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Titolo:
Genes that modify the hemochromatosis phenotype in mice
Autore:
Levy, JE; Montross, LK; Andrews, NC;
Indirizzi:
Childrens Hosp, Div Hematol Oncol, Boston, MA 02115 USA Childrens Hosp Boston MA USA 02115 iv Hematol Oncol, Boston, MA 02115 USA Brigham & Womens Hosp, Dept Hematol, Boston, MA 02115 USA Brigham & WomensHosp Boston MA USA 02115 t Hematol, Boston, MA 02115 USA Harvard Univ, Sch Med, Howard Hughes Med Inst, Boston, MA 02115 USA Harvard Univ Boston MA USA 02115 rd Hughes Med Inst, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA Harvard Univ Boston MA USA 02115 h Med, Dept Pediat, Boston, MA 02115 USA
Titolo Testata:
JOURNAL OF CLINICAL INVESTIGATION
fascicolo: 9, volume: 105, anno: 2000,
pagine: 1209 - 1216
SICI:
0021-9738(200005)105:9<1209:GTMTHP>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY HEMOCHROMATOSIS; TRANSFERRIN RECEPTOR; IRON-ABSORPTION; CLINICAL EXPRESSION; PROTEIN HFE; TRANSPORTER; ASSOCIATION; MUTATION; NRAMP2; MOUSE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
45
Recensione:
Indirizzi per estratti:
Indirizzo: Andrews, NC Childrens Hosp, Div Hematol Oncol, Enders 720,300 Longwood Ave, Boston, MA02115 USA Childrens Hosp Enders 720,300 Longwood Ave Boston MA USA 02115
Citazione:
J.E. Levy et al., "Genes that modify the hemochromatosis phenotype in mice", J CLIN INV, 105(9), 2000, pp. 1209-1216

Abstract

Hereditary hemochromatosis (HH) is a prevalent human disease caused by a mutation in HFE, which encodes an atypical HLA class I protein involved in regulation of intestinal iron absorption. To gain insight into the pathogenesis of hemochromatosis, we have bred Hfe knockout mice to strains carrying other mutations that impair normal iron metabolism. Compound mutant mice lacking both Hfe and its interacting protein, beta-2 microglobulin (B2m), deposit more tissue iron than mice lacking Hfe only, suggesting that another B2m-interacting protein may be involved in iron regulation. Hfe knockout mice carrying mutations in the iron transporter DMT1 fail to load iron, indicating that hemochromatosis involves iron flux through DMT1. Similarly, compound mutants deficient: in both Hfe and hephaestin (Heph) show less iron loading than do Hfe knockout mice, indicating that iron absorption in hemochromatosis involves the function of Heph as well. Finally, compound mutants lacking Hfe and the transferrin receptor accumulate more tissue iron than do mice lacking Hfe alone, consistent with the idea that interaction between these two proteins contributes to the control of normal iron absorption. In addition to providing insight into the pathogenesis of HH, our results suggest that each of these genes might be a candidate modifier of the human hemochromatosis phenotype.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 06:36:38