Structure, expression and mutational analysis of the hBRAG gene on 10q in the frequently deleted region in human endometrial cancer.

We previously reported that chromosome arm 10q is one of the target regions of allelic loss in human endometrial cancer. To identify the gene in this region responsible for endometrial cancer, we further characterized this region and localized the liBRAG gene. The function of hBRAG has not yet been fully studied, and there is the possibility that this gene works as a tumor suppressor. This gene consist of 7 exons and 6 introns encoding 503 amino acids; all the introns start with GT and end with AG in agreement with the GT-AG rule. Expression of this gene was studied by Northern hybridization and suppressed expression was observed in one (SK-UT-1B) of the six endometrial cancer cell lines. Mutation analysis in 38 primary EC tissues and six EC cell lines disclosed no genetic alterations. The genomic structure of hBRAG elucidated in this study should contribute to the future analysis of the hBRAG gene.