Protein tyrosine phosphatase PTPN22 in human autoimmunity

References

• Gottlieb PA, Eisenbarth GS. In the molecular pathology of autoimmune diseases2nd ed., A Theophilopoulos, CA Bona. Taylor & Francis, New York 2002; 588
   Google Scholar
• Hirschhorn JN. Genetic epidemiology of type 1 diabetes. Pediatr Diabetes 2003; 4: 87–100
   PubMedGoogle Scholar
• Maier LM, Wicker LS. Genetic susceptibility to type 1 diabetes. Curr Opin Immunol 2005; 17: 601–608
   PubMed Web of Science ®Google Scholar
• Roep BO. The role of T-cells in the pathogenesis of type 1 diabetes: From cause to cure. Diabetologia 2003; 46: 305–321
   PubMed Web of Science ®Google Scholar
• Mustelin T, Altman A. TCR signaling pathways and their relevance to autoimmunity. The molecular pathology of autoimmune diseases2nd ed., A Theophilopoulos, CA Bona. Taylor & Francis, New York, NY 2002; 127–141
   Google Scholar
• Mustelin T. Keeping the T cell immune response in balance; role of protein tyrosine phosphatases in autoimmunity. Current directions on autoimmunity, A Altman. Karger Press. 2002; Vol. 5: 176–190
   Google Scholar
• Nel AE, Slaughter N. T-cell activation through the antigen receptor. Part 2: Role of signaling cascades in T-cell differentiation, anergy, immune senescence, and development of immunotherapy. J Allergy Clin Immunol 2002; 109: 901–915
   PubMedGoogle Scholar
• Buchs AE, Rapoport MJ. T cell signaling and autoimmune diabetes. J Pediatr Endocrinol Metab 2000; 13: 1549–1554
   PubMedGoogle Scholar
• Rapoport MJ, Jaramillo A, Zipris D, Lazarus AH, Serreze DV, Leiter EH, Cyopick P, Danska JS, Delovitch TL. Interleukin 4 reverses T cell proliferative unresponsiveness and prevents the onset of diabetes in nonobese diabetic mice. J Exp Med 1993; 178: 87–99
   PubMed Web of Science ®Google Scholar
• Rapoport MJ, Lazarus AH, Jaramillo A, Speck E, Delovitch TL. Thymic T cell anergy in autoimmune nonobese diabetic mice is mediated by deficient T cell receptor regulation of the pathway of p21ras activation. J Exp Med 1993; 177: 1221–1226
   PubMed Web of Science ®Google Scholar
• Salojin K, Zhang J, Cameron M, Gill B, Arreaza G, Ochi A, Delovitch TL. Impaired plasma membrane targeting of Grb2-murine son of sevenless (mSOS) complex and differential activation of the Fyn-T cell receptor (TCR)-zeta-Cbl pathway mediate T cell hyporesponsiveness in autoimmune nonobese diabetic mice. J Exp Med 1997; 186: 887–897
   PubMedGoogle Scholar
• De Maria R, Todaro M, Stassi G, Di Blasi F, Giordano M, Galluzzo A, Giordano C. Defective T cell receptor/CD3 complex signaling in human type 1 diabetes. Eur J Immunol 1994; 24: 999–1002
   PubMed Web of Science ®Google Scholar
• Nervi S, Atlan-Gepner C, Fossat C, Vialettes B. Constitutive impaired TCR/CD3-mediated activation of T cells in IDDM patients co-exist with normal co-stimulation pathways. J Autoimmun 1999; 13: 247–255
   PubMedGoogle Scholar
• Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KM, Smith AN, Di Genova G, Herr MH, Dahlman I, Payne F, Smyth D, Lowe C, Twells RC, Howlett S, Healy B, Nutland S, Rance HE, Everett V, Smink LJ, Lam AC, Cordell HJ, Walker NM, Bordin C, Hulme J, Motzo C, Cucca F, Hess JF, Metzker ML, Rogers J, Gregory S, Allahabadia A, Nithiyananthan R, Tuomilehto-Wolf E, Tuomilehto J, Bingley P, Gillespie KM, Undlien DE, Ronningen KS, Guja C, Ionescu-Tirgoviste C, Savage DA, Maxwell AP, Carson DJ, Patterson CC, Franklyn JA, Clayton DG, Peterson LB, Wicker LS, Todd JA, Gough SC. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003; 423: 506–511
