Illuminating autoimmune regulators through controlled variation of the mouse genome sequence

Immunity

Volumn 20, Issue 6, 2004, Pages 669-679

  Vinuesa, Carola G ^a   Goodnow, Christopher C ^a  

^a Biology and Environment   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOIMMUNITY; DISEASE PREDISPOSITION; GENE IDENTIFICATION; GENE MAPPING; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME; HUMORAL IMMUNITY; IMMUNOREGULATION; LUPUS VULGARIS; MOUSE; MUTATION; NONHUMAN; PRIORITY JOURNAL; REVIEW; SYSTEMIC LUPUS ERYTHEMATOSUS;

ANIMALS; AUTOIMMUNITY; BREEDING; GENOME; GERM-LINE MUTATION; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MICE; SEQUENCE ANALYSIS, DNA; VARIATION (GENETICS);

EID: 2942620983     PISSN: 10747613     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.immuni.2004.05.012     Document Type: Review

References (69)

1. Aguado E., Richelme S., Nunez-Cruz S., Miazek A., Mura A.M., Richelme M., Guo X.J., Sainty D., He H.T., Malissen B., Malissen M. Induction of T helper type 2 immunity by a point mutation in the LAT adaptor. Science. 296:2002;2036-2040
2. Anderson M., Venanzi E.S., Klein L., Chen Z., Berzins S.P., Turley S.J., von Boehmer H., Bronson R., Dierich A., Benoist C., Mathis D. Projection of an immunological self shadow within the thymus by the aire protein. Science. 298:2002;1395-1401
3. Arbuckle M., McClain M.T., Rubertone M.V., Scofield R.H., Dennis G.J., James J.A., Harley J. Development of autoantibodies before the clinical onset of systemic lupus erythematosus. N. Engl. J. Med. 349:2003;1526-1533
4. Bachmaier K., Krawczyk C., Kozieradzki I., Kong Y.Y., Sasaki T., Oliveira-dos-Santos A., Mariathasan S., Bouchard D., Wakeham A., Itie A., et al. Negative regulation of lymphocyte activation and autoimmunity by the molecular adaptor Cbl-b. Nature. 403:2000;211-216
5. Beier D.R. Sequence-based analysis of mutagenized mice. Mamm. Genome. 11:2000;594-597
6. Bennett S.T., Lucassen A.M., Gough S.C., Powell E.E., Undlien D.E., Pritchard L.E., Merriman M.E., Kawaguchi Y., Dronsfield M.J., Pociot F., et al. Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nat. Genet. 9:1995;284-292
7. Bennett C.L., Christie J., Ramsdell F., Brunkow M.E., Ferguson P.J., Whitesell L., Kelly T.E., Saulsbury F.T., Chance P.F., Ochs H.D. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat. Genet. 27:2001;20-21
8. Botto M., Walport M.J. C1q, autoimmunity and apoptosis. Immunobiology. 205:2002;395-406
9. Brunkow, M., Jeffery, E.W., Hjerrild, K.A., Paeper, B., Clark, L.B., Yasayko, S.A., Wilkinson, J.E., Galas, D., Ziegler, S.F., and Ramsdell, F. (2001). Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat. Genet., 68-73.
10. Chambers C.A., Kuhns M.S., Egen J.G., Allison J.P. CTLA-4-mediated inhibition in regulation of T cell responses. mechanisms and manipulation in tumor immunotherapy Annu. Rev. Immunol. 19:2001;565-594
11. Chatila T.A., Blaeser F., Ho N., Lederman H.M., Voulgaropoulos C., Helms C., Bowcock A.M. JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. J. Clin. Invest. 106:2000;R75-R81
12. Chiang Y., Kole H.K., Brown K., Naramura M., Fukuhara S., Hu R.J., Jang I.K., Gutkind J.S., Shevach E., Gu H. Cbl-b regulates the CD28 dependence of T-cell activation. Nature. 403:2000;216-220
13. Coghill E.L., Hugill A., Parkinson N., Davison C., Glenister P., Clements S., Hunter J., Cox R.D., Brown S.D. A gene-driven approach to the identification of ENU mutants in the mouse. Nat. Genet. 30:2002;255-256
