Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice

Blood

Volumn 103, Issue 7, 2004, Pages 2841-2843

  Nicolas, Gaël ^b   Andrews, Nancy C ^b   Kahn, Axel ^b   Vaulont, Sophie ^a  

^a INSTITUT COCHIN   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

HEPCIDIN; HFE PROTEIN; IRON REGULATORY FACTOR;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; DNA MODIFICATION; GENE MUTATION; GENETIC VARIABILITY; HEMOCHROMATOSIS; HEREDITARY HEMOCHROMATOSIS TYPE 1; IRON METABOLISM; IRON OVERLOAD; LIVER; MOUSE; NONHUMAN; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL;

EID: 1642416424     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-09-3358     Document Type: Article

References (22)

1. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399-408.
2. Zhou XY, Tomatsu S, Fleming RE, et al. HFE gene knockout produces mouse model of hereditary hemochromatosis. Proc Natl Acad Sci U S A. 1998;95:2492-2497.
3. Levy JE, Montross LK, Cohen DE, Fleming MD, Andrews NC. The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. Blood. 1999;94:9-11.
4. Bahram S, Gilfillan S, Kuhn LC, et al. Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism. Proc Natl Acad Sci U S A. 1999;96:13312-13317.
5. Beutler E. The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Blood. 2003;101:3347-3350.
6. Dupic F, Fruchon S, Bensaid M, et al. Inactivation of the hemochromatosis gene differentially regulates duodenal expression of iron-related mRNAs between mouse strains. Gastroenterology. 2002;122:745-751.
7. Levy JE, Montross LK, Andrews NC. Genes that modify the hemochromatosis phenotype in mice. J Clin Invest. 2000;105:1209-1216.
8. Lee PL, Gelbart T, West C, Halloran C, Felitti V, Beutler E. A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin. Blood Cells Mol Dis. 2001;27:783-802.
9. Krause A, Neitz S, Magert HJ, et al. LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity. FEBS Lett. 2000;480:147-150.
10. Pigeon C, Ilyin G, Courselaud B, et al. A new mouse liver specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem. 2001;276:7811-7819.
11. Park CH, Valore EV, Waring AJ, Ganz T. Hepcidin: a urinary antimicrobial peptide synthesized in the liver. J Biol Chem. 2001;276:7806-7810
12. Nicolas G, Bennoun M, Devaux I, et al. 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. 2001;98:8780-8785.
13. Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet. 2003;33:21-22.
14. Bridle KR, Frazer DM, Wilkins SJ, et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homeostasis. Lancet. 2003;361:669-673.
15. Ahmad KA, Ahmann JR, Migas MC, et al. Decreased liver hepcidin expression in the hfe knockout mouse. Blood Cells Mol Dis. 2002;29:361-366.
16. Muckenthaler M, Roy CN, Custodio AO, et al. Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. Nat Genet. 2003;34:102-107.
17. Nicolas G, Viatte L, Lou DQ, et al. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. Nat Genet. 2003;34:97-101.
18. Torrance JD, Bothwell TH. Tissue iron stores. Methods Hematol. 1980;1:90-115.
19. Nicolas G, Bennoun M, Porteu A, et al. Severe iron deficiency anemia in transgenic mice expressing liver hepcidin. Proc Natl Acad Sci U S A. 2002;99:4596-4601.
20. Sproule TJ, Jazwinska EC, Britton RS, et al. Naturally variant autosomal and sex-linked loci determine the severity of iron overload in beta 2-microglobulin-deficient mice. Proc Natl Acad Sci U S A. 2001;98:5170-5174.
21. Merryweather-Clarke AT, Cadet E, Bomford A, et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum Mol Genet. 2003;12:2241-2247.
22. Jacolot S, Le Gac G, Scotet V, et al. HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. Blood. 2004;103:2835-2840.