   PubMed Web of Science ®Google Scholar
• Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, MacMurray J, Pellecchia M, Eisenbarth GS, Comings D, Mustelin T. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004; 36: 337–338
   PubMed Web of Science ®Google Scholar
• Smyth D, Cooper JD, Collins JE, Heward JM, Franklyn JA, Howson JMM, Vella A, Nutland S, Rance HE, Maier L, Barratt BJ, Guja C, Ionescu-Tîrgovite C, Savage DA, Dunger DB, Widmer B, Strachan DP, Ring SM, Walker N, Clayton DG, Twells RCJ, Gough SCL, Todd JA. Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes 2004; 53: 3020–3023
   PubMed Web of Science ®Google Scholar
• Ladner MB, Bottini N, Valdes AM, Noble JA. Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes. Hum Immunol 2005; 66: 60–64
   PubMed Web of Science ®Google Scholar
• Qu H, Tessier MC, Hudson TJ, Polychronakos C. Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study. J Med Genet 2005; 42: 266–270
   PubMed Web of Science ®Google Scholar
• Zheng W, She JX. Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes. Diabetes 2005; 54: 906–908
   PubMedGoogle Scholar
• Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SY, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, Gregersen PK. A Missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 2004; 75: 330–337
   PubMed Web of Science ®Google Scholar
• van Oene M, Wintle RF, Liu X, Yazdanpanah M, Gu X, Newman B, Kwan A, Johnson B, Owen J, Greer W, Mosher D, Maksymowych W, Keystone E, Rubin LA, Amos CI, Siminovitch KA. Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations. Arthritis Rheum 2005; 52: 1993–1998
   PubMedGoogle Scholar
• Hinks A, Barton A, John S, Bruce I, Hawkins C, Griffiths CE, Donn R, Thomson W, Silman A, Worthington J. Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: Further support that PTPN22 is an autoimmunity gene. Arthritis Rheum 2005; 52: 1694–1699
   PubMed Web of Science ®Google Scholar
• Simkins HM, Merriman ME, Highton J, Chapman PT, O'Donnell JL, Jones PB, Gow PJ, McLean L, Pokorny V, Harrison AA, Merriman TR. Association of the PTPN22 locus with rheumatoid arthritis in a New Zealand Caucasian cohort. Arthritis Rheum 2005; 52: 2222–2225
   PubMed Web of Science ®Google Scholar
• Lee AT, Li W, Liew A, Bombardier C, Weisman M, Massarotti EM, Kent J, Wolfe F, Begovich AB, Gregersen PK. The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent manner but not with HLA-SE status. Genes Immun 2005; 6: 129–133
   PubMed Web of Science ®Google Scholar
• Orozco G, Sanchez E, Gonzalez-Gay MA, Lopez-Nevot MA, Torres B, Caliz R, Ortego-Centeno N, Jimenez-Alonso J, Pascual-Salcedo D, Balsa A, de Pablo R, Nunez-Roldan A, Gonzalez-Escribano MF, Martin J. Association of a functional singlenucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum 2005; 52: 219–224
   PubMed Web of Science ®Google Scholar
• Gregersen PK, Batliwalla F. PTPN22 and rheumatoid arthritis: Gratifying replication. Arthritis Rheum 2005; 52: 1952–1955
   PubMedGoogle Scholar
• Viken MK, Amundsen SS, Kvien TK, Boberg KM, Gilboe IM, Lilleby V, Sollid LM, Forre OT, Thorsby E, Smerdel A, Lie BA. Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. Genes Immun 2005; 6: 271–273
