human lupus changed a common G nucleotide to an A nucleotide, thereby disrupting a binding site for what seemed to be the RUNX1 transcription factor. The binding was tested on a simple band-shift assay (electrophoretic mobility-shift of the