Gilad Barshad

1Departments of Pediatrics and Internal Medicine/Rheumatology, University of Washington School of Medicine, Seattle, WA, USA 2Department of Pediatrics, University at Buffalo Jacobs School of Medicine School Medicine & Biomedical Sciences, Buffalo, NY, USA 4Baker Institute of Veterinary Medicine, Cornell University, Ithaca, NY, USA 5Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Medical Center, Cincinnati, OH, USA 6Genes and Human Disease Research Program, Oklahoma Medical...

Abstract Promoter-proximal pausing of RNA polymerase (Pol) II is a key regulatory step during transcription. Despite the central role of pausing in gene regulation, we do not understand the evolutionary processes that led to the emergence of Pol II pausing or its transition to a rate-limiting step actively controlled by transcription factors. Here, we analyzed transcription in species across the tree of life.

Abstract Introduction: GWAS have identified multiple regions that confer risk for juvenile idiopathic arthritis (JIA). However, identifying the single nucleotide polymorphisms (SNPs) that drive disease risk is impeded by the SNPs that identify risk loci being in linkage disequilibrium (LD) with hundreds of other SNPs. Since the causal SNPs remain unknown, it is difficult to identify target genes and use genetic information to inform patient care.