Kikuchi Koji, Abdel-Aziz H Ismail, Taniguchi Yoshihito, Yamazoe Mitsuyoshi, Takeda Shunichi, Hirota Kouji
Department of Radiation Genetics, Graduate School of Medicine, Kyoto University, Yoshidakonoe, Kyoto 606-8501, Japan.
J Biol Chem. 2009 Sep 25;284(39):26360-7. doi: 10.1074/jbc.M109.029348. Epub 2009 Aug 5.
Bloom syndrome caused by inactivation of the Bloom DNA helicase (Blm) is characterized by increases in the level of sister chromatid exchange, homologous recombination (HR) associated with cross-over. It is therefore believed that Blm works as an anti-recombinase. Meanwhile, in Drosophila, DmBlm is required specifically to promote the synthesis-dependent strand anneal (SDSA), a type of HR not associating with cross-over. However, conservation of Blm function in SDSA through higher eukaryotes has been a matter of debate. Here, we demonstrate the function of Blm in SDSA type HR in chicken DT40 B lymphocyte line, where Ig gene conversion diversifies the immunoglobulin V gene through intragenic HR between diverged homologous segments. This reaction is initiated by the activation-induced cytidine deaminase enzyme-mediated uracil formation at the V gene, which in turn converts into abasic site, presumably leading to a single strand gap. Ig gene conversion frequency was drastically reduced in BLM(-/-) cells. In addition, BLM(-/-) cells used limited donor segments harboring higher identity compared with other segments in Ig gene conversion event, suggesting that Blm can promote HR between diverged sequences. To further understand the role of Blm in HR between diverged homologous sequences, we measured the frequency of gene targeting induced by an I-SceI-endonuclease-mediated double-strand break. BLM(-/-) cells showed a severer defect in the gene targeting frequency as the number of heterologous sequences increased at the double-strand break site. Conversely, the overexpression of Blm, even an ATPase-defective mutant, strongly stimulated gene targeting. In summary, Blm promotes HR between diverged sequences through a novel ATPase-independent mechanism.
由布鲁姆DNA解旋酶(Blm)失活引起的布鲁姆综合征的特征是姐妹染色单体交换水平增加,这与交叉相关的同源重组(HR)有关。因此,人们认为Blm起着抗重组酶的作用。与此同时,在果蝇中,DmBlm是促进合成依赖链退火(SDSA)所特需的,SDSA是一种不与交叉相关的HR类型。然而,Blm在高等真核生物SDSA中的功能保守性一直存在争议。在这里,我们证明了Blm在鸡DT40 B淋巴细胞系的SDSA型HR中的功能,在该细胞系中,Ig基因转换通过不同同源区段之间的基因内HR使免疫球蛋白V基因多样化。该反应由激活诱导的胞苷脱氨酶介导的V基因尿嘧啶形成引发,进而转化为无碱基位点,可能导致单链缺口。在BLM(-/-)细胞中,Ig基因转换频率大幅降低。此外,与Ig基因转换事件中的其他区段相比,BLM(-/-)细胞使用的供体区段有限,且具有更高的同源性,这表明Blm可以促进不同序列之间的HR。为了进一步了解Blm在不同同源序列之间的HR中的作用,我们测量了由I-SceI内切酶介导的双链断裂诱导的基因打靶频率。随着双链断裂位点异源序列数量的增加,BLM(-/-)细胞在基因打靶频率上表现出更严重的缺陷。相反,Blm的过表达,即使是ATP酶缺陷突变体,也能强烈刺激基因打靶。总之,Blm通过一种新的不依赖ATP酶的机制促进不同序列之间的HR。