中文摘要：

RECQL4属于人类RECQ解旋酶家族,其变异已引起至少3种基因组不稳定性疾病。除了同家族其他成员一样参与DNA损伤修复外,RECQL4独特的结构还使其参与了复制的起始。最新研究结果表明,RECQL4可维持端粒和线粒体DNA的稳定,提示RECQL4的作用可能更为广泛。对RECQL4维持基因组稳定的不同途径及其机制进行了归纳,以期为人们探索RECQL4相关性疾病的发病机理和治疗方案提供思路。

英文摘要：

RECQL4 belonging to RECQ helicase family is responsible for more then three human diseases of genomic disorder. Being involved in DNA damage repair like other family members, the special structure of RECQL4 makes it involve in initiating of DNA replication. It was found that RECQL4 helps maintain the stability of telomere and mitochondrial DNA, revealing that RECQL4 may have broad functions. Different ways that RECQL4 maintains the stability of the genome were summarized to provide advices on exploring the mechanisms and therapies of RECQL4 related diseases.