   PubMed Web of Science ®Google Scholar
• Hinks A, Barton A, John S, Bruce I, Hawkins C, Griffiths CE, Donn R, Thomson W, Silman A, Worthington J. Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: Further support that PTPN22 is an autoimmunity gene. Arthritis Rheum 2005; 52: 1694–1699
   PubMed Web of Science ®Google Scholar
• Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VEH, Chang M, Ramos P, Baechler EC, Batliwalla FM, Novitzke J, Williams AH, Gillett C, Rodine P, Graham RR, Ardlie KG, Gaffney PM, Moser KL, Petri M, Begovich AB, Gregersen PK, Behrens TW. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 2004; 75: 504–507
   PubMed Web of Science ®Google Scholar
• Wu H, Cantor RM, Graham DS, Lingren CM, Farwell L, Jager PL, Bottini N, Grossman JM, Wallace DJ, Hahn BH, Julkunen H, Hebert LA, Rovin BH, Birmingham DJ, Rioux JD, Yu CY, Kere J, Vyse TJ, Tsao BP. Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: Increased t allele frequency in systemic lupus erythematosus patients with autoimmune thyroid disease. Arthritis Rheum 2005; 52: 2396–2402
   PubMedGoogle Scholar
• Reddy MV, Johansson M, Sturfelt G, Jonsen A, Gunnarsson I, Svenungsson E, Rantapaa-Dahlqvist S, Alarcon-Riquelme ME. The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1. Genes Immun 2005; 6: 658–662
   PubMedGoogle Scholar
• Behrens TW, Graham RR, Kyogoku C, Baechler EC, Ramos PS, Gillett C, Bauer J, Ortmann WA, Hippen KL, Peterson E, Langefeld CD, Moser KL, Gaffney PM, Gregersen PK. Progress towards understanding the genetic pathogenesis of systemic lupus erythematosus. Novartis Found Symp 2005; 267: 145–160
   PubMedGoogle Scholar
• Velaga MR, Wilson V, Jennings CE, Owen CJ, Herington S, Donaldson PT, Ball SG, James RA, Quinton R, Perros P, Pearce SH. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 2004; 89: 5862–5865
   PubMed Web of Science ®Google Scholar
• Skorka A, Bednarczuk T, Bar-Andziak E, Nauman J, Ploski R. Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves' disease in a polish population: Association and gene dose-dependent correlation with age of onset. Clin Endocrinol (Oxf) 2005; 62: 679–682
   PubMed Web of Science ®Google Scholar
• Canton I, Akhtar S, Gavalas NG, Gawkrodger DJ, Blomhoff A, Watson PF, Weetman AP, Kemp EH. A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo. Genes Immun 2005; 6: 584–587
   PubMed Web of Science ®Google Scholar
• Begovich AB, Caillier SJ, Alexander HC, Penko JM, Hauser SL, Barcellos LF, Oksenberg JR. The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. Am J Hum Genet 2005; 76: 184–187
   PubMedGoogle Scholar
• Carlton VE, Hu X, Chokkalingam AP, Schrodi SJ, Brandon R, Alexander HC, Chang M, Catanese JJ, Leong DU, Ardlie KG, Kastner DL, Seldin MF, Criswell LA, Gregersen PK, Beasley E, Thomson G, Amos CI, Begovich AB. PTPN22 genetic variation: Evidence for multiple variants associated with rheumatoid arthritis. Am J Hum Genet 2005; 77: 567–581
   PubMed Web of Science ®Google Scholar
• Huffmeier U, Steffens M, Burkhardt H, Lascorz J, Schurmeier-Horst F, Stander M, Kelsch R, Baumann C, Kuster W, Mossner R, Reich K, Wienker TF, Traupe H, Reis A. Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients. J Med Genet 2005, [Epub ahead of print]
   Google Scholar
