Human autoimmune lymphoproliferative syndrome, a defect in the apoptosis-inducing Fas receptor: A lesson from the mouse model

Journal of Human Genetics

Volumn 43, Issue 1, 1998, Pages 2-8

  Nagata, Shigekazu ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

Apoptosis; Autoimmune disease; Canale Smith syndrome; Fas; Loss of function mutation

Indexed keywords

FAS ANTIGEN; FAS LIGAND; TUMOR NECROSIS FACTOR RECEPTOR;

AMINO ACID SEQUENCE; ANIMAL CELL; APOPTOSIS; AUTOIMMUNE DISEASE; CELL DIFFERENTIATION; CELL PROLIFERATION; HUMAN; HUMAN CELL; IMMUNOREGULATION; LYMPHOPROLIFERATIVE DISEASE; MOUSE; NONHUMAN; PHENOTYPE; POINT MUTATION; RECEPTOR BINDING; REVIEW;

AMINO ACID SEQUENCE; ANIMALS; ANTIGENS, CD95; APOPTOSIS; AUTOIMMUNE DISEASES; B-LYMPHOCYTES; BASE SEQUENCE; DISEASE MODELS, ANIMAL; DNA; FAS LIGAND PROTEIN; HUMANS; LYMPHOPROLIFERATIVE DISORDERS; MEMBRANE GLYCOPROTEINS; MICE; MICE, INBRED MRL LPR; MOLECULAR SEQUENCE DATA; MUTATION; SYNDROME; T-LYMPHOCYTES;

ANIMALIA;

EID: 0031746760     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050029     Document Type: Review

References (48)

