Gene and isoform expression of aminopeptidases ERAP1 and ERAP2 from RNASeq data

This goal of this study was to investigate the gene expression effect of disease associated polymorphisms in the endoplasmic reticulum aminopeptidase genes ERAP1 and ERAP2. The enzymes ERAP1 and ERAP2, encoded on chromosome 5q15, function by trimming endogenously derived peptides for human leukocyte antigen (HLA) mediated presentation to the immune system. Polymorphisms in ERAP1 and/or ERAP2 have been observed in several immune-mediated diseases with specific HLA associations, implicating altered peptide handling and presentation as a prerequisite for immune autoreactivity. Evidence for the elevated expression or altered transcriptional profile of these genes in diseases characterised by immune autoreactivity provides grounds for the development of aminiopeptidase inhibitors for the therapeutic treatment of such conditions.