Genome Stability Unit, St. Vincent's Institute of Medical Research, Fitzroy, VIC, 3056, Australia.
Genome Stability Unit, St. Vincent's Institute of Medical Research, Fitzroy, VIC, 3056, Australia; Department of Medicine (St Vincent's), University of Melbourne, Fitzroy, VIC, 3056, Australia.
Structure. 2021 Feb 4;29(2):99-113. doi: 10.1016/j.str.2020.11.020. Epub 2020 Dec 22.
The Bloom syndrome complex is a DNA damage repair machine. It consists of several protein components which are functional in isolation, but interdependent in cells for the maintenance of accurate homologous recombination. Mutations to any of the genes encoding these proteins cause numerous physical and developmental markers as well as phenotypes of genome instability, infertility, and cancer predisposition. Here we review the published structural and biochemical data on each of the components of the complex: the helicase BLM, the type IA topoisomerase TOP3A, and the OB-fold-containing RMI and RPA subunits. We describe how each component contributes to function, interacts with each other, and the DNA that it manipulates/repairs.
布卢姆综合征复合物是一种 DNA 损伤修复机器。它由几个蛋白成分组成，这些蛋白成分在功能上是独立的，但在细胞中为维持准确的同源重组是相互依赖的。编码这些蛋白的任何基因突变都会导致多种身体和发育标记物，以及基因组不稳定性、不育和癌症易感性的表型。在这里，我们回顾了复合物的每个成分的已发表的结构和生化数据：解旋酶 BLM、IA 型拓扑异构酶 TOP3A，以及含有 OB 折叠的 RMI 和 RPA 亚基。我们描述了每个成分如何贡献功能，相互作用以及它所操作/修复的 DNA。
