Rijkers T, Van Den Ouweland J, Morolli B, Rolink A G, Baarends W M, Van Sloun P P, Lohman P H, Pastink A
MGC-Department of Radiation Genetics and Chemical Mutagenesis, Leiden University Medical Center, Leiden, The Netherlands.
Mol Cell Biol. 1998 Nov;18(11):6423-9. doi: 10.1128/MCB.18.11.6423.
The RAD52 epistasis group is required for recombinational repair of double-strand breaks (DSBs) and shows strong evolutionary conservation. In Saccharomyces cerevisiae, RAD52 is one of the key members in this pathway. Strains with mutations in this gene show strong hypersensitivity to DNA-damaging agents and defects in recombination. Inactivation of the mouse homologue of RAD52 in embryonic stem (ES) cells resulted in a reduced frequency of homologous recombination. Unlike the yeast Scrad52 mutant, MmRAD52(-/-) ES cells were not hypersensitive to agents that induce DSBs. MmRAD52 null mutant mice showed no abnormalities in viability, fertility, and the immune system. These results show that, as in S. cerevisiae, MmRAD52 is involved in recombination, although the repair of DNA damage is not affected upon inactivation, indicating that MmRAD52 may be involved in certain types of DSB repair processes and not in others. The effect of inactivating MmRAD52 suggests the presence of genes functionally related to MmRAD52, which can partly compensate for the absence of MmRad52 protein.
RAD52上位性基因群对于双链断裂(DSB)的重组修复是必需的,并且显示出很强的进化保守性。在酿酒酵母中,RAD52是该途径的关键成员之一。该基因发生突变的菌株对DNA损伤剂表现出强烈的超敏感性,并且在重组方面存在缺陷。胚胎干细胞(ES)中RAD52小鼠同源物的失活导致同源重组频率降低。与酵母Scrad52突变体不同,MmRAD52(-/-) ES细胞对诱导DSB的试剂不具有超敏感性。MmRAD52基因敲除突变小鼠在活力、生育力和免疫系统方面没有异常。这些结果表明,与酿酒酵母一样,MmRAD52参与重组,尽管失活后DNA损伤的修复不受影响,这表明MmRAD52可能参与某些类型的DSB修复过程,而不参与其他过程。MmRAD52失活的影响表明存在与MmRAD52功能相关的基因,它们可以部分补偿MmRad52蛋白的缺失。