1. Adachi M, Watanabe-Fukunaga R, Nagata S (1993) Aberrant transcription caused by the insertion of an early transposable element in an intron of the Fas antigen gene of lpr mice. Proc Natl Acad Sci USA 90:1756-1760
2. Adachi M, Suematsu S, Kondo T, Ogasawara J, Tanaka T, Yoshida N, Nagata S (1995) Targeted mutation in the Fas gene causes hyperplasia in the peripheral lymphoid organs and liver. Nature Genet 11:294-300
3. Allen RD, Marshall JD, Roths JB, Sidman CL (1990) Differences defined by bone marrow transplantation suggest that lpr and gld are mutations of genes encoding an interacting pair of molecules. J Exp Med 172:1367-1375
4. Alnemri ES, Livingston DJ, Nicholson DW, Salvesen G, Thornberry NA, Wong WW, Yuan J (1996) Human ICE/CED-3 protease nomenclature. Cell 87:171
5. Banner DW, D'Arcy A, Janes W, Gentz R, Schoenfeld H-J, Broger C, Loetscher H, Lesslauer W (1993) Crystal structure of the soluble human 55 kd TNF receptor-human TNFβ complex: implication for TNF receptor activation. Cell 73:431-445
6. Bettinardi A, Brugnoni D, Quiròs-Roldan E, Malagoli A, La Grutta S, Correra A, Notarangelo LD (1997) Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. Blood 89:902-909
7. Black RA, Rauch CT, Kozlosky CJ, Peschon JJ, Slack JL, Wolfson MF, Castner BJ, Stocking KL, Reddy P, Srinivasan S, Nelson N, Boiani N, Schooley KA, Gerhart M, Davis R, Fitzner JN, Johnson RS, Paxton RJ, March CJ, Cerretti DP (1997) A metalloproteinase disintegrin that releases tumour-necrosis factor-α from cells. Nature 385:729-733
8. Boldin MP, Varfolomeev EE, Pancer Z, Mett IL, Camonis JH, Wallach D (1995) A novel protein that interacts with the death domain of Fas/APO1 contains a sequence motif related to the death domain. J Biol Chem 270:7795-7798
9. Boldin MP, Goncharov TM, Goltsev YV, Wallach D (1996) Involvement of MACH, a novel MORT1/FADD-interacting protease, in Fas/APO-1- and TNF receptor-induced cell death. Cell 85:803-815
10. Brunner T, Mogil RJ, LaFace D, Yoo NJ, Mahboubi A, Echeverri F, Martin SJ, Force WR, Lynch DH, Ware CF, Green DR (1995) Cell-autonomous Fas (CD95)/Fas-ligand interaction mediates activation-induced apoptosis in T-cell hybridomas. Nature 373:441-444
11. Canale V, Smith C (1967) Chronic lymphadenopathy simulating malignant lymphoma. J Pediatr 70:891-899
12. Castro JE, Listman JA, Jacobson BA, Wang Y, Lopez PA, Ju S, Finn PW, Perkins DL (1996) Fas modulation of apoptosis during negative selection of thymocytes. Immunity 5:617-627
13. Chinnaiyan AM, Tepper CG, Seldin MF, O'Rourke K, Kischkel FC, Hellbardt S, Krammer PH, Peter ME, Dixit VM (1996) FADD/ MORT1 is a common mediator of CD95(Fas/APO-1) and tumor necrosis factor-induced apoptosis. J Biol Chem 271:4961-4965
14. Cohen PL, Eisenberg RA (1991) Lpr and gld: single gene models of systemic autoimmunity and Iymphoproliferative disease Annu Rev Immunol 9:243-269
15. Dhein J, Walczak H, Baumler C, Debatin K-M, Krammer PH (1995) Autocrine T-cell suicide mediated by APO-1/(Fas/CD95). Nature 373:438-441
16. Drappa J, Vaishnaw AK, Sullivan KE, Chu JL, Elkon KB (1996) Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. N Engl J Med 335:1643-1649
17. Enari M, Talanian RV, Wong WW, Nagata S (1996) Sequential activation of ICE-like and CPP32-like proteases during Fas-mediated apoptosis. Nature 380:723-726
18. Enari M, Sakahira H, Yokoyama H, Okawa K, Iwamatsu A, Nagata S (1998) A caspase-activated DNase that degrades DNA during apoptosis and its inhibitor ICAD. Nature 391:43-50
19. Fisher GH, Rosenberg FJ, Straus SE, Dale JK, Middelton LA, Lin AY, Strober W, Lenardo MJ, Puck JM (1995) Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 81:935-946
20. In S, Dueymes M, Appolinaire-Pilipenko S, Sournies F, Labarre JF, Fournine GJ (1990) Treatment of end-stage MRL-lpr/lpr mouse lupus disease by a cyclophosphazene-derived drug and by cyclosporin A. J Clin Lab Immunol 32:85-90
21. Itoh N, Nagata S (1993) A novel protein domain required for apoptosis: mutational analysis of human Fas antigen. J Biol Chem 268:10932-10937
22. Itoh N, Yonehara S, Ishii A, Yonehara M, Mizushima S, Sameshima M, Hase A, Seto Y, Nagata S (1991) The polypeptide encoded by the cDNA for human cell surface antigen Fas can mediate apoptosis. Cell 66:233-243
23. Ju S-T, Panka DJ, Cui H, Ettinger R, El-Khatib M, Sherr DH, Stanger BZ, Marshak-Rothstein A (1995) Fas (CD95)/FasL interaction required for programmed cell death after T-cell activation. Nature 373:444-448
