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Blood, 1 April 2004, Vol. 103, No. 7, pp. 2841-2843. Prepublished online as a Blood First Edition Paper on December 4, 2003; DOI 10.1182/blood-2003-09-3358. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-09-3358v1 103/7/2841    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Nicolas, G. Articles by Vaulont, S. Search for Related Content PubMed PubMed Citation Articles by Nicolas, G. Articles by Vaulont, S. Related Collections Red Cells Brief Reports Related Articles in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  RED CELLS Brief report Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice Gaël Nicolas, Nancy C. Andrews, Axel Kahn, and Sophie Vaulont From the Institut National de la Santé et de la Recherche Médicale 409, Faculté de Médecine Xavier Bichat, Paris, France; Howard Hughes Medical Institute, Children's Hospital, Harvard Medical School, Boston, MA; and Département de Génétique, Développement et Pathologie Moléculaire, Institut Cochin, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, et Université René Descartes, Faculté de Médecine Cochin-Port Royal, Paris, France. Hereditary hemochromatosis (HH) type I is a disorder of iron metabolism caused by a mutation in the HFE gene. Whereas the prevalence of the mutation is very high, its penetrance seems very low. The goal of our study was to determine whether hepcidin, a recently identified iron-regulatory peptide, could be a genetic modifier contributing to the HH phenotype. In mice, deficiency of either HFE (Hfe-/-) or hepcidin (Usf2-/-) is associated with the same pattern of iron overload observed in patients with HH. We intercrossed Hfe-/- and Usf2+/- mice and asked whether hepcidin deficiency increased the iron burden in Hfe-/- mice. Our results showed that, indeed, liver iron accumulation was greater in the Hfe-/-Usf2+/- mice than in mice lacking Hfe alone. This result, in agreement with recent findings in humans, provides a genetic explanation for some variability of the HH phenotype. (Blood. 2004;103: 2841-2843) CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Articles in Blood Online: Another link in the chain Richard Ajioka and James Kushner Blood 2004 103: 2439-2440. [Full Text] [PDF] HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype Sandrine Jacolot, Gerald Le Gac, Virginie Scotet, Isabelle Quere, Catherine Mura, and Claude Ferec Blood 2004 103: 2835-2840. [Abstract] [Full Text] [PDF] This article has been cited by other articles: P. Matak, T. B. Chaston, B. Chung, S. K. Srai, A. T. McKie, and P. A. Sharp Activated macrophages induce hepcidin expression in HuH7 hepatoma cells Haematologica, June 1, 2009; 94(6): 773 - 780. [Abstract] [Full Text] [PDF] N. C. Andrews Forging a field: the golden age of iron biology Blood, July 15, 2008; 112(2): 219 - 230. [Full Text] [PDF] J. Chen, M. Chloupkova, J. Gao, T. L. Chapman-Arvedson, and C. A. Enns HFE Modulates Transferrin Receptor 2 Levels in Hepatoma Cells via Interactions That Differ from Transferrin Receptor 1-HFE Interactions J. Biol. Chem., December 21, 2007; 282(51): 36862 - 36870. [Abstract] [Full Text] [PDF] C. Camaschella Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders Blood, December 1, 2005; 106(12): 3710 - 3717. [Abstract] [Full Text] [PDF] I. De Domenico, D. M. Ward, E. Nemeth, M. B. Vaughn, G. Musci, T. Ganz, and J. Kaplan The molecular basis of ferroportin-linked hemochromatosis PNAS, June 21, 2005; 102(25): 8955 - 8960. [Abstract] [Full Text] [PDF] E. Tolosano, S. Fagoonee, C. Garuti, L. Valli, N. C. Andrews, F. Altruda, and A. Pietrangelo Haptoglobin modifies the hemochromatosis phenotype in mice Blood, April 15, 2005; 105(8): 3353 - 3355. [Abstract] [Full Text] [PDF] G. Le Gac, V. Scotet, C. Ka, I. Gourlaouen, L. Bryckaert, S. Jacolot, C. Mura, and C. Ferec The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype Hum. Mol. Genet., September 1, 2004; 13(17): 1913 - 1918. [Abstract] [Full Text] [PDF] S. Jacolot, G. Le Gac, V. Scotet, I. Quere, C. Mura, and C. Ferec HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype Blood, April 1, 2004; 103(7): 2835 - 2840. [Abstract] [Full Text] [PDF]

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