Mutations involving the transcription factor Cbfa1 cause cleidocranial dysplasia
Article Abstract:
The functional role of the CBFA1 protein in bone formation and bone cell differentiation was analyzed in mice exhibiting CBFA1 mutations. Mutations within the CBFA1 of mice led to the inhibition of bone formation and boned cell division. The effects of CBFA1 mutations were also similar to the symptoms of cleidocranial dysplasia which was characterized as an autosomal-dominant abnormality in humans. Furthermore, the heterozygous expression of the Cbfa1 gene was induced similar abnormalities in bone development.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1997
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Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development
Article Abstract:
The role of Cbfa1 genes in the progression of bone differentiation and osteogenesis was analyzed in Cbfa1-deficient mice. Southern blot analysis of the Cbfa1-mutant mice indicated the presence of inhibited osteoblast development from the mesenchyme. Mutations in the Cbfa1 gene also prevented bone formation during the early stages of ossification. On the other hand, heterozygous Cbfa1 mutant mice exhibited abnormal skeletal development that was similar to the symptoms of cleidocranial dysplasia syndrome.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1997
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Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation
Article Abstract:
The Osf2/Cbfa1 transcriptional protein was cloned and analyzed to characterize its role in the differentiation of bone cells during osteogenesis. Northern blot analysis of the cloned Osf2/Cbfa1 binding protein indicated its ability to bind and modulate the expression of specific genes that mediate osteoblast differentiation. The transcriptional activator was also charcaterized as the primary regulator of bone cell differentiation.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1997
User Contributions:
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