Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function.
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.
Geoffroy
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V
Department of Molecular Genetics, University of Texas M.D. Anderson Cancer Center, Houston 77030, USA.
Corral
D A
DA
Zhou
L
L
Lee
B
B
Karsenty
G
G
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*
D050659:Core Binding Factor Alpha 1 Subunit; D009363:Neoplasm Proteins; D014157:Transcription Factors