The hemochromatosis founder mutation in HLA-H disrupts β2- microglobulin interaction and cell surface expression

Journal of Biological Chemistry

Volumn 272, Issue 22, 1997, Pages 14025-14028

  Feder, John N ^a   Tsuchihashi, Zenta ^a   Irrinki, Alivelu ^a   Lee, Vincent K ^a   Mapa, Felipa A ^a   Morikang, Ebenezer ^a   Prass, Cynthia E ^a   Starnes, Steven M ^a   Wolff, Roger K ^a   Parkkila, Seppo ^b   Sly, William S ^b   Schatzman, Randall C ^a  

^a Mercator Genetics Inc   (United States)

^b SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA 2 MICROGLOBULIN;

ARTICLE; GENE MUTATION; HEMOCHROMATOSIS; HLA SYSTEM; HUMAN CELL; MOLECULAR CLONING; PRIORITY JOURNAL; PROTEIN LOCALIZATION;

BASE SEQUENCE; BETA 2-MICROGLOBULIN; CELL MEMBRANE; GENE EXPRESSION REGULATION; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 17644434333     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.272.22.14025     Document Type: Article

References (22)

1. Dadone, M. M., Kushner, J. P., Edwards, C. Q., Bishop, D. T., and Skolnick, M. H. (1982) Am. J. Clin. Pathol. 78, 196-207
2. Edwards, C. Q., Griffen, L. M., Goldgar, D., Drummond, C., Skolnick, M. H., and Kushner, J. P. (1988) N. Engl. J. Med. 318, 1355-1362
3. Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R., Ellis, M. C., Fullan, A., Hinton, L. M., Jones, N. L., Kimmel, B. E., Kronmal, G. S., Lauer, P., Lee, V. K., Loeb, D. B., Mapa, F. A., McClelland, E. E., Meyer, N. C., Mintier, G. A., Moeller, N. N., Moore, T., Morikang, E., Prass, C. E., Quintana, L., Starnes, S. M., Schatzman, R. C., Brunke, K. J., Drayna, D. T., Risch, N. J., Bacon, B. R., and Wolff, R. K. (1996) Nat. Genet. 13, 399-408
4. Jaswinska, E. C., Cullen, L. M., Busfield, F., Pyper, W. R., Webb, S. I., Powell, L. W., Morris, C. P., and Walsh, T. P. (1996) Nat. Gen. 14, 250-251
5. Jouanolle, A. M., Gandon, G., Jezequel, P., Blayau, M., Campion, M. L., Yaouang, J., Mosser, J., Fergelot, P., Chauvel, B., Bouric, P., Carn, G., Andrieux, N., Gicquel, I., Gall, J.-Y. L., and David, V. (1996) Nat. Gen. 14, 251-252
6. Beutler, E., Gelbart, T., West, C., Lee, P., Adams, M., Blackstone, R., Pockros, P., Kosty, M., Vendetti, C. P., Phatak, P. D., Seese, N. K., Chorney, K. A., Elshof, A. E. T., Gerhard, G. S., and Chorney, M. (1996) Blood Cells Mol. Dis. 22, 187-194
7. Bjorkman, P. J., and Parham, P. (1990) Annu. Rev. Biochem. 59, 253-288
8. de Souza, M., Reimao, R., Lacerda, R., Hugo, P., Kaufmann, S. H. E., and Porto, G. (1994) Immunol. Lett. 39, 105-111
9. Rothenberg, B. E., and Voland, J. R. (1996) Proc. Natl. Acad. Sci. U. S. A. 93, 1529-1534
10. Santos, M., Schilham, M. W., Rademakers, L. H., Marx, J. J., de Souza, M., and Clevers, H. (1996) J. Exp. Med. 184, 1975-1985
11. Miyazaki, J., Appella, E., and Ozato, K. (1986) Proc. Natl. Acad. Sci. U. S. A. 83, 757-761
12. Privalsky, M. L., and Bishop, J. M. (1984) Virology 135, 356-368
13. Ford, C. F., Suominen, I., and Glatz, C. E. (1991) Protein Expression Purif. 2, 95-107
14. Arce-Gomez, B., Jones, E. A., Barnstable, C. J., Solomon, E., and Bodmer, W. F. (1978) Tissue Antigens 11, 96-112
15. Seong, R. H., Clayberger, C. A., Krensky, A. M., and Parnes, J. R. (1988) J. Exp. Med. 167, 288-299
16. Hansen, T. H., Myers, N. B., and Lee, D. R. (1988) J. Immunol. 140, 3522-3527
17. Ploegh, H. L., Cannon, L. E., and Strominger, J. L. (1979) Proc. Natl. Acad. Sci. U. S. A. 76, 2273-2277
18. Krangel, M. S., Orr, H. T., and Strominger, J. L. (1979) Cell 18, 979-991
19. Owen, M. J., Kissonerghis, A.-M., and Lodish, H. L. (1980) J. Biol. Chem. 255, 9678-9684
20. Williams, D. B., and Watts, T. H. (1995) Curr. Opin. Immunol. 7, 77-84
21. Hsu, V. W., Yuan, L. C., Nuchtern, J. G., Lippincott-Schwartz, J., Hammerling, G. J., and Klausner, R. D. (1991) Nature 352, 441-444
22. Salter, R. D. (1994) Immunogenetics 39, 266-271