Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis

Lancet

Volumn 353, Issue 9170, 1999, Pages 2120-2123

  Zoller, Heinz ^a   Vogel, Wolfgang ^a   Weiss, Gunter ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; COMPLEMENTARY DNA; FERRITIN; IRON; MESSENGER RNA;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DUODENUM BIOPSY; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; IRON OVERLOAD; IRON TRANSPORT; MALE; NORTHERN BLOTTING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; STATISTICAL ANALYSIS;

EID: 0344085880     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(98)11179-0     Document Type: Article

References (21)

1. Powell, L.W., Jazwinska, E., Halliday, J.W. Primary iron overload. In: Brock, J.H., Halliday, J.W., Pippard, M.J., Powell, L.W., eds. Iron metabolism in health and disease, 1st edn. Philadelphia: WB Saunders, 1994: 228-70.
2. Feder J.N., Gnirke A., Thomas W.et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 13:1996;399-408.
3. Jazwinska E.C., Cullen L.M., Busfield F.et al. Haemochromatosis and HLA-H. Nat Genet. 14:1996;249-251.
4. Jouanolle A.M., Gandon G., Jezequel P.et al. Haemochromatosis and HLA-H. Nat Genet. 14:1996;251-252.
5. Parkkila S., Waheed A., Britton R.S.et al. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci USA. 94:1997;13198-13202.
6. Santos M., Schilham M.W., Rademakers L.H.P.M., Marx J.J.M., de Sousa M., Clevers H. Defective iron homeostasis in beta2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man. J Exp Med. 184:1996;1975-1985.
7. Rothenberg B.E., Voland J.R. beta2 knockout mice develop parenchymal iron overload: a putative role for class I genes of the major histocompatibility complex in iron metabolism. Proc Natl Acad Sci USA. 93:1996;1529-1534.
8. Zhou X.Y., Tomatsu S., Fleming R.E.et al. HFE knockout produces mouse model of hereditary hemochromatosis. Proc Natl Acad Sci USA. 95:1998;2492-2497.
9. Feder J.N., Penny D.M., Irrinki A.et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA. 95:1998;1472-1477.
10. Lebron J.A., Bennett M.J., Vaughn D.E.et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell. 93:1998;111-123.
11. Gunshin H., Mackenzie B., Berger U.V.et al. Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature. 388:1997;482-488.
12. Fleming M.D., Trenor C.C., Su M.A.et al. Microcytic anemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nat Genet. 16:1997;383-386.
13. Fleming M.D., Romano M.A., Su M.A., Garrick L.M., Garrick M.D., Andrews N.C. Nramp-2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. Proc Natl Acad Sci USA. 95:1998;1148-1153.
14. Hentze M.W., Kahn L.C. Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress. Proc Natl Acad Sci USA. 93:1996;8175-8182.
15. Weiss G., Werner-Felmayer G., Werner E.R., Grünewald K., Wachter H., Hentze M.W. Iron regulates nitric oxide synthase activity by controlling nuclear transcription. J Exp Med. 180:1994;969-976.
16. Kishi F., Tabuchi M. Complete nucleotide sequence of human NRAMP2 cDNA. Mol Immunol. 34:1997;839-842.
17. Gilland G., Perrin S., Bunn H.F. Competitive PCR for quantitation of mRNA. Innis M.A., Gelfand D.H., Snisky J.J., White T.J. PCR Protocols. 1990;60-69 Academic Press Inc, San Diego.
18. Lawn R.M., Efstratiadis A., O'Connell C., Maniatis T. The nucleotide sequence of human β-globin gene. Cell. 21:1980;647-651.
19. Pietrangelo A., Rocchi E., Casalgrandi G.et al. Regulation of transferrin, transferrin receptor and ferritin genes in human duodenum. Gastroenterology. 102:1992;802-809.
20. Pietrangelo A., Casalgrandi G., Quaglino D.et al. Duodenal ferritin synthesis in genetic hemochromatosis. Gastroenterology. 108:1995;208-217.
21. Lee P.L., Gelbart T., West C., Halloran .C, Beutler E. The human Nramp gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. Blood Cells Mol Dis. 24:1998;199-215.