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    Mamm Genome. 1998 Jan;9(1):54-7.

    Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function.

    Geoffroy V, Corral DA, Zhou L, Lee B, Karsenty G.

    Department of Molecular Genetics, University of Texas M.D. Anderson Cancer Center, Houston 77030, USA.

    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.

    PMID: 9434946 [PubMed - indexed for MEDLINE]

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