Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis

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

Volumn 100, Issue 26, 2003, Pages 15788-15793

  Tomatsu, Shunji ^a,b   Orii, Koji O ^a   Fleming, Robert E ^a   Holden, Christopher C ^a   Waheed, Abdul ^a   Britton, Robert S ^a   Gutierrez, Monica A ^a   Velez Castrillon, Susana ^a   Bacon, Bruce R ^a   Sly, William S ^a  

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

^b SHIMANE UNIVERSITY   (Japan)

Author keywords

C282Y mutation; Cre loxP; H63D mutation; Knock in mice

Indexed keywords

IRON;

ALLELE; ANIMAL CELL; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; GENE DISRUPTION; GENE MUTATION; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOSITY; HFE GENE; HOMOZYGOTE; IRON STORAGE; MOUSE; MULTIPLE ORGAN FAILURE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL;

AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; CHIMERA; CROSSES, GENETIC; DNA PRIMERS; GERM-LINE MUTATION; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; IRON; LIVER; MEMBRANE PROTEINS; MICE; MICE, TRANSGENIC; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; STEM CELLS;

ANIMALIA; MURINAE;

EID: 9144248397     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.2237037100     Document Type: Article

References (33)

1. Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R., Jr., Ellis, M. C., Fullan, A., et al. (1996) Nat. Genet. 13, 399-408.
2. Feder, J. N., Tsuchihashi, Z., Irrinki, A., Lee, V. K., Mapa, F. A., Morikang, E., Prass, C. E., Starnes, S. M., Wolff, R. K., Parkkila, S., et al. (1997) J. Biol. Chem. 272, 14025-14028.
3. Waheed, A., Parkkila, S., Zhou, X. Y., Tomatsu, S., Tsuchihashi, Z., Feder, J. N., Schatzman, R. C., Britton, R. S., Bacon, B. R. & Sly, W. S. (1997) Proc. Natl. Acad. Sci. USA 94, 12384-12389.
4. Parkkila, S., Waheed, A., Britton, R. S., Feder, J. N., Tsuchihashi, Z., Schatzman, R. C., Bacon, B. R. & Sly, W. S. (1997) Proc. Natl. Acad. Sci. USA 94, 2534-2539.
5. Waheed, A., Parkkila, S., Saarnio, J., Fleming, R. E., Zhou, X. Y., Tomatsu, S., Britton, R. S., Bacon, B. R. & Sly, W. S. (1999) Proc. Natl. Acad. Sci. USA 96, 1579-1584.
6. Feder, J. N., Penny, D. M., Irrinki, A., Lee, V. K., Lebron, J. A., Watson, N., Tsuchihashi, Z., Sigal, E., Bjorkman, P. J. & Schatzman, R. C. (1998) Proc. Natl. Acad. Sci. USA 95, 1472-1477.
7. Gross, C. N., Irrinki, A., Feder, J. N. & Enns, C. A. (1998) J. Biol. Chem. 273, 22068-22074.
8. Waheed, A., Grubb, J. H., Zhou, X. Y., Tomatsu, S., Fleming, R. E., Costaldi, M. E., Britton, R. S., Bacon, B. R. & Sly, W. S. (2002) Proc. Natl. Acad. Sci. USA 99, 3117-3122.
9. Burt M. J., George, P. M., Upton, J. D., Collett, J. A., Frampton, C. M., Chapman, T. M., Walmsley, T. A. & Chapman, B. A. (1998) Gut 43, 830-836.
10. Steinberg, K. K., Cogswell, M. E., Chang, J. C., Caudill, S. P., McQuillan, G. M., Bowman, B. A., Grummer-Strawn, L. M., Sampson, E. J., Khoury, M. J. & Gallagher, M. L. (2001) J. Am. Med. Assoc. 285, 2216-2222.
11. de Juan, D., Reta, A., Castiella, A., Pozueta, J., Prada, A. & Cuadrado, E. (2001) Eur. J. Hum. Genet. 9, 961-964.
