Sekiguchi JoAnn M, Ferguson David O
Department of Internal Medicine, The University of Michigan Comprehensive Cancer Center, The University of Michigan Medical School, Ann Arbor, 48109, USA
Cell. 2006 Jan 27;124(2):260-2. doi: 10.1016/j.cell.2006.01.010.
A major pathway for repair of DNA double-strand breaks is nonhomologous end-joining (NHEJ). In this issue of Cell, and report the discovery of a new NHEJ factor called Cernunnos-XLF. Both groups report that this protein is mutated in a rare inherited human syndrome characterized by severe immunodeficiency, developmental delay, and hypersensitivity to agents that cause DNA double-strand breaks.
DNA双链断裂修复的一条主要途径是非同源末端连接(NHEJ)。在本期《细胞》杂志中,[研究团队名称]报道了一种名为Cernunnos-XLF的新NHEJ因子的发现。两个研究小组均报告称,这种蛋白质在一种罕见的遗传性人类综合征中发生了突变,该综合征的特征为严重免疫缺陷、发育迟缓以及对导致DNA双链断裂的试剂高度敏感。