Protein tyrosine phosphatase PTPN22 in human autoimmunity.
The discovery that a single-nucleotide polymorphism (SNP) in lymphoid tyrosine phosphatase (LYP), encoded by the PTPN22 gene, is associated with type 1 diabetes (T1D) has now been verified by numerous studies and has been expanded to rheumatoid arthritis, juvenile rheumatoid arthritis (JRA), systemic lupus erythematosus, Graves' disease, generalized vitiligo and other human autoimmune diseases. In this paper, we discuss the association of PTPN22 with autoimmunity, the biochemistry of the PTPN22-encoded phosphatase, and the molecular mechanism(s) by which the disease-predisposing allele contributes to the development of human disease.
Vang
Torkel
T
The Burnham Institute for Medical Research, La Jolla, CA 92037, USA.
Miletic
Ana V
AV
Bottini
Nunzio
N
Mustelin
Tomas
T
D000483:Alleles; D001327:Autoimmune Diseases / Q000201:enzymology / Q000235:genetics* / Q000276:immunology; D015551:Autoimmunity; D020022:Genetic Predisposition to Disease; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D011948:Receptors, Antigen, T-Cell / Q000235:genetics / Q000276:immunology / Q000378:metabolism*
D011948:Receptors, Antigen, T-Cell; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22