Alterations of BMP signaling pathway(s) in skeletal diseases

  • Petra Seemann
  • Stefan Mundlos
  • Katarina Lehmann
Part of the Progress in Inflammation Research book series (PIR)


The existence of bone morphogenetic proteins (BMPs) was postulated by Urist already in 1965 based on the observation that dematerialized bone matrix is able to induce bone formation when transplanted into the muscle of rabbits or rats [1]. Because heat-denatured samples did not show this effect, he concluded that the inducing substance had to be a protein and suggested the name ‚bone morphogenetic protein’. It took 20 more years after that pioneering observation to actually prove this theory. The first report on purification of a BMP was in 1988 by Elizabeth Wang and colleagues [2] and soon thereafter a series of ground-breaking discoveries followed. BMPs were either purified or cloned from cartilage and/or bone [3, 4, 5, 6, 7, 8, 9]. It turned out that the different BMPs are quite homologous to each other and structurally related to TGF-β proteins [6, 10, 11]. Due to their similarities they were classified as the TGF-β superfamily with a large subgroup of proteins named BMPs and growth and differentiation factors (GDFs). With a few exceptions, BMPs and GDFs are capable of inducing ectopic bone and or cartilage formation in vitro and in vivo.


Bone Morphogenetic Protein Splice Site Mutation Skeletal Disease Induce Bone Formation Specific Protein Protein Interaction 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Birkhäuser Verlag Basel/Switzerland 2008

Authors and Affiliations

  • Petra Seemann
    • 1
  • Stefan Mundlos
    • 1
    • 2
  • Katarina Lehmann
    • 2
  1. 1.Max-Planck-Institut für Molekulare Genetik, Research Group Development & DiseaseBerlinGermany
  2. 2.Institut für Medizinische GenetikUniversitätsmedizin Berlin, CharitéBerlinGermany

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