Institut de Génétique Humaine, UPR1142, CNRS, 34396 Montpellier Cedex 5, France.
Genes Dev. 2010 Jun 15;24(12):1266-80. doi: 10.1101/gad.571710.
Meiotic recombination is initiated by the programmed induction of DNA double-strand breaks (DSBs) catalyzed by the evolutionarily conserved Spo11 protein. Studies in yeast have shown that DSB formation requires several other proteins, the role and conservation of which remain unknown. Here we show that two of these Saccharomyces cerevisiae proteins, Mei4 and Rec114, are evolutionarily conserved in most eukaryotes. Mei4(-/-) mice are deficient in meiotic DSB formation, thus showing the functional conservation of Mei4 in mice. Cytological analyses reveal that, in mice, MEI4 is localized in discrete foci on the axes of meiotic chromosomes that do not overlap with DMC1 and RPA foci. We thus propose that MEI4 acts as a structural component of the DSB machinery that ensures meiotic DSB formation on chromosome axes. We show that mouse MEI4 and REC114 proteins interact directly, and we identify conserved motifs as required for this interaction. Finally, the unexpected, concomitant absence of Mei4 and Rec114, as well as of Mnd1, Hop2, and Dmc1, in some eukaryotic species (particularly Neurospora crassa, Drosophila melanogaster, and Caenorhabditis elegans) suggests the existence of Mei4-Rec114-dependent and Mei4-Rec114-independent mechanisms for DSB formation, and a functional relationship between the chromosome axis and DSB formation.
减数分裂重组是由进化上保守的 Spo11 蛋白催化的 DNA 双链断裂 (DSB) 的程序性诱导启动的。酵母的研究表明,DSB 的形成需要几种其他蛋白质,其作用和保守性尚不清楚。在这里,我们表明,酿酒酵母中的这两种蛋白质 Mei4 和 Rec114 在大多数真核生物中是保守的。Mei4(-/-) 小鼠在减数分裂 DSB 形成中缺乏功能,因此表明 Mei4 在小鼠中的功能保守。细胞学分析表明,在小鼠中,MEI4 定位于减数分裂染色体轴上的离散焦点,而与 DMC1 和 RPA 焦点不重叠。因此,我们提出 MEI4 作为 DSB 机器的结构成分,确保在染色体轴上形成减数分裂 DSB。我们表明,小鼠 MEI4 和 REC114 蛋白直接相互作用,并且我们确定了保守基序作为这种相互作用所必需的。最后,一些真核生物物种(特别是粗糙脉孢菌、黑腹果蝇和秀丽隐杆线虫)中 Mei4 和 Rec114 的同时缺失,以及 Mnd1、Hop2 和 Dmc1 的同时缺失,表明存在 Mei4-Rec114 依赖性和 Mei4-Rec114 非依赖性 DSB 形成机制,以及染色体轴和 DSB 形成之间的功能关系。