• Concannon P, Erlich HA, Julier C, Morahan G, Nerup J, Pociot F, Todd JA, Rich SS. Type 1 diabetes genetics consortium. Type 1 diabetes: Evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families. Diabetes 2005; 54: 2995–3001
   PubMed Web of Science ®Google Scholar
• Plenge RM, Padyukov L, Remmers EF, Purcell S, Lee AT, Karlson EW, Wolfe F, Kastner DL, Alfredsson L, Altshuler D, Gregersen PK, Klareskog L, Rioux JD. Replication of putative candidate-gene associations with rheumatoid arthritis in>4,000 samples from North America and Sweden: Association of susceptibility with PTPN22, CTLA4, and PADI4. Am J Hum Genet 2005; 77: 1044–1060
   PubMed Web of Science ®Google Scholar
• Cohen S, Dadi H, Shaoul E, Sharfe N, Roifman CM. Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. Blood 1999; 93: 2013–2024
   PubMed Web of Science ®Google Scholar
• Matthews RJ, Bowne DB, Flores E, Thomas ML. Characterization of hematopoietic intracellular protein tyrosine phosphatases: Description of a phosphatase containing an SH2 domain and another enriched in proline-, glutamic acid-, serine-, and threonine-rich sequences. Mol Cell Biol 1992; 12: 2396–2405
   PubMed Web of Science ®Google Scholar
• Cloutier JF, Veillette A. Association of inhibitory tyrosine protein kinase p50csk with protein tyrosine phosphatase PEP in T cells and other hemopoietic cells. EMBO J 1996; 15: 4909–4918
   PubMed Web of Science ®Google Scholar
• Gregorieff A, Cloutier JF, Veillette A. Sequence requirements for association of protein-tyrosine phosphatase PEP with the Src homology 3 domain of inhibitory tyrosine protein kinase p50(Csk). J Biol Chem 1998; 273: 13217–13222
   PubMedGoogle Scholar
• Nada S, Okada M, MacAuley A, Cooper JA, Nakagawa H. Cloning of a complementary DNA for a protein-tyrosine kinase that specifically phosphorylates a negative regulatory site of p60c-src. Nature 1991; 351: 69–72
   PubMed Web of Science ®Google Scholar
• Bergman M, Mustelin T, Oetken C, Partanen J, Flint NA, Amrein KE, Autero M, Burn P, Alitalo K. The human p50csk tyrosine kinase phosphorylates p56lck at Tyr-505 and down-regulates its catalytic activity. EMBO J 1992; 11: 2919–2924
   PubMed Web of Science ®Google Scholar
• Chow LML, Fournel M, Davidson D, Veillette A. Negative regulation of T-cell receptor signalling by the tyrosine kinase p50csk. Nature 1993; 365: 156–160
   PubMed Web of Science ®Google Scholar
• Gjörloff-Wingren A, Saxena M, Williams S, Hammi D, Mustelin T. Characterization of TCR-induced receptor-proximal signaling events negatively regulated by the protein tyrosine phosphatase PEP. Eur J Immunol 1999; 29: 3845–3854
   PubMed Web of Science ®Google Scholar
• Cloutier JF, Veillette A. Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphatase. J Exp Med 1999; 189: 111–121
   PubMed Web of Science ®Google Scholar
• Ghose R, Shekhtman A, Goger MJ, Ji H, Cowburn D. A novel, specific interaction involving the Csk SH3 domain and its natural ligand. Nat Struct Biol 2001; 8: 998–1004
   PubMedGoogle Scholar
• Hill RJ, Zozulya S, Lu YL, Ward K, Gishizky M, Jallal B. The lymphoid protein tyrosine phosphatase Lyp interacts with the adaptor molecule Grb2 and functions as a negative regulator of T-cell activation. Exp Hematol 2002; 30: 237–244
   PubMed Web of Science ®Google Scholar
• Spencer S, Dowbenko D, Cheng J, Li W, Brush J, Utzig S, Simanis V, Lasky LA. PSTPIP: A tyrosine phosphorylated cleavage furrow-associated protein that is a substrate for a PEST tyrosine phosphatase. J Cell Biol 1997; 138: 845–860
