Differential methylation pattern of the X-linked lymphoproliferative (XLP) disease gene SH2D1A correlates with the cell lineage-specific transcription

Immunogenetics

Volumn 55, Issue 2, 2003, Pages 116-121

  Parolini, Ornella ^a,b   Weinhäusel, Andreas ^c   Kagerbauer, Birgit ^a   Sassmann, Joachim ^a   Holter, Wolfgang ^d   Gadner, Helmut ^c   Haas, Oskar A ^c   Knapp, Walter ^a  

^a UNIVERSITY OF VIENNA   (Austria)

^b Poliambulanza Hospital   (Italy)

^c ST ANNA CHILDREN S HOSPITAL   (Austria)

^d UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

CpG; DNA methylation; SH2D1A; Tissue specific expression; XLP

Indexed keywords

BISULFITE; CYTOPLASM PROTEIN; RESTRICTION ENDONUCLEASE; SIGNALING LYMPHOCYTE ACTIVATION MOLECULE ASSOCIATED PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BASE PAIRING; CELL LINEAGE; CPG ISLAND; DNA METHYLATION; EXON; GENE EXPRESSION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; INTRON; LYMPHOPROLIFERATIVE DISEASE; PRIORITY JOURNAL; START CODON; TISSUE SPECIFICITY; X LINKED LYMPHOPROLIFERATIVE DISEASE;

HUMAN HERPESVIRUS 4;

EID: 0038130979     PISSN: 00937711     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00251-003-0557-x     Document Type: Article

References (29)

