Article (Scientific journals)
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.
Vang, Torkel; Congia, Mauro; Macis, Maria Doloretta et al.
2005In Nature Genetics, 37 (12), p. 1317-9
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Keywords :
Alleles; Antibodies/pharmacology; Autoimmune Diseases/enzymology/genetics/immunology; Catalysis; Diabetes Mellitus, Type 1/enzymology/genetics/immunology; Female; Gene Frequency; Genetic Predisposition to Disease; Heterozygote; Humans; Interleukin-2/metabolism; Italy; Lymphocyte Activation; Male; Mutation; Polymorphism, Single Nucleotide; Protein Tyrosine Phosphatase, Non-Receptor Type 1; Protein Tyrosine Phosphatase, Non-Receptor Type 22; Protein Tyrosine Phosphatases/genetics; Receptors, Antigen, T-Cell/drug effects/metabolism; T-Lymphocytes/enzymology/immunology
Abstract :
[en] A SNP in the gene PTPN22 is associated with type 1 diabetes, rheumatoid arthritis, lupus, Graves thyroiditis, Addison disease and other autoimmune disorders. T cells from carriers of the predisposing allele produce less interleukin-2 upon TCR stimulation, and the encoded phosphatase has higher catalytic activity and is a more potent negative regulator of T lymphocyte activation. We conclude that the autoimmune-predisposing allele is a gain-of-function mutant.
Research center :
Program on Inflammatory Disease Research, Infectious and Inflammatory Disease Center, The Burnham Institute
Dipartimento di Scienze Biomediche e Biotecnologie, Universita` degli Studi di Cagliari
Department of Orthopaedic Surgery and Institute for Genetic Medicine, University of Southern California Keck School of Medicine
The Biotechnology Centre, University of Oslo
Disciplines :
Immunology & infectious disease
Author, co-author :
Vang, Torkel
Congia, Mauro
Macis, Maria Doloretta
Musumeci, Lucia ;  Université de Liège - ULiège > GIGA-Research
Orru, Valeria
Zavattari, Patrizia
Nika, Konstantina
Tautz, Lutz
Tasken, Kjetil
Cucca, Francesco
Mustelin, Tomas
Bottini, Nunzio
Language :
English
Title :
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.
Publication date :
2005
Journal title :
Nature Genetics
ISSN :
1061-4036
eISSN :
1546-1718
Publisher :
Nature Publishing Group, United Kingdom
Volume :
37
Issue :
12
Pages :
1317-9
Peer reviewed :
Peer Reviewed verified by ORBi
Funders :
Norwegian Cancer Society
JDRF - Juvenile Diabetes Research Foundation [CA]
Telethon-JDRF
NIH - National Institutes of Health [US-MD]
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since 06 January 2015

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