14. Corneo B., Moshous D., Gungor T., Wulffraat N., Philippet P., Le Deist F.L., Fischer A., de Villartay J.P. Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. Blood. 97:2001;2772-2776
15. Eaves I., Wicker L.S., Ghandour G., Lyons P.A., Peterson L.B., Todd J.A., Glynne R.J. Combining mouse congenic strains and microarray gene expression analyses to study a complex trait. the NOD model of type 1 diabetes Genome Res. 12:2002;232-243
16. Feldmann M., Maini R. Anti-TNF alpha therapy of rheumatoid arthritis. what have we learned? Annu. Rev. Immunol. 19:2001;163-196
17. The Finnish-German APECED Consortium Autoimmune Polyendocrinopathy- Candidiasis-Ectodermal Dystrophy. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat. Genet. 17:1997;399-403
18. Fisher G., Rosenberg F.J., Straus S.E., Dale J.K., Middleton L.A., Lin A.Y., Strober W., Lenardo M.J., Puck J.M. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell. 81:1995;935-946
19. Goldstein J., Brown M. Regulation of the mevalonate pathway. Nature. 343:1990;425-430
20. Goodnow C. Pathways for self-tolerance and the treatment of autoimmune diseases. Lancet. 357:2001;2115-2121
21. Grammer A., He L., Fischer R., Lee O., Gaffney P., Behrens T., Lipsky P. A naturally occurring mutant of CD40 (P227A) in families of patients with systemic lupus erythematosus mediates mediates spontaneous Traf association and kinase activation leading to the transcription factors NF-kB, AP-1, and Cre. Keystone Symposia. 166:2004;64
22. Greenwald R.J., Latchman Y.E., Sharpe A.H. Negative co-receptors on lymphocytes. Curr. Opin. Immunol. 14:2002;391-396
23. Hitotsumachi S., Carpenter D.A., Russell W.L. Dose-repetition increases the mutagenic effectiveness of N-ethyl-N-nitrosourea in mouse spermatogonia. Proc. Natl. Acad. Sci. USA. 82:1985;6619-6621
24. Hugot J., Chamaillard M., Zouali H., Lesage S., Cezard J.P., Belaiche J., Almer S., Tysk C., O'Morain C.A., Gassull M., et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 411:2001;599-603
25. Huttley G., Easteal S., Southey M.C., Tesoriero A., Giles G.G., McCredie M.R., Hopper J.L., Venter D. Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees. Australian Breast Cancer Family Study. Nat. Genet. 25:2000;410-413
26. Inohara N., Nunez G. Nods. intracellular proteins involved in inflammation and apoptosis Nat. Rev. Immunol. 3:2003;371-382
27. Jun J., Wilson L.E., Vinuesa C.G., Lesage S., Blery M., Miosge L.A., Cook M.C., Kucharska E.M., Hara H., Penninger J.M., et al. Identifying the MAGUK protein Carma-1 as a central regulator of humoral immune responses and atopy by genome-wide mouse mutagenesis. Immunity. 18:2003;751-762
28. Justice M., Noveroske J.K., Weber J.S., Zheng B., Bradley A. Mouse ENU mutagenesis. Hum Mol Genet. 8:1999;1955-1963
29. Justice M., Carpenter D.A., Favor J., Neuhauser-Klaus A., Hrabe de Angelis M., Soewarto D., Moser A., Cordes S., Miller D., Chapman V., et al. Effects of ENU dosage on mouse strains. Mamm. Genome. 11:2000;484-488
30. Kelly J., Moser K.L., Harley J. The genetics of systemic lupus erythematosus. putting the pieces together Genes Immun. Suppl. 3:2002;S71-S85
31. Liston A., Lesage S., Wilson J., Peltonen L., Goodnow C. Aire regulates negative selection of organ-specific T cells. Nat. Immunol. 4:2003;350-354
32. Martin A., Reichlin M. Fluctuations of antibody to ribosomal P proteins correlate with appearance and remission of nephritis in SLE. Lupus. 5:1996;22-29
