Two independent strategies have established that the transcription fac
tor, Cbfa1, is a key regulator of both osteoblast differentiation and
osteoblast-specific gene expression. Gene targeting experiments in mic
e have also shown that haploinsufficiency of Cbfa1 expression causes s
ymptoms reminiscent of the Cleidocranial dysplasia syndrome (CCD), a h
eritable disorder of the skeleton. Direct analysis of the Cbfa1 gene i
n CCD families has revealed a direct correlation between mutations in
this gene and disease phenotype. Curr Opin Nephrol Hypertens 7;363-366
. (C) 1998 Lippincott-Raven Publishers.