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退火解旋酶SMARCAL1在维持基因组稳定中的作用与机制

已有 815 次阅读 2019-9-19 20:29 |个人分类:Science in action|系统分类:观点评述

                  退火解旋酶SMARCAL1在维持基因组稳定中的作用与机制    

摘要: SMARCAL1是属于SWI/SNF(SWItch/Sucrose Non-Fermentable)相关、基质相关和激动蛋白依赖的染色质调节因子家族成员ATP驱动的DNA退火解旋酶。SMARCAL1在体外和体内能催化单链结合蛋白RPA结合的DNA单链与其互补链退火成双链DNA。人Smarcal1基因的突变与Schimke免疫骨性发育不良(Schimke immuno-osseous dysplasia, SIOD)所能表现出的临床症状呈高度相关。本文对SMARCAL1在DNA损伤部位DNA复制叉的重塑、在DNA双链断裂(double-stranded DNA, dsDNA)处参与经典的非同源末端连接(non-homologous end joining,NHEJ)修复,以及在人染色体端粒完整性维护等方面的作用与机制进行了梳理。此外,对Smarcal1基因突变类型与SIOD症状之间的对应关系进行了更新,并对SMARCAL1在三核苷酸重复序列扩增关联的神经-肌肉退行性病变过程中的可能作用进行了分析和讨论,旨在更好的理解该退火解旋酶在维持基因组稳定中的作用和机制。        
关键词 SMARCAL1RPADNA复制叉SIOD三核苷酸重复序列扩增    

Abstract:SMARCAL1 is an ATP-driven DNA annealing helicase that is similar in structure to the chromatin regulators in the subfamily A group of the SWI/SNF-related matrix-associated actin-dependent chromatin regulators. SMARCAL1 catalyzes the formation of dsDNA by annealing the single-stranded binding protein RPA coated ssDNA with its complementary strand both in vitro and in vivo. In humans, different mutations of Smarcal1 gene are found to be closely related to different symptoms shown in individuals with Schimke immuno-osseous dysplasia (SIOD). This paper reviews the recent research progress of SMARCAL1 functions in remodeling DNA replication forks at damaged DNA sites, working in classical non-homologous end joining (NHEJ) repair of DNA double-stranded breaks, and in maintaining chromosomal telomere integrity. The relationships between the mutations of Smarcal1 gene in different SIOD symptoms, and the possible involvements of SMARCAL1 in neuromuscular degenerative diseases associated with trinucleotide repeats expansions are also updated and discussed to better understand

 the roles and mechanisms of the annealing helicase in genome stability maintenance.

Key wordsSMARCAL1    RPA    DNA replication fork    SIOD    Expansions of trinucleotide repeats
    收稿日期: 2019-05-31                         出版日期: 2019-09-18    
基金资助:北京自然科学基金;河北省医学科学重点项目
通讯作者简介: 文雅蕾           



http://www.chinagene.cn/CN/10.16288/j.yczz.19-158

 


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文雅蕾 潘学峰. 退火解旋酶SMARCAL1在维持基因组稳定中的作用与机制[J]. 遗传, 10.16288/j.yczz.19-158.                                                                                                                                                                     Xuefeng Pan. SMARCAL1, roles and Mechanisms in genome stability maintenance. Hereditas(Beijing), 0, (): 0-0.




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