title: Apical junction complex proteins and ulcerative colitis: a focus on the PTPRS gene.
abstract: Inflammatory bowel disease is a complex multifactorial disease with a strong genetic component. Recent studies have identified innate immunity (NOD2), autophagy (ATG16L1) and Th17 pathway (IL23R) genes in the pathogenesis of Crohn's disease. The pathogenesis of ulcerative colitis (UC) is less clear; however, there is growing evidence that proteins involved in the apical junction complex are involved in UC. Here we review the up-to-date studies on the genetic basis for IBD and explore the newly described UC-associated apical junction complex pointing to a primary defect in barrier defense. We will focus on the PTPRS (encoding PTPsigma) gene and discuss its and other apical junction complex proteins' role in the pathogenesis of UC.
authors.affiliation: Department of Pediatrics, Division of Gastroenterology, Hepatology & Nutrition, Program in Cell Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. aleixo.muise@sickkids.ca
authors.forename: Aleixo
authors.initials: A
authors.lastname: Muise
authors.forename: Daniela
authors.initials: D
authors.lastname: Rotin
mesh_terms: D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D003093:Colitis, Ulcerative / Q000235:genetics / Q000276:immunology / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D007113:Immunity, Innate; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics / Q000276:immunology / Q000378:metabolism*; D054623:Receptor-Like Protein Tyrosine Phosphatases, Class 2 / Q000235:genetics / Q000276:immunology / Q000378:metabolism*; D018123:Receptors, Interleukin / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D019108:Tight Junctions / Q000235:genetics / Q000276:immunology / Q000378:metabolism* / Q000648:ultrastructure
chemical_list: C518959:ATG16L1 protein, human; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins; C515500:IL23R protein, human; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D018123:Receptors, Interleukin; C516883:PTPRS protein, human; D054623:Receptor-Like Protein Tyrosine Phosphatases, Class 2