A Natural Mutation in the Tyk2 Pseudokinase Domain Underlies Altered Susceptibility of B10.Q/J Mice to Infection and Autoimmunity

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 100; no. 20; pp. 11594 - 11599
• Main Authors: Shaw, Michael H., Boyartchuk, Victor, Wong, Sandy, Karaghiosoff, Marina, Ragimbeau, Josiane, Pellegrini, Sandra, Muller, Mathias, Dietrich, William F., Yap, George S.
• Format: Journal Article
• Language: English
• Published: United States National Academy of Sciences 30.09.2003; National Acad Sciences
• Subjects: Animals; Autoimmune diseases; Autoimmunity - genetics; Biological Sciences; Cell lines; Gene Expression Regulation, Enzymologic; Genes; Genetic Complementation Test; Genetic loci; Genetic mutation; Genetic Predisposition to Disease; Human genetics; Immunology; Infection - genetics; Infections; Lymphocytes; Medical genetics; Mice; Mice, Inbred BALB C; Mutagenesis; Mutation; Parasites; Phenotypes; Point Mutation; Protein-Tyrosine Kinases; Proteins - genetics; Proteins - immunology; Rodents; T lymphocytes; TYK2 Kinase

The B10.Q/J strain of mice was serendipitously discovered to be highly susceptible to infection by the intracellular protozoan parasite, Toxoplasma gondii but markedly resistant to induction of autoimmune arthritis. We have previously shown that the B10.Q/J phenotype is controlled by a single recess...