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A new development in DNA repair modulation: Discovery of a BLM helicase inhibitor

机译:DNA修复调控的新发展:发现BLM解旋酶抑制剂

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摘要

Bloom's syndrome (BS) is a rare autosomal recessive genetic disorder characterized by predisposition to a wide variety of cancers observed in the normal population.1 The BLM gene defective in BS encodes a RecQ DNA helicase (BLM) that is important for genomic stability by suppressing sister chromatid exchanges (SCE) that arise during homologous recombination (HR).2 In fact, SCE frequency of patient cells is used for clinical diagnosis of BS. BLM helicase is believed to suppress SCEs by channeling DNA molecules away from pathways leading to crossover products through its DNA unwinding function and interaction with protein partners (e.g., human topoi-somerase Ilia).
机译:布鲁姆综合征(BS)是一种罕见的常染色体隐性遗传疾病,其特征是易患正常人群中观察到的多种癌症。1BS缺陷的BLM基因编码一个RecQ DNA解旋酶(BLM),对抑制基因组稳定性至关重要在同源重组(HR)期间发生的姐妹染色单体交换(SCE)。2实际上,患者细胞的SCE频率用于BS的临床诊断。据信BLM解旋酶通过引导DNA分子通过其DNA解旋功能和与蛋白质伴侣(例如人拓扑异构酶Ilia)相互作用而导致交叉产物的途径来抑制SCE。

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