Of mice and men: The iron age

Journal of Clinical Investigation

Volumn 115, Issue 8, 2005, Pages 2079-2082

  Vaulont, Sophie ^a   Lou, Dan Qing ^a   Viatte, Lydie ^a   Kahn, Axel ^a  

^a INSTITUT COCHIN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FERROPORTIN 1; GENE PRODUCT; HEMOJUVELIN; HEPCIDIN; UNCLASSIFIED DRUG;

ANIMAL MODEL; CHROMOSOME 1; GENE; GENE DISRUPTION; GENE EXPRESSION; GENE MUTATION; HEMOCHROMATOSIS; HJV GENE; HUMAN; IRON BALANCE; JUVENILE HEMOCHROMATOSIS; MOUSE; MOUSE MUTANT; NONHUMAN; PRIORITY JOURNAL; REVIEW;

ANIMALS; CHROMOSOMES, HUMAN, PAIR 1; DISEASE MODELS, ANIMAL; HEMOCHROMATOSIS; HOMEOSTASIS; HUMANS; IRON; MEMBRANE PROTEINS; MICE; MICE, KNOCKOUT;

EID: 23644453776     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI25642     Document Type: Review

References (32)

1. Papanikolaou, G., et al. 2004. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat. Genet. 36:77-82.
2. Huang, F.W., Pinkus, J.L., Pinkus, G.S., Fleming, M.D., and Andrews, N.C. 2005. A mouse model of juvenile hemochromatosis. J. Clin. Invest. 115:2187-2191. doi:10.1172/JCI25049.
3. Niederkofler, V., Salie, R., and Arber, S. 2005. Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload. J. Clin. Invest. 115:2180-2186. doi:10.1172/JCI25683.
4. Andrews, N.C. 2005. Molecular control of iron metabolism. Best Pract. Res. Clin. Haematol. 18:159-169.
5. Pietrangelo, A. 2004. Hereditary hemochromatosis-a new look at an old disease. N. Engl. J. Med. 350:2383-2397.
6. Feder, J.N., et al. 1996. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13:399-408.
7. Camaschella, C., et al. 2000. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat. Genet. 25:14-15.
8. Roetto, A., and Camaschella, C. 2005. New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis. Best Pract. Res. Clin. Haematol. 18:235-250.
9. Johnson, M.B., and Enns, C.A. 2004. Diferric transferrin regulates transferrin receptor 2 protein seability. Blood. 104:4287-4293.
10. Robb, A., and Wessling-Resnick, M. 2004. Regulation of transferrin receptor 2 protein levels by transferrin. Blood. 104:4294-4299.
11. Zhou, X.Y., et al. 1993. HFE gene knockout produces mouse model of hereditary hemochromatosis. Proc. Natl. Acad. Sci. U. S. A. 95:2492-2497.
12. Levy, J.E., Montross, L.K., Cohen, D.E., Fleming, M.D., and Andrews, N.C. 1999. The C232Y mutation causing hereditary hemochromatosis does not produce a null slide. Blood. 94:9-11.
13. Bahram, S., et al. 1999. Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism. Proc. Natl. Acad. Sci. U. S. A. 96:13312-13317.
14. Fleming, R.E., et al. 2002. Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis. Proc. Natl. Acad. Sci. U. S. A. 99:10653-10658.
15. Ganz, T. 2005. Hepcidin-a regulator of intestinal iron absorption and iron recycling by macrophages. Best Pract. Res. Clin. Haematol. 18:171-182.
16. Nicolas, G., et al. 2001. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc. Natl. Acad. Sci. U. S. A. 98:8780-8785.
17. Nicolas, G., et al. 2002. Severe iron deficiency anemia in transgenic mice expressing liver hepcidin. Proc. Natl. Acad. Sci. U. S. A. 99:4596-4601.
18. Nemeth, E., et al. 2004. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science. 306:2090-2093.
19. Knutson, M.D., Oukka, M., Koss, L.M., Aydemir, F., and Wessling-Resnick, M. 2005. Iron release from macrophages after erythrophagocytosis is up-regulated by ferroportin 1 overexpression and down-regulated by hepcidin. Proc. Natl. Acad. Sci. U. S. A. 102:1324-1328.
20. Donovan, A., et al. 2005. The iron exporter ferroportin (Slc40a1) is essential for iron homeostasis. Cell Metabolism. 1:191-200.
21. Ahmad, K.A., et al. 2002. Decreased liver hepcidin expression in the hfe knockout mouse. Blood Cells Mol. Dis. 29:361-366.
22. Bridle, K.R., et al. 2003. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homeostasis. Lancet. 361:669-673.
23. Nemeth, E., et al. 2003. Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein. Blood. 101:2461-2463.
24. Nicolas, G., et al. 2003. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. Nat. Genet. 34:97-101.
25. Muckenthaler, M., et al. 2003. Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. Nat. Genet. 34:102-107.
26. Kawabata, H., et al. 2005. Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis. Blood. 105:376-381.
27. Nemeth, E., Roetto, A., Garozzo, G., Ganz, T., and Camaschella, C. 2004. Hepcidin is decreased in TFR2-hemochromatosis. Blood. 105:4103-4105.
28. Pietrangelo, A. 2004. The ferroportin disease. Blood Cells Mol. Dis. 32:131-138.
29. Papanikolaou, G., et al. 2005. Hepcidin in iron overload disorders. Blood. 105:4103-4105.
30. Viatce, L., et al. 2005. Deregulation of proteins involved in iron metabolism in hepcidin-deficient mice. Blood. 105:4861-4864.
31. Drakesmith, H., et al. 2005. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood. doi:10.1182/blood- 2005-02-0561.
32. Nicolas, G., et al. 2002. The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation. J. Clin. Invest. 110:1037-1044. doi:10.1172/JCI200215686.