Transcriptional control of skeletogenesis

Annu Rev Genomics Hum Genet. 2008;9:183-96. doi: 10.1146/annurev.genom.9.081307.164437.


The skeleton contains three specific cell types: chondrocytes in cartilage and osteoblasts and osteoclasts in bone. Our understanding of the transcriptional mechanisms that lead to cell differentiation along these three lineages has increased considerably in the past ten years. In the case of chondrocytes and osteoblasts advances have been made possible largely through the molecular elucidation of human skeletal dysplasias. This review discusses the key transcription factors that regulate skeletogenesis and highlights their function, mode of action, and regulation by other factors, with a special emphasis on how human genetics has contributed to this knowledge.

Publication types

  • Review

MeSH terms

  • Activating Transcription Factor 4 / genetics
  • Animals
  • Bone Development / genetics*
  • Bone Diseases, Developmental / genetics
  • Cell Differentiation / genetics
  • Chondrogenesis / genetics
  • Core Binding Factor Alpha 1 Subunit / genetics
  • Humans
  • Mice
  • Models, Genetic
  • Osteoblasts / cytology
  • Osteoblasts / metabolism
  • Osteogenesis / genetics
  • Sp7 Transcription Factor
  • Transcription Factor AP-1 / genetics
  • Transcription Factors / genetics
  • Transcription, Genetic


  • ATF4 protein, human
  • Atf4 protein, mouse
  • Core Binding Factor Alpha 1 Subunit
  • RUNX2 protein, human
  • Runx2 protein, mouse
  • Sp7 Transcription Factor
  • Sp7 protein, mouse
  • Transcription Factor AP-1
  • Transcription Factors
  • Activating Transcription Factor 4