Schoenmakers E F, Huysmans C, Van de Ven W J
Laboratory for Molecular Oncology, Center for Human Genetics, University of Leuven, and Flanders Interuniversity Institute for Biotechnology, Belgium.
Cancer Res. 1999 Jan 1;59(1):19-23.
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.
最近，高迁移率族蛋白基因HMGIC在多种良性实体瘤中被鉴定为12q15染色体的靶基因。在此，我们报告14q23 - 24染色体上的重组修复基因RAD51B是子宫平滑肌瘤中HMGIC的优先易位伴侣。致病关键序列似乎位于一种新型RAD51B异构体的最后一个编码外显子中，该外显子编码一个包含假定跨膜锚定结构域的区域，在子宫中表达，但在多种其他测试组织中不表达。通过荧光原位杂交、3' cDNA末端的快速扩增以及逆转录 - PCR分析，我们证明了RAD51B内一致的染色体重排以及融合转录本的表达，在结构上导致RAD51B子宫异构体的等位基因敲除，并证实了该基因的多效性功能。
