Department of Molecular Genetics and Microbiology, Duke University, Durham, NC 27710, USA.
Genetics. 2023 Aug 31;225(1). doi: 10.1093/genetics/iyad122.
A targeted double-strand break introduced into the genome of Saccharomyces cerevisiae is repaired by the relatively error-prone nonhomologous end joining (NHEJ) pathway when homologous recombination is not an option. A zinc finger nuclease cleavage site was inserted out-of-frame into the LYS2 locus of a haploid yeast strain to study the genetic control of NHEJ when the ends contain 5' overhangs. Repair events that destroyed the cleavage site were identified either as Lys+ colonies on selective medium or as surviving colonies on rich medium. Junction sequences in Lys+ events solely reflected NHEJ and were influenced by the nuclease activity of Mre11 as well as by the presence/absence of the NHEJ-specific polymerase Pol4 and the translesion-synthesis DNA polymerases Pol ζ and Pol η. Although most NHEJ events were dependent on Pol4, a 29-bp deletion with endpoints in 3-bp repeats was an exception. The Pol4-independent deletion required translesion synthesis polymerases as well as the exonuclease activity of the replicative Pol δ DNA polymerase. Survivors were equally split between NHEJ events and 1.2 or 11.7 kb deletions that reflected microhomology-mediated end joining (MMEJ). MMEJ events required the processive resection activity of Exo1/Sgs1, but there unexpectedly was no dependence on the Rad1-Rad10 endonuclease for the removal of presumptive 3' tails. Finally, NHEJ was more efficient in nongrowing than in growing cells and was most efficient in G0 cells. These studies provide novel insights into the flexibility and complexity of error-prone DSB repair in yeast.
当同源重组不可行时,酵母细胞中的靶向双链断裂可通过相对易错的非同源末端连接(NHEJ)途径进行修复。锌指核酸酶的切割位点被插入到酵母单倍体菌株的 LYS2 基因座的框架外,以研究当末端含有 5'突出时 NHEJ 的遗传控制。通过选择性培养基上的 Lys+ 菌落或丰富培养基上的存活菌落来鉴定破坏切割位点的修复事件。Lys+ 事件中的连接序列仅反映了 NHEJ,并且受到 Mre11 的核酸酶活性以及 NHEJ 特异性聚合酶 Pol4 的存在/不存在以及跨损伤合成 DNA 聚合酶 Pol ζ 和 Pol η 的影响。尽管大多数 NHEJ 事件依赖于 Pol4,但具有 3 个碱基重复的 29 个碱基对缺失是一个例外。Pol4 非依赖性缺失需要跨损伤合成聚合酶以及复制 Pol δ DNA 聚合酶的外切核酸酶活性。幸存者在 NHEJ 事件和反映微同源介导末端连接(MMEJ)的 1.2 或 11.7 kb 缺失之间平均分配。MMEJ 事件需要 Exo1/Sgs1 的连续切除活性,但出乎意料的是,Rad1-Rad10 内切酶对于去除假定的 3' 尾巴没有依赖性。最后,非生长细胞中的 NHEJ 比生长细胞更有效,在 G0 细胞中效率最高。这些研究为酵母中易错 DSB 修复的灵活性和复杂性提供了新的见解。