Abstract
The Cbfa1 gene, which encodes the transcription factor Osf2/Cbfa1 required for osteoblast differentiation in mouse and human, is mutated in cleidocranial dysplasia, a skeletal dysplasia. We describe here the isolation of the full-length human OSF2/ CBFA1 cDNAs, the genomic organization of the entire CBFA1 gene, its expression, and the existence of an alternative splicing event. Nucleotide sequence analysis of the human and mouse OSF2/CBFA1 cDNAs showed a 98% homology in the coding sequence and 96% in the 5′ untranslated (UTR) sequence. Analysis of CBFA1 genomic clones revealed that the 5′ UTR sequence of the human OSF2/CBFA1 cDNA lies 75 kb upstream of the originally described 5′ end of the gene. The existence of two OSF2/CBFA1 cDNAs is due to an alternative splicing event around exon 8 that affects the transcriptional activity of the protein. Northern blot analysis demonstrates that the expression of the human OSF2/CBFA1 gene is restricted to osteoblastic cells.
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Geoffroy, V., Corral, D.A., Zhou, L. et al. Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function. Mammalian Genome 9, 54–57 (1998). https://doi.org/10.1007/s003359900679
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DOI: https://doi.org/10.1007/s003359900679