24. Kasahara Y, Wada T, Niida Y, Yachie A, Seki H, Ishida Y, Sakai T, Koizumi F, Koizumi S, Miyawaki T, Taniguchi N (1998) Novel Fas (CD95/APO-1) mutation in infants with lymphoproliferative disorders. Int Immunol, in press
25. Kischkel FC, Hellbardt S, Behrmann I, Germer M, Pawlita M, Krammer PH, Peter ME (1995) Cytotoxicity-dependent APO-1 (Fas/CD95)-associated proteins from a death-inducing signaling complex (DISC) with the receptor. EMBO J 14:5579-5588
26. Le Deist F, Emile JF, Rieux-Laucat F, Benkerrou M, Roberts I, Brousse N, Fischer A (1996) Clinical, immunological, and pathological consequences of Fas-deficient conditions. Lancet 348:719-723
27. Martin S, Green D (1995) Protease activation during apoptosis: Death by a thousand cuts. Cell 82:349-352
28. cg, that complements the gld gene in induction of lymphadenopathy in the mouse. J Exp Med 171:519-531
29. Moss ML, Jin S-LC, Milla ME, Burkhart W, Carter HL, Chen W-J, Clay WC, Didsbury JR, Hassler D, Hoffman CR, Kost TA, Lambert MH, Leesnitzer MA, McCauley P, McGeehan G, Mitchell J, Moyer M, Pahel G, Rocque W, Overton LK, Schoenen F, Seaton T, Su J-L, Warner J, Willard D, Becherer JD (1997) Cloning of a disintegrin metalloproteinase that processes precursor tumor necrosis factor a. Nature 385:733-736
30. Muzio M, Chinnaiyan AM, Kischkel FC, O'Rourke K, Shevchenko A, Ni J, Scaffidi C, Bretz JD, Zhang M, Gentz R, Mann M, Krammer PH, Peter ME, Dixit VM (1996) FLICE, a novel FADD-homologous ICE/CED-3-like protease, is recruited to the CD95 (Fas/APO-1) death-inducing signaling complex. Cell 85:817-827
31. Nagata S, Golstein P (1995) The Fas death factor. Science 267:1449-1456
32. Nagata S (1997) Apoptosis by death factor. Cell 88:355-365
33. Rieux-Laucat F, Le Deist F, Hivroz C, Roberts IAG, Denatin KM, Fischer A, de Villarty JP (1995) Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 268:1347-1349
34. Rothstein TL, Wang JKM, Panka DJ, Foote LC, Wang Z, Stanger B, Cui H, Ju S-T, Marshak-Rothstein A (1995) Protection against Fas-dependent Th1-mediated apoptosis by antigen receptor engagement in B cells. Nature 374:163-165
35. Russell JH, Rush B, Weaver C, Wang R (1993) Mature T cells of autoimmune lpr/lpr mice have a defect in antigen-stimulated suicide. Proc Natl Acad Sci USA 90:4409-4413
36. Sakahira H, Enari M, Nagata S (1998) Cleavage of CAD inhibitor in CAD activation and DNA degradation during apoptosis. Nature 391:96-99
37. Singer GG, Abbas AK (1994) The Fas antigen is involved in peripheral but not thymic deletion of T lymphocytes in T cell receptor transgenic mice. Immunity 1:365-371
38. Smathers PA, Santoro TJ, Chused TM, Reeves JP, Steinberg AD (1984) Studies of lymphoproliferation in MRL-lpr/lpr mice. J Immunol 133:1955-1961
39. Sneller MC, Wang J, Dale JK, Strober W, Middelton LA, Choi Y, Fleisher TA, Lim MS, Jaffe ES, Puck JM, Lenardo MJ, Straus SE (1997) Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood 89:1341-1348
40. Takahashi T, Tanaka M, Brannan CT, Jenkins NA, Copeland NG, Suda T, Nagata S (1994) Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand. Cell 76:969-976
41. Tanaka M, Suda T, Haze K, Nakamura N, Sato K, Kimura F, Motoyoshi K, Mizuki M, Tagawa S, Ohga S, Hatake K, Drummond AH, Nagata S (1996) Fas ligand in human serum. Nature Med 2: 317-322
42. Tartaglia LA, Ayres TM, Wong GHW, Goeddel DV (1993) A novel domain within the 55 kd TNF receptor signals cell death. Cell 74: 845-853
43. Theofilopoulos AN, Balderas RS, Gozes Y, Aguado MT, Hang L, Morrow PR, Dixon FJ (1985) Association of lpr gene with graft-vs,-host disease-like syndrome. J Exp Med 162:1-18
44. Thornberry NA, Rano TA, Peterson EP, Rasper DM, Timkey T, Garcia-Calvo M, Houtzager VM, Nordstrom PA, Roy S, Vaillancourt JP, Chapman KT, Nicholson DW (1997) A combinatorial approach defines specificities of members of the caspase family and granzyme B J Biol Chem 272:17907-17911
45. Trauth BC, Klas C, Peters AMJ, Matzuku S, Möller P, Falk W, Debatin K-M, Krammer PH (1989) Monoclonal antibody-mediated tumor regression by induction of apoptosis. Science 245:301-305
46. Vandenabeele P, Declercq W, Beyaert R, Fiers W (1995) Two tumor necrosis factor receptors: structure and function. Trends Cell Biol 5: 392-399
47. Watanabe-Fukunaga R, Brannan CI, Copeland NG, Jenkins NA, Nagata S (1992) Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis. Nature 356.314-317
48. Yonehara S, Ishii A, Yonehara M (1989) A cell-killing monoclonal antibody (anti-Fas) to a cell surface antigen co-downregulated with the receptor of tumor necrosis factor. J Exp Med 169:1747-1756