McVey Mitch, Adams Melissa, Staeva-Vieira Eric, Sekelsky Jeff J
SPIRE Program, University of North Carolina, Chapel Hill, 27599, USA.
Genetics. 2004 Jun;167(2):699-705. doi: 10.1534/genetics.103.025411.
DNA double-strand breaks (DSBs), a major source of genome instability, are often repaired through homologous recombination pathways. Models for these pathways have been proposed, but the precise mechanisms and the rules governing their use remain unclear. In Drosophila, the synthesis-dependent strand annealing (SDSA) model can explain most DSB repair. To investigate SDSA, we induced DSBs by excision of a P element from the male X chromosome, which produces a 14-kb gap relative to the sister chromatid. In wild-type males, repair synthesis tracts are usually long, resulting in frequent restoration of the P element. However, repair synthesis is often incomplete, resulting in internally deleted P elements. We examined the effects of mutations in spn-A, which encodes the Drosophila Rad51 ortholog. As expected, there is little or no repair synthesis in homozygous spn-A mutants after P excision. However, heterozygosity for spn-A mutations also resulted in dramatic reductions in the lengths of repair synthesis tracts. These findings support a model in which repair DNA synthesis is not highly processive. We discuss a model wherein repair of a double-strand gap requires multiple cycles of strand invasion, synthesis, and dissociation of the nascent strand. After dissociation, the nascent strand may anneal to a complementary single strand, reinvade a template to be extended by additional synthesis, or undergo end joining. This model can explain aborted SDSA repair events and the prevalence of internally deleted transposable elements in genomes.
DNA双链断裂(DSBs)是基因组不稳定的主要来源,通常通过同源重组途径进行修复。已经提出了这些途径的模型,但精确机制及其使用规则仍不清楚。在果蝇中,依赖合成的链退火(SDSA)模型可以解释大多数DSB修复。为了研究SDSA,我们通过从雄性X染色体上切除P元件来诱导DSB,相对于姐妹染色单体,这会产生一个14kb的缺口。在野生型雄性中,修复合成片段通常很长,导致P元件频繁恢复。然而,修复合成往往不完整,导致内部缺失的P元件。我们研究了spn-A突变的影响,spn-A编码果蝇Rad51的直系同源物。正如预期的那样,P切除后纯合spn-A突变体中几乎没有或没有修复合成。然而,spn-A突变的杂合性也导致修复合成片段长度显著减少。这些发现支持了一个模型,即修复DNA合成不是高度连续的。我们讨论了一个模型,其中双链缺口的修复需要新生链的多次链侵入、合成和解离循环。解离后,新生链可能与互补单链退火,重新侵入模板以通过额外合成进行延伸,或进行末端连接。这个模型可以解释SDSA修复事件的失败以及基因组中内部缺失的转座元件的普遍性。