A switch-variant model integrates the functions of an autoimmune variant of the phosphatase PTPN22

Sci Signal. 2018 Apr 17;11(526):eaat0936. doi: 10.1126/scisignal.aat0936.

Abstract

The R620W polymorphism in protein tyrosine phosphatase nonreceptor type 22 (PTPN22) predisposes carriers to several autoimmune diseases. Two papers in Science Immunology and Science Signaling on this human disease-associated variant lead us to propose a new "switch-of-function" model.

Publication types

  • Review

MeSH terms

  • Animals
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / immunology*
  • Autoimmune Diseases / metabolism
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Mice, Transgenic
  • Models, Genetic*
  • Models, Immunological*
  • Mutation, Missense / immunology*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / immunology*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / metabolism
  • Signal Transduction / genetics
  • Signal Transduction / immunology*

Substances

  • Protein Tyrosine Phosphatase, Non-Receptor Type 22