   PubMedGoogle Scholar
• Wu Y, Dowbenko D, Lasky LA. PSTPIP 2, a second tyrosine phosphorylated, cytoskeletal-associated protein that binds a PEST-type protein-tyrosine phosphatase. J Biol Chem 1998; 273: 30487–30496
   PubMedGoogle Scholar
• Cote JF, Chung PL, Theberge JF, Halle M, Spencer S, Lasky LA, Tremblay ML. PSTPIP is a substrate of PTP-PEST and serves as a scaffold guiding PTP-PEST toward a specific dephosphorylation of WASP. J Biol Chem 2002; 277: 2973–2986
   PubMedGoogle Scholar
• Wu J, Katrekar K, Honigberg LA, Smith AM, Conn MT, Tang J, Jeffrey D, Mortara K, Sampang J, Williams SR, Buggy J, Clark JM. Identification of substrates of human protein tyrosine phosphatase PTPN22. J Biol Chem 2006; 281: 11002–11010
   PubMed Web of Science ®Google Scholar
• Davidson D, Bakinowski M, Thomas ML, Horejsi V, Veillette A. Phosphorylationdependent regulation of T-cell activation by PAG/Cbp, a lipid raft-associated transmembrane adaptor. Mol Cell Biol 2003; 23: 2017–2028
   PubMed Web of Science ®Google Scholar
• Xu S, Huo J, Tan JE, Lam KP. Cbp deficiency alters Csk localization in lipid rafts but does not affect T-cell development. Mol Cell Biol 2005; 25: 8486–8495
   PubMedGoogle Scholar
• Dobenecker MW, Schmedt C, Okada M, Tarakhovsky A. The ubiquitously expressed Csk adaptor protein Cbp is dispensable for embryogenesis and T-cell development and function. Mol Cell Biol 2005; 25: 10533–10542
   PubMedGoogle Scholar
• Hasegawa K, Martin F, Huang G, Tumas D, Diehl L, Chan AC. PEST domainenriched tyrosine phosphatase (PEP) regulation of effector/memory T cells. Science 2004; 303: 685–689
   PubMed Web of Science ®Google Scholar
• Vang T, Congia M, Macis MD, Musumeci L, Orru V, Zavattari P, Nika K, Tautz L, Taskén K, Cucca F, Mustelin T, Bottini N. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005; 37: 1317–1319
   PubMed Web of Science ®Google Scholar
• Burkhardt H, Huffmeier U, Spriewald B, Bohm B, Rau R, Kallert S, Engstrom A, Holmdahl R, Reis A. Association between protein tyrosine phosphatase 22 variant R620W in conjunction with the HLA-DRB1 shared epitope and humoral autoimmunity to an immunodominant epitope of cartilage-specific type II collagen in early rheumatoid arthritis. Arthritis Rheum 2006; 54: 82–89
   PubMedGoogle Scholar
• Sakaguchi N, Takahashi T, Hata H, Nomura T, Tagami T, Yamazaki S, Sakihama T, Matsutani T, Negishi I, Nakatsuru S, Sakaguchi S. Altered thymic T-cell selection due to a mutation of the ZAP-70 gene causes autoimmune arthritis in mice. Nature 2003; 426: 454–460
   PubMed Web of Science ®Google Scholar
• Gomes LM, Anaya JM, Martin J. Genetic influence of PTPN22 R620W polymorphism in tuberculosis. Hum Immunol 2005; 66: 1242–1247
   PubMedGoogle Scholar
• Chapman SJ, Khor CC, Vannberg FO, Maskell NA, Davies CW, Hedley EL, Segal S, Moore CE, Knox K, Day NP, Gillespie SH, Crook DW, Davies RJ, Hill AV. PTPN22 and invasive bacterial disease. Nat Genet 2006; 38: 499–500
   PubMed Web of Science ®Google Scholar
• Mustelin T. Are other protein tyrosine phosphatases than PTPN22 associated with autoimmunity?. Sem Immunol 2006; 18: 254–260
   PubMedGoogle Scholar
• Mustelin T, Vang T, Bottini N. Protein tyrosine phosphatases and the immune response. Nat Rev Immunol 2005; 5: 43–57
   PubMed Web of Science ®Google Scholar