PMID:21993681

Citation	Bartnikas, TB and Fleming, MD (2012) Hemojuvelin is essential for transferrin-dependent and transferrin-independent hepcidin expression in mice. Haematologica 97:189-92
Abstract	Here we investigate the regulation of hepcidin, a hormone that inhibits dietary iron absorption and macrophage iron recycling, by the serum iron-binding protein transferrin. Mice deficient in transferrin (Tf(hpx/hpx)) and hemojuvelin (Hjv(-/-)), a gene mutated in juvenile hemochromatosis, a disease of hepcidin deficiency and iron overload, were generated. While Tf(hpx/hpx) Hjv(+/+) and Tf(hpx/hpx) Hjv(-/-) phenotypes did not differ markedly, transferrin treatment and RBC transfusions robustly increased hepcidin levels in Tf(hpx/hpx) Hjv(+/+) but not Tf(hpx/hpx) Hjv(-/-)mice. These results suggest that, while hemojuvelin is not essential for the establishment or maintenance of hepcidin deficiency in transferrin-deficient mice, hemojuvelin is essential for transferrin-dependent and transferrin-independent hepcidin expression in conditions of iron overload.
Links	PubMed PMC3269476 Online version:10.3324/haematol.2011.054031
Keywords	Animals; Antimicrobial Cationic Peptides/genetics; Antimicrobial Cationic Peptides/metabolism; Gene Expression Regulation; Iron Overload/genetics; Iron Overload/metabolism; Membrane Proteins/deficiency; Membrane Proteins/genetics; Mice; Mice, Inbred BALB C; Mice, Inbred C57BL; Mice, Knockout; Transferrin/deficiency; Transferrin/genetics
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Annotations

Gene product	Qualifier	GO Term	Evidence Code	with/from	Aspect	Extension	Notes	Status
MOUSE:RGMC		GO:0055072: iron ion homeostasis	ECO:0000316:	UniProtKB:Q63916	P		Figure 1	complete CACAO 5131
MOUSE:RGMC	involved_in	GO:0055072: iron ion homeostasis	ECO:0000316: genetic interaction evidence used in manual assertion	UniProtKB:Q63916	P		Seeded From UniProt	complete

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