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

Transcriptional control of skeletogenesis.

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Department of Genetics and Development, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.


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.

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