title: Allelic knockout of novel splice variants of human recombination repair gene RAD51B in t(12;14) uterine leiomyomas.
abstract: Recently, the high mobility group protein gene HMGIC was identified as the chromosome 12q15 target gene in a variety of benign solid tumors. Here, we report that the recombinational repair gene RAD51B on chromosome 14q23-24 is the preferential translocation partner of HMGIC in uterine leiomyomas. The pathogenetically critical sequences seem to reside in the last coding exon of a novel RAD51B isoform, which encode a domain containing a putative transmembrane anchor and are expressed in the uterus but not in a wide variety of other tissues tested. By fluorescence in situ hybridization, rapid amplification of 3' cDNA ends, and reverse transcription-PCR analysis, we demonstrated consistent chromosomal rearrangements within RAD51B and expression of fusion transcripts, structurally resulting in an allelic knockout of the uterine isoform of RAD51B and confirming a pleiotropic function of this gene.
authors.affiliation: Laboratory for Molecular Oncology, Center for Human Genetics, University of Leuven, and Flanders Interuniversity Institute for Biotechnology, Belgium.
authors.forename: E F
authors.initials: EF
authors.lastname: Schoenmakers
authors.forename: C
authors.initials: C
authors.lastname: Huysmans
authors.forename: W J
authors.initials: WJ
authors.lastname: Van de Ven
mesh_terms: D002881:Chromosomes, Human, Pair 12; D002883:Chromosomes, Human, Pair 14; D004260:DNA Repair; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007889:Leiomyoma / Q000235:genetics*; D019656:Loss of Heterozygosity; D012326:RNA Splicing; D051135:Rad51 Recombinase; D011995:Recombination, Genetic; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured; D014594:Uterine Neoplasms / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C495153:RAD51 protein, human; D051135:Rad51 Recombinase