The proapoptotic function of SAP provides a clue to the clinical picture of X-linked lymphoproliferative disease

Proceedings of the National Academy of Sciences of the United States of America

Volumn 106, Issue 29, 2009, Pages 11966-11971

  Nagy, Noémi ^a   Matskova, Liudmila ^a   Kis, Loránd L ^a   Hellman, Ulf ^b   Klein, George ^a   Klein, Eva ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b UPPSALA UNIVERSITY   (Sweden)

Author keywords

Activation induced cell death; Apoptosis; Lymphomas; p53

Indexed keywords

SIGNALING LYMPHOCYTE ACTIVATION MOLECULE ASSOCIATED PROTEIN;

ACUTE LYMPHOCYTIC LEUKEMIA; APOPTOSIS; ARTICLE; B LYMPHOCYTE; CELL LINE; CONTROLLED STUDY; DNA DAMAGE; HUMAN; HUMAN CELL; LEUKEMIA CELL LINE; LYMPHOBLASTOID CELL LINE; LYMPHOPROLIFERATIVE DISEASE; OSTEOSARCOMA CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; T LYMPHOCYTE; X CHROMOSOME LINKED DISORDER;

ADENOSINE TRIPHOSPHATASES; APOPTOSIS; BCL-X PROTEIN; BIOLOGICAL MARKERS; CELL CYCLE PROTEINS; CELL LINE, TUMOR; CELL MEMBRANE; CELL PROLIFERATION; CLONE CELLS; DNA DAMAGE; G2 PHASE; GAMMA RAYS; GENES, X-LINKED; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LYMPHOCYTE ACTIVATION; LYMPHOPROLIFERATIVE DISORDERS; MITOSIS; PHYTOHEMAGGLUTININS; PROTEIN BINDING; RETROVIRIDAE; T-LYMPHOCYTES; TRANSDUCTION, GENETIC; UP-REGULATION;

HUMAN HERPESVIRUS 4;

EID: 67749096266     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0905691106     Document Type: Article

References (32)

1. Purtilo DT (1981) X-linked lymphoproliferative syndrome. An immunodeficiency disorder with acquired agammaglobulinemia, fatal infectious mononucleosis, or malignant lymphoma. Arch Pathol Lab Med 105:119-121.
2. Coffey AJ, et al. (1998) Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet 20:129-135.
3. Nichols KE, et al. (1998) Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci USA 95:13765-13770.
4. Sayos J, et al. (1998) The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature 395:462-469.
5. Veillette A (2006) Immuneregulation by SLAM family receptors and SAP-related adaptors. Nat Rev Immunol 6:56-66.
6. Morra M, et al. (2001) Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients. J Biol Chem 276:36809-36816.
7. Callan MF, et al. (1996) Large clonal expansions of CD8+ T cells in acute infectious mononucleosis. Nat Med 2:906-911.
8. Moss DJ, Bishop CJ, Burrows SR, Ryan JM (1985) T lymphocytes in infectious mononucleosis. I. T cell death in vitro. Clin Exp Immunol 60:61-69.
9. Williams H, et al. (2004) Analysis of immune activation and clinical events in acute infectious mononucleosis. J Infect Dis 190:63-71.
10. Masucci MG, et al. (1981) Cellular immune defects to Epstein-Barr virus-determined antigens in young males. Cancer Res 41:4284-4291.
11. Nakajima H, et al. (2000) Patients with X-linked lymphoproliferative disease have a defect in 2B4 receptor-mediated NK cell cytotoxicity. Eur J Immunol 30:3309-3318.
12. Sharifi R, et al. (2004) SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease. Blood 103:3821-3827.
13. Nagy N, et al. (2004) Wild-type p53 activates SAP expression in lymphoid cells. Oncogene 23:8563-8570.
14. Nagy N, et al. (2000) SH2D1A and SLAM protein expression in human lymphocytes and derived cell lines. Int J Cancer 88:439-447.
15. Sawyer RN, Evans AS, Niederman JC, McCollum RW (1971) Prospective studies of a group of Yale University freshmen. I. Occurrence of infectious mononucleosis. J Infect Dis 123:263-270.
16. Cohen JI (2000) Epstein-Barr virus infection. N Engl J Med 343:481-492.
17. Foss HD, et al. (1994) Patterns of cytokine gene expression in infectious mononucleosis. Blood 83:707-712.
18. Andersson J (1996) Clinical and immunological considerations in Epstein-Barr virus-associated diseases. Scand J Infect Dis Suppl 100:72-82.
19. Fisher MS, Jr., et al. (1996) Peripheral blood lymphocyte apoptosis: A clue to the diagnosis of acute infectious mononucleosis. Arch Pathol Lab Med 120:951-955.
20. Verbeke CS, Wenthe U, Bergler WF, Zentgraf H (2000) Characterization of the expanded T cell population in infectious mononucleosis: Apoptosis, expression of apoptosis-related genes, and Epstein-Barr virus (EBV) status. Clin Exp Immunol 120:294-300.
21. Czar MJ, et al. (2001) Altered lymphocyte responses and cytokine production in mice deficient in the X-linked lymphoproliferative disease gene SH2D1A/DSHP/SAP. Proc Natl Acad Sci USA 98:7449-7454.
22. Crotty S, McCausland MM, Aubert RD, Wherry EJ, Ahmed R (2006) Hypogammaglobulinemia and exacerbated CD8 T-cell-mediated immunopathology in SAP-deficient mice with chronic LCMV infection mimics human XLP disease. Blood 108:3085-3093.
23. Nagy N, et al. (2002) The X-linked lymphoproliferative disease gene product SAP is expressed in activated T and NK cells. Immunol Lett 82:141-147.
24. Chen G, et al. (2007) Increased proliferation of CD8+ T cells in SAP-deficient mice is associated with impaired activation-induced cell death. Eur J Immunol 37:663-674.
25. Brandau O, et al. (1999) Epstein-Barr virus-negative boys with non-Hodgkin-lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). Hum Mol Genet 8:2407-2413.
26. Sumegi J, et al. (2000) Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood 96:3118-3125.
27. Vandermoere F, et al. (2006) The valosin-containing protein (VCP) is a target of Akt signaling required for cell survival. J Biol Chem 281:14307-14313.
28. Braun RJ, et al. (2006) Crucial mitochondrial impairment upon CDC48 mutation in apoptotic yeast. J Biol Chem 281:25757-25767.
29. Partridge JJ, Lopreiato JO, Jr., Latterich M, Indig FE (2003) DNA damage modulates nucleolar interaction of the Werner protein with the AAA ATPase p97/VCP. Mol Biol Cell 14:4221-4229.
30. Winberg G, et al. (2000) Latent membrane protein 2A of Epstein-Barr virus binds WW domain E3 protein-ubiquitin ligases that ubiquitinate B-cell tyrosine kinases. Mol Cell Biol 20:8526-8535.
31. Shevchenko A, Wilm M, Vorm O, Mann M (1996) Mass spectrometric sequencing of proteins silver-stained polyacrylamide gels. Anal Chem 68:850-858.
32. Hellman U (2002) In Mass spectrometry and hyphenated techniques in neuropeptide research, eds Silberring J, Ekman R. (Wiley, New York) pp 259-275.