Bone morphogenetic protein (BMP)-responsive elements located in the proximal and distal hepcidin promoter are critical for its response to HJV/BMP/SMAD

J Mol Med (Berl). 2009 May;87(5):471-80. doi: 10.1007/s00109-009-0447-2. Epub 2009 Feb 20.

Abstract

The hemochromatosis proteins HFE, transferrin receptor 2 (TfR2) and hemojuvelin (HJV, HFE2) positively control expression of the major iron regulatory hormone hepcidin. HJV is a bone morphogenetic protein (BMP) co-receptor that enhances the cellular response to BMP cytokines via the phosphorylation of SMAD proteins. In this study, we show that two highly conserved and sequence-identical BMP-responsive elements located at positions -84/-79 (BMP-RE1) and -2,255/-2,250 (BMP-RE2) of the human hepcidin promoter are critical for both the basal hepcidin mRNA expression and the hepcidin response to BMP-2 and BMP-6. While BMP-RE1 and BMP-RE2 show additive effects in responding to HJV-mediated BMP signals, only BMP-RE1 that is located in close proximity to a previously identified STAT-binding site is important for the hepcidin response to IL-6. These data identify a missing link between the HJV/BMP signaling pathways and hepcidin transcription, and further define the connection between inflammation and BMP-dependent hepcidin promoter activation. As such, they provide important new information furthering our understanding of disorders of iron metabolism and the anemia of inflammation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antimicrobial Cationic Peptides / genetics*
  • Base Sequence
  • Binding Sites / genetics
  • Bone Morphogenetic Protein 2 / pharmacology
  • Bone Morphogenetic Protein 6 / pharmacology
  • Bone Morphogenetic Proteins / pharmacology*
  • Cell Line, Tumor
  • GPI-Linked Proteins
  • Gene Expression Regulation / drug effects
  • Hemochromatosis Protein
  • Hepcidins
  • Humans
  • Interleukin-6 / pharmacology
  • Luciferases / genetics
  • Luciferases / metabolism
  • Membrane Proteins / metabolism
  • Molecular Sequence Data
  • Phosphorylation
  • Promoter Regions, Genetic / genetics*
  • RNA, Small Interfering / genetics
  • Recombinant Fusion Proteins / genetics
  • Recombinant Fusion Proteins / metabolism
  • Response Elements / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • STAT Transcription Factors / metabolism
  • Sequence Homology, Nucleic Acid
  • Smad Proteins / metabolism
  • Transfection

Substances

  • Antimicrobial Cationic Peptides
  • BMP2 protein, human
  • Bone Morphogenetic Protein 2
  • Bone Morphogenetic Protein 6
  • Bone Morphogenetic Proteins
  • GPI-Linked Proteins
  • HAMP protein, human
  • HJV protein, human
  • Hemochromatosis Protein
  • Hepcidins
  • Interleukin-6
  • Membrane Proteins
  • RNA, Small Interfering
  • Recombinant Fusion Proteins
  • STAT Transcription Factors
  • Smad Proteins
  • Luciferases