A high-frequency polymorphism in exon 6 of the CD45 tyrosine phosphatase gene (PTPRC) resulting in altered isoform expression

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

Volumn 100, Issue 10, 2003, Pages 5997-6002

  Stanton, Tara ^a   Boxall, Sally ^b   Hirai, Kouzo ^c   Dawes, Ritu ^b   Tonks, Susan ^a   Yasui, Tomoyo ^c   Kanaoka, Yasushi ^c   Yuldasheva, Nadira ^a   Ishiko, Osamu ^c   Bodmer, Walter ^a   Beverley, Peter C L ^b   Tchilian, Elma Z ^b  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b Churchill Hospital   (United Kingdom)

^c OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CD45 ANTIGEN; ISOENZYME; PROTEIN TYROSINE PHOSPHATASE;

ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; DIMERIZATION; EXON; GENETIC POLYMORPHISM; GLYCOSYLATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNE RESPONSE; IMMUNOPATHOLOGY; LIGAND BINDING; LYMPHOCYTE; NATURAL SELECTION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; RACE; SIGNAL TRANSDUCTION;

ADULT; AGED; AGING; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA PRIMERS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENITAL NEOPLASMS, FEMALE; GEOGRAPHY; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; ISOENZYMES; MEMBRANE PROTEINS; MIDDLE AGED; PHOSPHOPROTEINS; POLYMORPHISM, GENETIC; REFERENCE VALUES;

EID: 20244385671     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0931490100     Document Type: Article

References (36)

