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.

Dysplasia

---

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.

Growth, Developmental genetics, Bone development

---

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.

Genetic transcription, Transcription (Genetics)

Similar abstracts:

• Abstracts: Regulatory systems modulating the transcription of the pectinase gens of Erwinia chrysanthemi are conserved in Escherichia coli
• Abstracts: Efficient transformation of Lactobacillus sake by electroporation. Carbohydrate utilization in Lactobacillus sake
• Abstracts: Initial transformations in the biodegradation of benzothiazoles by Rhodococcus isolates. Formation of a chiral hydroxamic acid with an amidase from Rhodococcus erythropolis MP50 and subsequent chemical lossen rearrangement to a chiral amine
• Abstracts: Identification of the Abl- and rasGAP-associated 62 kDa protein as a docking protein, Dok. Proteases for cell suicide: functions and regulation of caspases

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.