Corneo Barbara, Wendland Rebecca L, Deriano Ludovic, Cui Xiaoping, Klein Isaac A, Wong Serre-Yu, Arnal Suzzette, Holub Abigail J, Weller Geoffrey R, Pancake Bette A, Shah Sundeep, Brandt Vicky L, Meek Katheryn, Roth David B
The Kimmel Center for Biology and Medicine of the Skirball Institute and Department of Pathology, New York University School of Medicine, New York, New York 10016, USA.
Nature. 2007 Sep 27;449(7161):483-6. doi: 10.1038/nature06168.
Mammalian cells repair DNA double-strand breaks (DSBs) through either homologous recombination or non-homologous end joining (NHEJ). V(D)J recombination, a cut-and-paste mechanism for generating diversity in antigen receptors, relies on NHEJ for repairing DSBs introduced by the Rag1-Rag2 protein complex. Animals lacking any of the seven known NHEJ factors are therefore immunodeficient. Nevertheless, DSB repair is not eliminated entirely in these animals: evidence of a third mechanism, 'alternative NHEJ', appears in the form of extremely rare V(D)J junctions and a higher rate of chromosomal translocations. The paucity of these V(D)J events has suggested that alternative NHEJ contributes little to a cell's overall repair capacity, being operative only (and inefficiently) when classical NHEJ fails. Here we find that removing certain portions of murine Rag proteins reveals robust alternative NHEJ activity in NHEJ-deficient cells and some alternative joining activity even in wild-type cells. We propose a two-tier model in which the Rag proteins collaborate with NHEJ factors to preserve genomic integrity during V(D)J recombination.
哺乳动物细胞通过同源重组或非同源末端连接(NHEJ)来修复DNA双链断裂(DSB)。V(D)J重组是一种在抗原受体中产生多样性的剪切粘贴机制,它依靠NHEJ来修复由Rag1-Rag2蛋白复合物引入的DSB。因此,缺乏七种已知NHEJ因子中任何一种的动物都存在免疫缺陷。然而,在这些动物中DSB修复并未完全消除:第三种机制“替代NHEJ”的证据以极其罕见的V(D)J连接和更高频率的染色体易位的形式出现。这些V(D)J事件的稀少表明替代NHEJ对细胞的整体修复能力贡献不大,仅在经典NHEJ失败时(且效率低下)起作用。我们发现,去除小鼠Rag蛋白的某些部分会在NHEJ缺陷细胞中揭示强大的替代NHEJ活性,甚至在野生型细胞中也存在一些替代连接活性。我们提出了一个两层模型,其中Rag蛋白与NHEJ因子协作,在V(D)J重组过程中维持基因组完整性。