The serine protease TMPRSS6 is required to sense iron deficiency

Science. 2008 May 23;320(5879):1088-92. doi: 10.1126/science.1157121. Epub 2008 May 1.

Abstract

Hepcidin, a liver-derived protein that restricts enteric iron absorption, is the key regulator of body iron content. Several proteins induce expression of the hepcidin-encoding gene Hamp in response to infection or high levels of iron. However, mechanism(s) of Hamp suppression during iron depletion are poorly understood. We describe mask: a recessive, chemically induced mutant mouse phenotype, characterized by progressive loss of body (but not facial) hair and microcytic anemia. The mask phenotype results from reduced absorption of dietary iron caused by high levels of hepcidin and is due to a splicing defect in the transmembrane serine protease 6 gene Tmprss6. Overexpression of normal TMPRSS6 protein suppresses activation of the Hamp promoter, and the TMPRSS6 cytoplasmic domain mediates Hamp suppression via proximal promoter element(s). TMPRSS6 is an essential component of a pathway that detects iron deficiency and blocks Hamp transcription, permitting enhanced dietary iron absorption.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Macrocytic / genetics
  • Anemia, Macrocytic / metabolism
  • Animals
  • Antimicrobial Cationic Peptides / genetics*
  • Antimicrobial Cationic Peptides / metabolism
  • Cell Line, Tumor
  • Gene Expression Regulation
  • Hepcidins
  • Humans
  • Iron / blood
  • Iron / metabolism
  • Iron Deficiencies*
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism*
  • Mice
  • Mice, Mutant Strains
  • Mice, Transgenic
  • Models, Biological
  • Mutation
  • Phenotype
  • Promoter Regions, Genetic
  • Protein Structure, Tertiary
  • Serine Endopeptidases / chemistry
  • Serine Endopeptidases / genetics
  • Serine Endopeptidases / metabolism*
  • Signal Transduction
  • Transfection

Substances

  • Antimicrobial Cationic Peptides
  • HAMP protein, human
  • Hamp protein, mouse
  • Hepcidins
  • Membrane Proteins
  • Iron
  • Serine Endopeptidases
  • TMPRSS6 protein, human
  • matriptase 2