12. Merryweather-Clarke, A. T., Pointon, J. J., Shearman, J. D. & Robson, K. J. (1997) J. Med. Genet. 34, 275-278.
13. Rochette, J., Pointon, J. J., Fisher, C. A., Perera, G., Arambepola, M., Arichchi, D. S., De Silva, S., Vandwalle, J. L., Monti, J. P., Old, J. M., et al. (1999) Am. J. Hum. Genet. 64, 1056-1062.
14. Cassanelli, S., Pignatti, E., Montosi, G., Garuti, C., Mariano, M., Campioli, D., Carbonieri, A., Baldini, E. & Pietrangelo, A. (2001) J. Hepatol. 34, 523-528.
15. Koziol, J. A., Ho, N. J., Felitti, V. J. & Beutler, E. (2001) Clin. Chem. 47, 1804-1810.
16. Gochee, P. A., Powell, L. W., Cullen, D. J., Du, S. D., Rossi, E. & Olynyk, J. K. (2002) Gastroenterology 122, 646-651.
17. Cogswell, M. E., Gallagher, M. L., Steinberg, K. K., Caudill PhD, S. P., Looker, A. C., Bowman, B. A., Gunter, E. W., Franks, A. L., Satten, G. A., Khoury, M. J., et al. (2003) Genet. Med. 5, 304-310.
18. Njajou, O. T., Houwing-Duistermaat, J. J., Osborne, R. H., Vaessen, N., Vergeer, J., Heeringa, J., Pols, H. A., Hofman, A. & van Duijn, C. M. (2003) Eur. J. Hum. Genet. 11, 225-231.
19. Fleming, R. E., Holden, C. C., Tomatsu, S., Waheed, A., Brunt, E. M., Britton, R. S., Bacon, B. R., Roopenian, D. C. & Sly, W. S. (2001) Proc. Natl. Acad. Sci. USA 98, 2707-2711.
20. Zhou, X. Y., Tomatsu, S., Fleming, R. E., Parkkila, S., Waheed, A., Jiang, J., Fei, Y., Brunt, E. M., Ruddy, D. A., Prass, C. E., et al. (1998) Proc. Natl. Acad. Sci. USA 95, 2492-2497.
21. Tomatsu, S., Orii, K. O., Vogler, C., Grubb, J. H., Snella, E. M., Gutierrez, M. A., Dieter, T., Sukegawa, K., Orii, T., Kondo, N., et al. (2002) Proc. Natl. Acad. Sci. USA 99, 14982-14987.
22. Tomatsu, S., Orii, K. O., Vogler, C., Grubb, J. H., Snella, E. M., Gutierrez, M., Dieter, T., Holden, C. C., Sukegawa, K., Orii, T., et al. (2003) Hum. Mol. Genet. 12, 961-973.
23. Marth, J. D. (1996) J. Clin. Invest. 97, 1999-2002.
24. Fielding, J. (1980) Methods Hematol. 1, 15-43.
25. Torrance, J. D. & Bothwell, T. H. Methods Hematol. 1, 90-115.
26. Sproule, T. J., Jazwinska, E. C., Britton, R. S., Bacon, B. R., Fleming, R. E., Sly, W. S. & Roopenian, D. C. (2001) Proc. Natl. Acad. Sci. USA 98, 5170-5174.
27. Carella, M., D'Ambrosio, L., Totaro, A., Grifa, A., Valentino, M. A., Piperno, A., Girelli, D., Roetto, A., Franco, B., Gasparini, P., et al. (1997) Am. J. Hum. Genet. 60, 828-832.
28. Beutler, E. (1997) Am. J. Hum. Genet. 61, 762-764.
29. Feeney, G. P. & Worwood, M. (2001) Biochim. Biophys. Acta 1538, 242-251.
30. Drakesmith, H., Sweetland, E., Schimanski, L., Edwards, J., Cowley, D., Ashraf, M., Bastin, J. & Townsend, A. R. (2002) Proc. Natl. Acad. Sci. USA 99, 15602-15607.
31. Roy, C. N., Carlson, E. J., Anderson, E. L., Basava, A., Starnes, S. M., Feder, J. N. & Enns, C. A. (2000) FEBS Lett. 484, 271-274.
32. Wang, J., Chen, G. & Pantopoulos, K. (2003) Biochem. J. 370, 891-899.
33. Lebron, J. A., Bennett, M. J., Vaughn, D. E., Chirino, A. J., Snow, P. M., Mintier, G. A., Feder, J. N. & Bjorkman, P. J. (1998) Cell 93, 111-123.