33. McMurray R. Sex hormones and systemic lupus erythematosus. review and meta-analysis Arthritis Rheum. 48:2003;2100-2110
34. Meyer O., Hauptmann G., Tappeiner G., Ochs H.D., Mascart-Lemone F. Genetic deficiency of C4, C2 or C1q and lupus syndromes. Association with anti-Ro (SS-A) antibodies. Clin. Exp. Immunol. 62:1985;678-684
35. Mohan C. Murine lupus genetics. lessons learned Curr. Opin. Rheumatol. 13:2001;352-360
36. Mohan C., Morel L., Yang P., Watanabe H., Croker B., Gilkeson G., Wakeland E. Genetic dissection of lupus pathogenesis. a recipe for nephrophilic autoantibodies J. Clin. Invest. 103:1999;1685-1695
37. Morahan G., Huang D., Ymer S.I., Cancilla M.R., Stephen K., Dabadghao P., Werther G., Tait B.D., Harrison L.C., Colman P.G. Linkage disequilibrium of a type 1 diabetes susceptibility locus with a regulatory IL12B allele. Nat. Genet. 27:2001;218-221
38. Morel L., Wakeland E.K. Lessons from the NZM2410 model and related strains. Int. Rev. Immunol. 19:2000;423-446
39. Nadeau J., Balling R., Barsh G., Beier D., Brown S.D., Bucan M., Camper S., Carlson G., Copeland N., Eppig J., et al. Sequence interpretation. Functional annotation of mouse genome sequences. Science. 291:2001;1251-1255
40. Nagamine K., Peterson P., Scott H.S., Kudoh J., Minoshima S., Heino M., Krohn K.J., Lalioti M.D., Mullis P.E., Antonarakis S.E., et al. Positional cloning of the APECED gene. Nat. Genet. 17:1997;393-398
41. Nelms K., Goodnow C. Genome-wide ENU mutagenesis to reveal immune regulators. Immunity. 15:2001;409-418
42. Neuhaus I.M., Beier D.R. Efficient localization of mutations by interval haplotype analysis. Mamm. Genome. 9:1998;150-154
43. Notarangelo L., Giliani S., Mazza C., Mella P., Savoldi G., Rodriguez-Perez C., Mazzolari E., Fiorini M., Duse M., Plebani A., et al. Of genes and phenotypes. the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model Immunol. Rev. 178:2000;39-48
44. Ogura Y., Bonen D.K., Inohara N., Nicolae D.L., Chen F.F., Ramos R., Britton H., Moran T., Karaliuskas R., Duerr R.H., et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature. 411:2001;603-606
45. Okazaki T., Iwai Y., Honjo T. New regulatory co-receptors. inducible co-stimulator and PD-1 Curr. Opin. Immunol. 14:2002;779-782. a
46. Okazaki Y., Furuno M., Kasukawa T., Adachi J., Bono H., Kondo S., Nikaido I., Osato N., Saito R., Suzuki H., et al. Analysis of the mouse transcriptome based on functional annotation of 60, 770 full-length cDNAs. Nature. 420:2002;563-573. b
47. Papathanasiou P., Perkins A.C., Cobb B.S., Ferrini R., Sridharan R., Hoyne G.F., Nelms K.A., Smale S.T., Goodnow C. Widespread failure of hematolymphoid differentiation caused by a recessive niche-filling allele of the Ikaros transcription factor. Immunity. 19:2003;131-144
48. Plotz P.H. The autoantibody repertoire. searching for order Nat. Rev. Immunol. 3:2003;73-78
49. Popp R., Bailiff E.G., Skow L.C., Johnson F.M., Lewis S.E. Analysis of a mouse alpha-globin gene mutation induced by ethylnitrosurea. Genetics. 105:1983;157-167
50. Prokunina L., Castillejo-Lopez C., Oberg F., Gunnarsson I., Berg L., Magnusson V., Brookes A.J., Tentler D., Kristjansdottir H., Grondal G., et al. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat. Genet. 32:2002;666-669
51. Pugliese A., Zeller M., Fernandez A. Jr., Zalcberg L.J., Bartlett R.J., Ricordi C., Pietropaolo M., Eisenbarth G.S., Bennett S.T., Patel D.D. The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. Nat. Genet. 15:1997;293-297