1. Penninger, J. M., Irie-Sasaki, J., Sasaki, T. & Oliveira-Dos-Santos, A. J. (2001) Nat. Immunol. 2, 389-396.
2. Irie-Sasaki, J., Sasaki, T., Matsumoto, W., Opavsky, A., Cheng, M., Welstead, G., Griffiths, E., Krawczyk, C., Richardson, C. D., Aitken, K., et al. (2001) Nature 409, 349-354.
3. Kishihara, K., Penninger, J., Wallace, V. A., Kundig, T. M., Kawai, K., Wakeham, A., Timms, E., Pfeffer, K., Ohashi, P. S., Thomas, M. L. et al. (1993) Cell 74, 143-156.
4. Byth, K. F., Conroy, L. A., Howlett, S., Smith, A. J., May, J., Alexander, D. R. & Holmes, N. (1996) J. Exp. Med. 183, 1707-1718.
5. Kung, C., Pingel, J. T., Heikinheimo, M., Klemola, T., Varkila, K., Yoo, L. I., Vuopala, K., Poyhonen, M., Uhari, M., Rogers, M., et al. (2000) Nat. Med. 6, 343-345.
6. Tchilian, E. Z., Wallace, D. L., Wells, R. S., Flower, D. R., Morgan, G. & Beverley, P. C. (2001) J. Immunol. 166, 1308-1313.
7. Streuli, M., Hall, L. R., Saga, Y., Schlossman, S. F. & Saito, H. (1987) J. Exp. Med. 166, 1548-1566.
8. Akbar, A. N., Terry, L., Timms, A., Beverley, P. C. & Janossy, G. (1988) J. Immunol. 140, 2171-2178.
9. Schwinzer, R. & Wonigeit, K. (1990) J. Exp. Med. 171, 1803-1808.
10. Jacobsen, M., Hoffmann, S., Cepok, S., Stei, S., Ziegler, A., Sommer, N. & Hemmer, B. (2002) Immunogenetics 54, 158-163.
11. Jacobsen, M., Schweer, D., Ziegler, A., Gaber, R., Schock, S., Schwinzer, R., Wonigeit, K., Lindert, R. B., Kantarci, O., Schaefer-Klein, J., et al. (2000) Nat. Genet. 26, 495-499.
12. Ballerini, C., Rosati, E., Salvetti, M., Ristori, G., Cannoni, S., Biagioli, T., Massacesi, L., Sorbi, S. & Vergelli, M. (2002) Neurosci. Lett. 328, 325-327.
13. Vorechovsky, I., Kralovicova, J., Tchilian, E., Masterman, T., Zhang, Z., Ferry, B., Misbah, S., Chapel, H., Webster, D., Hellgren, D., et al. (2001) Nat. Genet. 29, 22-23.
14. Barcellos, L. F., Caillier, S., Dragone, L., Elder, M., Vittinghoff, E., Bucher, P., Lincoln, R. R., Pericak-Vance, M., Haines, J. L., Weiss, A., et al. (2001) Nat. Genet. 29, 23-24.
15. Tchilian, E. Z., Wallace, D. L., Dawes, R., Imami, N., Burton, C., Gotch, F. & Beverley, P. C. (2001) AIDS 15, 1892-1894.
16. Tchilian, E. Z., Dawes, R., Ramaley, P. A., Whitworth, J. A., Yuldasheva, N., Wells, S., Watera, C., French, N., Gilks, C. F., Kunachiwa, W., et al. (2002) Immunogenetics 53, 980-983.
17. Bartlett, S., Straub, J., Tonks, S., Wells, R. S., Bodmer, J. G. & Bodmer, W. F. (2001) Proc. Natl. Acad. Sci. USA 98, 2694-2697.
18. Van den Steen, P., Rudd, P. M., Dwek, R. A. & Opdenakker, G. (1998) Crit. Rev. Biochem. Mol. Biol. 33, 151-208.
19. Tsai, A. Y., Streuli, M. & Saito, H. (1989) Mol. Cell. Biol. 9, 4550-4555.
20. Smith, C. W. & Valcarcel, J. (2000) Trends Biochem. Sci. 25, 381-388.
21. Lynch, K. W. & Weiss, A. (2001) J. Biol. Chem. 276, 24341-24347.
22. Pulido, R., Schlossman, S. F., Saito, H. & Streuli, M. (1994) J. Exp. Med. 179, 1035-1040.
23. Stamenkovic, I., Sgroi, D., Aruffo, A., Sy, M. S. & Anderson, T. (1991) Cell 66, 1133-1144.
24. Perillo, N. L., Pace, K. E., Seilhamer, J. J. & Baum, L. G. (1995) Nature 378, 736-739.
25. Walzel, H., Schulz, U., Neels, P. & Brock, J. (1999) Immunol. Lett. 67, 193-202.
26. Symons, A., Cooper, D. N. & Barclay, A. N. (2000) Glycobiology 10, 559-563.
27. Martinez-Pomares, L., Crocker, P. R., Da Silva, R., Holmes, N., Colominas, C., Rudd, P., Dwek, R. & Gordon, S. (1999) J. Biol. Chem. 274, 35211-35218.
28. Uemura, K., Yokota, Y., Kozutsumi, Y. & Kawasaki, T. (1996). J. Biol. Chem. 271, 4581-4584.
29. Baldwin, T. A. & Ostergaard, H. L. (2001) J. Immunol. 167, 3829-3835.
30. Alexander, D. R. (1997) in Lymphocyte Signalling: Mechanisms, Subversion, and Manipulation, eds. Harnett, M. M. & Rigley, K. P (Wiley, New York), p. 107.
31. Leitenberg, D., Boutin, Y., Lu, D. D. & Bottomly, K. (1999) Immunity 10, 701-711.
32. Dornan, S., Sebestyen, Z., Gamble, J., Nagy, P., Bodnar, A., Alldridge, L., Doe, S., Holmes, N., Goff, L. K., Beverley, P., et al. (2002) J. Biol. Chem. 277, 1912-1918.
33. Majeti, R., Xu, Z., Parslow, T. G., Olson, J. L., Daikh, D. I., Killeen, N. & Weiss, A. (2000) Cell 103, 1059-1070.
34. Xu, Z. & Weiss, A. (2002) Nat. Immunol. 3, 764-771.
35. Roberts, D. F. (1991) Genet. Epidemiol. 8, 147-151.
36. Rothwell, P. M. & Charlton, D. (1998) J. Neurol. Neurosurg. Psychiatry 64, 730-735.