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同源重组与基因组完整性的维持:从人类RecQ解旋酶视角看癌症与衰老

Homologous recombination and maintenance of genome integrity: cancer and aging through the prism of human RecQ helicases.

作者信息

Ouyang Karen J, Woo Leslie L, Ellis Nathan A

机构信息

Committee on Genetics, University of Chicago, 5841 S. Maryland Avenue, Chicago, IL 60637, USA

出版信息

Mech Ageing Dev. 2008 Jul-Aug;129(7-8):425-40. doi: 10.1016/j.mad.2008.03.003. Epub 2008 Mar 15.

Abstract

Homologous recombination (HR) is a genetic mechanism in somatic cells that repairs DNA double-strand breaks and restores productive DNA synthesis following disruption of replication forks. Although HR is indispensable for maintaining genome integrity, it must be tightly regulated to avoid harmful outcomes. HR-associated genomic instabilities arise in three human genetic disorders, Bloom syndrome (BS), Werner syndrome (WS), and Rothmund-Thomson syndrome (RTS), which are caused by defects in three individual proteins of the RecQ family of helicases, BLM, WRN, and RECQL4, respectively. Cells derived from persons with these syndromes display varying types of genomic instability as evidenced by the presence of different kinds of chromosomal abnormalities and different sensitivities to DNA damaging agents. Persons with these syndromes exhibit a variety of developmental defects and are predisposed to a wide range of cancers. WS and RTS are further characterized by premature aging. Recent research has shown many connections between all three proteins and the regulation of excess HR. Here, we illustrate the elaborate networks of BLM, WRN, and RECQL4 in regulating HR, and the potential mechanistic linkages to cancer and aging.

摘要

同源重组(HR)是体细胞中的一种遗传机制,可修复DNA双链断裂,并在复制叉中断后恢复有效的DNA合成。尽管HR对于维持基因组完整性必不可少,但必须对其进行严格调控以避免有害后果。与HR相关的基因组不稳定性出现在三种人类遗传疾病中,即布卢姆综合征(BS)、沃纳综合征(WS)和罗思蒙德-汤姆森综合征(RTS),它们分别由解旋酶RecQ家族的三种蛋白质BLM、WRN和RECQL4的缺陷引起。这些综合征患者的细胞表现出不同类型的基因组不稳定性,不同类型的染色体异常以及对DNA损伤剂的不同敏感性证明了这一点。患有这些综合征的人表现出各种发育缺陷,并且易患多种癌症。WS和RTS的进一步特征是早衰。最近的研究表明,这三种蛋白质与过量HR的调控之间存在许多联系。在这里,我们阐述了BLM、WRN和RECQL4在调控HR方面的复杂网络,以及与癌症和衰老的潜在机制联系。

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