New developments in bone formation.
Two independent strategies have established that the transcription factor, Cbfa1, is a key regulator of both osteoblast differentiation and osteoblast-specific gene expression. Gene targeting experiments in mice have also shown that haploinsufficiency of Cbfa1 expression causes symptoms reminiscent of the Cleidocranial dysplasia syndrome (CCD), a heritable disorder of the skeleton. Direct analysis of the Cbfa1 gene in CCD families has revealed a direct correlation between mutations in this gene and disease phenotype.
Owen
M J
MJ
Imperial Cancer Research Fund, London, UK. owenm@crf.icnet.uk
Karsenty
G
G
D000818:Animals; D001846:Bone Development / Q000235:genetics*; D002455:Cell Division / Q000235:genetics / Q000502:physiology; D050659:Core Binding Factor Alpha 1 Subunit; D006801:Humans; D009363:Neoplasm Proteins; D010006:Osteoblasts / Q000166:cytology / Q000502:physiology; D014157:Transcription Factors / Q000235:genetics*
D050659:Core Binding Factor Alpha 1 Subunit; D009363:Neoplasm Proteins; D014157:Transcription Factors