title: Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function.
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.
authors.affiliation: Department of Molecular Genetics, University of Texas M.D. Anderson Cancer Center, Houston 77030, USA.
authors.forename: V
authors.initials: V
authors.lastname: Geoffroy
authors.forename: D A
authors.initials: DA
authors.lastname: Corral
authors.forename: L
authors.initials: L
authors.lastname: Zhou
authors.forename: B
authors.initials: B
authors.lastname: Lee
authors.forename: G
authors.initials: G
authors.lastname: Karsenty
mesh_terms: D017398:Alternative Splicing; D050659:Core Binding Factor Alpha 1 Subunit; D005091:Exons; D015870:Gene Expression; D015894:Genome, Human; D006801:Humans; D009363:Neoplasm Proteins; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism*
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; D009363:Neoplasm Proteins; D014157:Transcription Factors