[Research Progress in the Roles of MRE11-RAD50-NBS1 Complex and Human Diseases].

Q4 Medicine

中国医学科学院学报 Pub Date : 2024-04-01 DOI:10.3881/j.issn.1000-503X.15556

Xiao-Hui Xu, Yi-Dan Liu

{"title":"[Research Progress in the Roles of MRE11-RAD50-NBS1 Complex and Human Diseases].","authors":"Xiao-Hui Xu, Yi-Dan Liu","doi":"10.3881/j.issn.1000-503X.15556","DOIUrl":null,"url":null,"abstract":"DNA is susceptible to various factors in vitro and in vivo and experience different forms of damage,among which double-strand break(DSB)is a deleterious form.To maintain the stability of genetic information,organisms have developed multiple mechanisms to repair DNA damage.Among these mechanisms,homologous recombination(HR)is praised for the high accuracy.The MRE11-RAD50-NBS1(MRN)complex plays an important role in HR and is conserved across different species.The knowledge on the MRN complex mainly came from the previous studies in Saccharomyces cerevisiae and Caenorhabditis elegans,while studies in the last decades have revealed the role of mammalian MRN complex in DNA repair of higher animals.In this review,we first introduces the MRN complex regarding the composition,structure,and roles in HR.In addition,we discuss the human diseases such as ataxia-telangiectasia-like disorder,Nijmegen breakage syndrome,and Nijmegen breakage syndrome-like disorder that are caused by dysfunctions in the MRN complex.Furthermore,we summarize the mouse models established to study the clinical phenotypes of the above diseases.","PeriodicalId":6919,"journal":{"name":"中国医学科学院学报","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"中国医学科学院学报","FirstCategoryId":"1087","ListUrlMain":"https://doi.org/10.3881/j.issn.1000-503X.15556","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

Abstract

DNA is susceptible to various factors in vitro and in vivo and experience different forms of damage,among which double-strand break(DSB)is a deleterious form.To maintain the stability of genetic information,organisms have developed multiple mechanisms to repair DNA damage.Among these mechanisms,homologous recombination(HR)is praised for the high accuracy.The MRE11-RAD50-NBS1(MRN)complex plays an important role in HR and is conserved across different species.The knowledge on the MRN complex mainly came from the previous studies in Saccharomyces cerevisiae and Caenorhabditis elegans,while studies in the last decades have revealed the role of mammalian MRN complex in DNA repair of higher animals.In this review,we first introduces the MRN complex regarding the composition,structure,and roles in HR.In addition,we discuss the human diseases such as ataxia-telangiectasia-like disorder,Nijmegen breakage syndrome,and Nijmegen breakage syndrome-like disorder that are caused by dysfunctions in the MRN complex.Furthermore,we summarize the mouse models established to study the clinical phenotypes of the above diseases.

查看原文本刊更多论文

[MRE11-RAD50-NBS1 复合物的作用与人类疾病的研究进展]。

DNA在体外和体内易受各种因素的影响而发生不同形式的损伤，其中双链断裂（DSB）是一种有害的损伤形式。为了维持遗传信息的稳定性，生物体发展出了多种修复DNA损伤的机制，其中同源重组（HR）因其高准确性而备受赞誉。MRE11-RAD50-NBS1（MRN）复合物在HR中发挥着重要作用，并在不同物种间具有保守性。关于MRN复合物的知识主要来自于之前在酿酒酵母和高杆线虫中的研究，而最近几十年的研究则揭示了哺乳动物MRN复合物在高等动物DNA修复中的作用。本综述首先介绍了MRN复合体的组成、结构和在HR中的作用，然后讨论了由MRN复合体功能障碍引起的人类疾病，如共济失调-特朗根扩张症样疾病、奈梅亨断裂综合征和奈梅亨断裂综合征样疾病，并总结了为研究上述疾病的临床表型而建立的小鼠模型。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

中国医学科学院学报 Medicine-Medicine (all)

CiteScore

0.60

自引率

0.00%

发文量

6813

期刊介绍： Acta Academiae Medicinae Sinicae was founded in February 1979. It is a comprehensive medical academic journal published in China and abroad, supervised by the Ministry of Health of the People's Republic of China and sponsored by the Chinese Academy of Medical Sciences and Peking Union Medical College. The journal mainly reports the latest research results, work progress and dynamics in the fields of basic medicine, clinical medicine, pharmacy, preventive medicine, biomedicine, medical teaching and research, aiming to promote the exchange of medical information and improve the academic level of medicine. At present, the journal has been included in 10 famous foreign retrieval systems and their databases [Medline (PubMed online version), Elsevier, EMBASE, CA, WPRIM, ExtraMED, IC, JST, UPD and EBSCO-ASP]; and has been included in important domestic retrieval systems and databases [China Science Citation Database (Documentation and Information Center of the Chinese Academy of Sciences), China Core Journals Overview (Peking University Library), China Science and Technology Paper Statistical Source Database (China Science and Technology Core Journals) (China Institute of Scientific and Technological Information), China Science and Technology Journal Paper and Citation Database (China Institute of Scientific and Technological Information)].