Essers J, Hendriks R W, Swagemakers S M, Troelstra C, de Wit J, Bootsma D, Hoeijmakers J H, Kanaar R
Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands.
Cell. 1997 Apr 18;89(2):195-204. doi: 10.1016/s0092-8674(00)80199-3.
Double-strand DNA break (DSB) repair by homologous recombination occurs through the RAD52 pathway in Saccharomyces cerevisiae. Its biological importance is underscored by the conservation of many RAD52 pathway genes, including RAD54, from fungi to humans. We have analyzed the phenotype of mouse RAD54-/- (mRAD54-/-) cells. Consistent with a DSB repair defect, these cells are sensitive to ionizing radiation, mitomycin C, and methyl methanesulfonate, but not to ultraviolet light. Gene targeting experiments demonstrate that homologous recombination in mRAD54-/- cells is reduced compared to wild-type cells. These results imply that, besides DNA end-joining mediated by DNA-dependent protein kinase, homologous recombination contributes to the repair of DSBs in mammalian cells. Furthermore, we show that mRAD54-/- mice are viable and exhibit apparently normal V(D)J and immunoglobulin class-switch recombination. Thus, mRAD54 is not required for the recombination processes that generate functional immunoglobulin and T cell receptor genes.
酿酒酵母中通过同源重组进行的双链DNA断裂(DSB)修复是通过RAD52途径发生的。从真菌到人类,包括RAD54在内的许多RAD52途径基因的保守性突出了其生物学重要性。我们分析了小鼠RAD54-/-(mRAD54-/-)细胞的表型。与DSB修复缺陷一致,这些细胞对电离辐射、丝裂霉素C和甲基磺酸甲酯敏感,但对紫外线不敏感。基因靶向实验表明,与野生型细胞相比,mRAD54-/-细胞中的同源重组减少。这些结果表明,除了由DNA依赖性蛋白激酶介导的DNA末端连接外,同源重组也有助于哺乳动物细胞中DSB的修复。此外,我们表明mRAD54-/-小鼠是可存活的,并且表现出明显正常的V(D)J和免疫球蛋白类别转换重组。因此,mRAD54对于产生功能性免疫球蛋白和T细胞受体基因的重组过程不是必需的。