Targeted disruption of the hepcidin 1 gene results in severe hemochromatosis

Blood. 2006 Aug 15;108(4):1402-5. doi: 10.1182/blood-2006-02-003376. Epub 2006 Mar 30.

Abstract

We previously reported that mice made deficient for the transcriptional factor USF2 fail to express hepcidin 1 and hepcidin 2 genes as a consequence of targeted disruption of the Usf2 gene lying just upstream in the locus. These mice developed an iron overload phenotype with excess iron deposition in parenchymal cells and decreased reticuloendothelial iron. At that time, although the role of USF2 was still confounding, we proposed for the first time the role of hepcidin as a negative regulator of iron absorption and iron release from macrophages. Accordingly, we subsequently demonstrated that hyperexpression of hepcidin 1, but not hepcidin 2, resulted in a profound hyposideremic anemia. To analyze the consequences of hepcidin 1 deletion on iron metabolism without any disturbance due to USF2 deficiency, we disrupted the hepcidin 1 gene by targeting almost all the coding region. Confirming our prior results, Hepc1(-/-) mice developed early and severe multivisceral iron overload, with sparing of the spleen macrophages, and demonstrated increased serum iron and ferritin levels as compared with their controls.

Publication types

  • Comparative Study

MeSH terms

  • Animals
  • Antimicrobial Cationic Peptides / deficiency*
  • Antimicrobial Cationic Peptides / metabolism
  • Ferritins / metabolism
  • Gene Deletion*
  • Hemochromatosis / genetics*
  • Hemochromatosis / metabolism
  • Hemochromatosis / pathology
  • Hepcidins
  • Iron / metabolism
  • Macrophages / metabolism
  • Macrophages / pathology
  • Mice
  • Mice, Knockout
  • Open Reading Frames / genetics*
  • Quantitative Trait Loci / genetics*
  • Spleen / metabolism
  • Spleen / pathology
  • Upstream Stimulatory Factors / deficiency
  • Upstream Stimulatory Factors / metabolism

Substances

  • Antimicrobial Cationic Peptides
  • Hamp protein, mouse
  • Hepcidins
  • Upstream Stimulatory Factors
  • Usf2 protein, mouse
  • Ferritins
  • Iron