Pedrazzi Graziella, Bachrati Csanád Z, Selak Nives, Studer Ingrid, Petkovic Maja, Hickson Ian D, Jiricny Josef, Stagljar Igor
Institute of Veterinary Biochemistry and Molecular Biology, University of Zürich, Winterthurerstr. 190, CH-8057 Zürich, Switzerland.
Biol Chem. 2003 Aug;384(8):1155-64. doi: 10.1515/BC.2003.128.
Bloom's syndrome (BS) is a rare genetic disorder characterised by genome instability and cancer susceptibility. BLM, the BS gene product, belongs to the highly-conserved RecQ family of DNA helicases. Although the exact function of BLM in human cells remains to be defined, it seems likely that BLM eliminates some form of homologous recombination (HR) intermediate that arises during DNA replication. Similarly, the mismatch repair (MMR) system also plays a crucial role in the maintenance of genomic stability, by correcting DNA errors generated during DNA replication. Recent evidence implicates components of the MMR system also in HR repair. We now show that hMSH6, a component of the heterodimeric mismatch recognition complex hMSH2/hMSH6 (hMutS(alpha)), interacts with the BLM protein both in vivo and in vitro. In agreement with these findings, BLM and hMSH6 co-localise to discrete nuclear foci following exposure of the cells to ionising radiation. However, the purified recombinant MutS(alpha) complex does not affect the helicase activity of BLM in vitro. As BLM has previously been shown to interact with the hMLH1 component of the hMLH1/hPMS2 (hMutL(alpha)) heterodimeric MMR complex, our present findings further strengthen the link between BLM and processes involving correction of DNA mismatches, such as in the regulation of the fidelity of homologous recombination events.
布卢姆综合征(BS)是一种罕见的遗传性疾病,其特征为基因组不稳定和易患癌症。BS基因产物BLM属于高度保守的DNA解旋酶RecQ家族。尽管BLM在人类细胞中的具体功能尚待确定,但BLM似乎能够消除DNA复制过程中产生的某种形式的同源重组(HR)中间体。同样,错配修复(MMR)系统在维持基因组稳定性方面也起着关键作用,它通过纠正DNA复制过程中产生的DNA错误来实现这一点。最近的证据表明MMR系统的成分也参与HR修复。我们现在发现,异二聚体错配识别复合物hMSH2/hMSH6(hMutSα)的一个成分hMSH6在体内和体外均与BLM蛋白相互作用。与这些发现一致的是,细胞暴露于电离辐射后,BLM和hMSH6共定位于离散的核灶。然而,纯化的重组MutSα复合物在体外并不影响BLM的解旋酶活性。由于之前已证明BLM与hMLH1/hPMS2(hMutLα)异二聚体MMR复合物的hMLH1成分相互作用,我们目前的发现进一步加强了BLM与涉及DNA错配校正的过程之间的联系,比如在同源重组事件保真度的调节方面。