1. Benoit L, Wang X, Pabst HF, Dutz J, Tan R (2000) Defective NK cell activation in X-linked lymphoproliferative disease. J Immunol 165:3549-3553
2. Bottino C, Falco M, Parolini S, Marcenaro E, Augugliaro R, Sivori S, Landi E, Biassoni R, Notarangelo LD, Moretta L, Moretta A (2001) GNTB-A, a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease. J Exp Med 194:235-246
3. Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP, Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E, Shaw-Smith CJ, Dunham A, Rhodes S, Schuster V, Porta G, Yin L, Serafini P, Sylla B, Zollo M, Franco B, Bentley DR, 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
4. Czar MJ, Kersh EN, Mijares LA, Lanier G, Lewis J, Yap G, Chen A, Sher A, Duckett CS, Ahmed R, Schwartzberg PL (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
5. Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB (1996) Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 93:9821-9826
6. Hornstra IK, Nelson DL, Warren ST, Yang TP (1993) High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. Hum Mol Genet 2:1659-1665
7. Huber R, Hansen RS, Strazzullo M, Pengue G, Mazzarella R, D'Urso M, Schlessinger D, Pilia G, Gartler SM, D'Esposito M (1999) DNA methylation in transcriptional repression of two differentially expressed X-linked genes, GPC3 and SYBL1. Proc Natl Acad Sci USA 96:616-621
8. Kaludov NK, Wolffe AP (2000) MeCP2-driven transcriptional repression in vitro: selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery. Nucleic Acids Res 28:1921-1928
9. Kass SU, Landsberger N, Wolffe AP (1997) DNA methylation directs a time-dependent repression of transcription initiation. Curr Biol 7:157-165
10. Jones PL, Veenstra GJ, Wade PA, Vermaak D, Kass SU, Landsberger N, Strouboulis J, Wolffe AP (1998) Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nat Genet 19:187-191
11. Lu Q, Ray D, Gutsch D, Richardson B (2002) Effect of DNA methylation and chromatin structure on ITGAL expression. Blood 99:4503-4508
12. Morra M, Howie D, Grande MS, Sayos J, Wang N, Wu C, Engel P, Terhorst C (2001) X-linked lymphoproliferative disease: a progressive immunodeficiency. Annu Rev Immunol 19:657-682
13. Nagy N, Cerboni C, Mattsson K, Maeda A, Gogolak P, Sumegi J, Lanyi A, Szekely L, Carbone E, Klein G, Klein E (2000) SH2D1A and SLAM protein expression in human lymphocytes and derived cell lines. Int J Cancer 88:439-447
14. Nakajima H, Colonna M (2000) 2B4: an NK cell activating receptor with unique specificity and signal transduction mechanism. Hum Immunol 61:39-43
15. Nakajima H, Cella M, Bouchon A, Grierson HL, Lewis J, Duckett CS, Cohen JI, Colonna M (2000) Patients with X-linked lymphoproliferative disease have a defect in 2B4 receptor-mediated NK cell cytotoxicity. Eur J Immunol 30:3309-3318
16. Nakamura H, Zarycki J, Sullivan JL, Jung JU (2001) Abnormal T cell receptor signal transduction of CD4 TH cells in X-linked lymphoproliferative syndrome. J Immunol 167:2657-2665
17. Nichols KE, Harkin DP, Levitz S, Krainer M, Kolquist KA, Genovese C, Bernard A, Ferguson M, Zuo L, Snyder E, Buckler AJ, Wise C, Ashley J, Lovett M, Valentine MB, Look AT, Gerald W, Housman DE, Haber DA (1998) Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci USA 95:13765-13770
18. Parolini O, Rohrer J, Shapiro LH, Conley ME (1995) B-cell-specific demethylation of BTK, the defective gene in X-linked agammaglobulinemia. Immunogenetics 42:129-135
19. Parolini O, Berardelli S, Riedl E, Bello-Fernandez C, Strobl H, Majdic O, Knapp W (1997) Expression of Wiskott-Aldrich syndrome protein (WASP) gene during hematopoietic differentiation. Blood 90:70-75
20. Parolini S, Bottino C, Falco M, Augugliaro R, Giliani S, Franceschini R, Ochs HD, Wolf H, Bonnefoy JY, Biassoni R, Moretta L, Notarangelo LD, Moretta A (2000) X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. J Exp Med 192:337-46
21. Parolini O, Kagerbauer B, Simonitsch-Klupp I, Ambros P, Jaeger U, Mann G, Haas OA, Morra M, Gadner H, Terhorst C, Knapp W, Holter W (2002) Analysis of SH2D1A mutations in patients with severe Epstein-Barr virus infections, Burkitt's lymphoma and Hodgkin's lymphoma. Ann Hematol 81:441-7
22. Sayos J, Wu C, Morra M, Wang N, Zhang X, Allen D, van Schaik S, Notarangelo L, Geha R, Roncarolo MG, Oettgen H, De Vries JE, Aversa G, Terhorst C (1998) The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature 395:462-469
23. Sayos J, Nguyen KB, Wu C, Stepp SE, Howie D, Schatzle JD, Kumar V, Biron CA, Terhorst C (2000) Potential pathways for regulation of NK and T cell responses: differential X-linked lymphoproliferative syndrome gene product SAP interactions with SLAM and 2B4. Int Immunol 12:1749-1757
24. Sayos J, Martin M, Chen A, Simarro M, Howie D, Morra M, Engel P, Terhorst C (2001) Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP. Blood 97:3867-3874
25. Siegfried Z, Eden S, Mendelsohn M, Feng X, Tsuberi BZ, Cedar H (1999) DNA methylation represses transcription in vivo. Nat Genet 22:203-206
26. Tangye SG, Lazetic S, Woollatt E, Sutherland GR, Lanier LL, Phillips JH (1999) Cutting edge: human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP. J Immunol 162:6981-6985
27. Weinhaeusel A, Haas OA (2001) Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR. Hum Genet 108:450-458
28. Wu C, Nguyen KB, Pien GC, Wang N, Gullo C, Howie D, Sosa MR, Edwards MJ, Borrow P, Satoskar A R, Sharpe A H, Biron CA, Terhorst C (2001) SAP controls T cell responses to virus and terminal differentiation of TH2 cells. Nat Immunol 2:410-414
29. Wu C, Sayos J, Wang N, Howie D, Coyle A, Terhorst C (2000) Genomic organization and characterization of mouse SAP, the gene that is altered in X-linked lymphoproliferative disease. Immunogenetics 51:805-815