52. Ravetch J.V., Lanier L.L. Immune inhibitory receptors. Science. 290:2000;84-89
53. Rozzo S., Allard J.D., Choubey D., Vyse T.J., Izui S., Peltz G., Kotzin B. Evidence for an interferon-inducible gene, Ifi202, in the susceptibility to systemic lupus. Immunity. 15:2001;435-443
54. 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. 426:2003;454-460
55. Santiago-Raber M., Lawson B., Drummer W., Barhnouse M., Koundouris S., Wilson C., Kono D., Theofilopoulos A. Role of the cyclin kinase inhibitor p21 in systemic autoimmunity. J. Immunol. 167:2001;4067-4074
56. Scofield R., Bruner G.R., Kelly J.A., Kilpatrick J., Bacino D., Nath S.K., Harley J. Thrombocytopenia identifies a severe familial phenotype of systemic lupus erythematosus and reveals genetic linkages at 1q22 and 11p13. Blood. 101:2003;992-997
57. Shultz L.D., Schweitzer P.A., Rajan T.V., Yi T., Ihle J.N., Matthews R.J., Thomas M.L., Beier D.R. Mutations at the murine motheaten locus are within the hematopoietic cell protein-tyrosine phosphatase (Hcph) gene. Cell. 73:1993;1445-1454
58. Silveira P.A., Wilson W.E., Esteban L.M., Jordan M.A., Hawke C.G., van Driel I.R., Baxter A.G. Identification of the Gasa3 and Gasa4 autoimmune gastritis susceptibility genes using congenic mice and partitioned, segregative and interaction analyses. Immunogenetics. 53:2001;741-750
59. Sommers C., Park C.S., Lee J., Feng C., Fuller C.L., Grinberg A., Hildebrand J.A., Lacana E., Menon R.K., Shores E.W., et al. A LAT mutation that inhibits T cell development yet induces lymphoproliferation. Science. 296:2002;2040-2043
60. Theofilopoulos A.N., Kono D.H. The genes of systemic autoimmunity. Proc. Assoc. Am. Physicians. 111:1999;228-240
61. Todd J., Wicker L. Genetic protection from the inflammatory disease type 1 diabetes in humans and animal models. Immunity. 15:2001;387-395
62. Toellner K.M., Luther S.A., Sze D.M., Choy R.K., Taylor D.R., MacLennan I.C., Acha-Orbea H. T helper 1 (Th1) and Th2 characteristics start to develop during T cell priming and are associated with an immediate ability to induce immunoglobulin class switching. J. Exp. Med. 187:1998;1193-1204
63. Tsui H., Siminovitch K.A., de Souza L., Tsui F.W. Motheaten and viable motheaten mice have mutations in the haematopoietic cell phosphatase gene. Nat. Genet. 4:1993;124-129
64. Ueda H., Howson J.M., Esposito L., Heward J., Snook H., Chamberlain G., Rainbow D.B., Hunter K.M., Smith A.N., Di Genova G., et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature. 423:2003;506-511
65. Vafiadis P., Bennett S.T., Todd J.A., Nadeau J., Grabs R., Goodyer C.G., Wickramasinghe S., Colle E., Polychronakos C. Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nat. Genet. 15:1997;289-292
66. Wang J., Zheng L., Lobito A., Chan F.K., Dale J., Sneller M., Yao X., Puck J.M., Straus S.E., Lenardo M.J. Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell. 98:1999;47-58
67. Watanabe-Fukunaga R., Brannan C.I., Copeland N.G., Jenkins N.A., Nagata S. Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis. Nature. 356:1992;314-317
68. Waterston R.H., Lindblad-Toh K., Birney E., Rogers J., Abril J.F., Agarwal P., Agarwala R., Ainscough R., Alexandersson M., An P., et al. Initial sequencing and comparative analysis of the mouse genome. Nature. 420:2002;520-562
69. Yokoi N., Komeda K., Wang H.Y., Yano H., Kitada K., Saitoh Y., Seino Y., Yasuda K., Serikawa T., Seino S. Cblb is a major susceptibility gene for rat type 1 diabetes mellitus. Nat. Genet. 31:2002;391-394