退火解旋酶SMARCAL1在维持基因组稳定中的作用与机制

doi:10.16288/j.yczz.19-158

遗传 ›› 2019, Vol. 41 ›› Issue (12): 1084-1098.doi: 10.16288/j.yczz.19-158

退火解旋酶SMARCAL1在维持基因组稳定中的作用与机制

文雅蕾¹, 吕柯孬², 徐小康¹, 张欣¹, 丁良¹(), 潘学峰^1,^2,³()

^1. 河北大学医学院药理室,保定 071000
^2. 北京理工大学生命学院,北京 100081
^3. 河北大学化学与环境学院,保定 071000

收稿日期:2019-07-07 修回日期:2019-09-04 出版日期:2019-12-20 发布日期:2019-09-18
通讯作者: 丁良,潘学峰 E-mail:345823685@qq.com;xuefengpancam@aliyun.com
作者简介:文雅蕾,硕士研究生,专业方向：分子药理学。E-mail: 491574395@qq.com
基金资助:
北京自然科学基金项目编号(5132014);河北省医学科学重点项目资助编号(20160051)

SMARCAL1, roles and mechanisms in genome stability maintenance

Yalei Wen¹, Kenao Lü², Xiaokang Xu¹, Xin Zhang¹, Liang Ding¹(), Xuefeng Pan^1,^2,³()

^1. Department of Pharmacology, Medical College of Hebei University, Baoding 071000, China
^2. School of Life Science, Beijing Institute of Technology, Beijing 100081, China
^3. School of Chemistry and Environmental Science, Hebei University, Baoding 071000, China

Received:2019-07-07 Revised:2019-09-04 Online:2019-12-20 Published:2019-09-18
Contact: Ding Liang,Pan Xuefeng E-mail:345823685@qq.com;xuefengpancam@aliyun.com
Supported by:
Supported by the Beijing Natural Science Foundation No(5132014);and the Hebei Provincial Key Research Programs for Medical Science No(20160051)

摘要/Abstract

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,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,旨在更好地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: SMARCAL1, RPA, DNA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 words: SMARCAL1, RPA, DNA replication fork, SIOD, expansions of trinucleotide repeats

文雅蕾, 吕柯孬, 徐小康, 张欣, 丁良, 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, 2019, 41(12): 1084-1098.

Yalei Wen, Kenao Lü, Xiaokang Xu, Xin Zhang, Liang Ding, Xuefeng Pan. SMARCAL1, roles and mechanisms in genome stability maintenance[J]. Hereditas(Beijing), 2019, 41(12): 1084-1098.

图/表 6

图1

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图3

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图5

表1

Smarcal1基因突变型与SIOD的症状关联"

突变位点	突变类型	功能	症状	参考文献
c.1129G>C, p. E377Q	错义突变	SNP和非致病突变	无	[86]
c.1933C>T, p. R645C	错义突变	ATP酶活性缺失和解旋酶活性缺失	T细胞免疫缺陷、肾功能衰竭和生长迟缓
c.1334+1G>A	剪切突变	非致病突变	无
c.2142-1G>A	剪切突变	非致病突变	无
NM_014140.3：c.2070t2insT	mRNA剪切突变	非致病突变	无	[20]
p.[M288_D366del]+[M288_D366del]	双等位基因突变	缺乏解旋酶活性	生长迟缓、全血细胞减少症、短暂性脑缺血和肾病综合征	[12]
p.[E377Q]+[I755fsX2]	双等位基因突变	缺乏解旋酶活性	T细胞免疫缺陷、FSGS和生长迟缓
p.[Y342X]+[I755S]	双等位基因突变	缺乏解旋酶活性	生长迟缓、全血细胞减少症、反复感染和肾病综合征
c.445C>T(p.Q149X)	无义突变	导致氨基酸的改变	生长迟缓、蛋白尿和T细胞免疫缺陷	[87]
p.R817H	错义突变	缺乏解旋酶活性	生长迟缓、T细胞免疫缺陷和肾功能不全	[88]
c.1615C> G(p.[Leu539Val])	错义突变	缺乏解旋酶活性	生长迟缓、FSGS、肾衰竭和T细胞免疫缺陷	[89]
p. R247P	错义突变	退火酶活性	甲状腺功能不全、骨骼发育不良和蛋白尿	[90]
p. E848*	无义突变	退火酶活性	甲状腺功能不全、骨骼发育不良和蛋白尿	[90]
p.L397fsX40	移码突变	退火酶活性	FSGS、T细胞免疫缺陷、生长发育不良和鼻窦癌	[91]
p.S859P	错义突变	ATP酶活性	FSGS、T细胞免疫缺陷、生长发育不良和鼻窦癌	[91]
c.3G> A(p.M1?)	剪切突变	与RPA相互作用	生长迟缓、复发感染和中性粒细胞增多症、FSGS,T细胞免疫缺陷和严重腕骨骨质衰老	[92]
c.1682G> A(p. R561H)	错义突变	ATP酶活性	生长迟缓、复发感染和中性粒细胞增多症、FSGS,T细胞免疫缺陷和严重腕骨骨质衰老	[92]
R561C	错义突变	ATP酶活性	T细胞免疫缺陷、面部畸形、肾病综合征和FSGS	[93]
c.2542G> T, p.E848x	无义突变	退火酶活性	生长迟缓和慢性肾功能衰竭	[94]
c.1934G> A, p.R645H	错义突变	ATP酶活性	生长迟缓和慢性肾功能衰竭	[94]
IVS4-2A>G	剪接突变	非致病突变	肾脏畸形、生长迟缓和T细胞免疫缺陷	[14]
1136A> C, H379P	无义突变	非致病突变	生长迟缓、肾衰、FSGS和T细胞免疫缺陷	[95]
836T> C, F279S	错义突变	ATP酶活性	生长迟缓、肾衰、FSGS和T细胞免疫缺陷	[95]
1-BP INS,1849C	插入		生长迟缓和面部畸形	[96]
1-BP DEL.2161C	缺失		生长迟缓和面部畸形	[96]
R586W	错义突变	ATP酶活性	生长迟缓、蛋白尿和T细胞免疫缺陷	[97]
R644W	错义突变	ATP酶活性	生长迟缓、FSGS、肾衰竭和T细胞免疫缺陷
R645C	错义突变	ATP酶活性	生长迟缓、蛋白尿和T细胞免疫缺陷
R764Q	错义突变	ATP酶活性	生长迟缓、FSGS、肾衰竭和T细胞免疫缺陷
c.797-798delCC	微缺失突变	解旋酶活性	骨骼发育不良、蛋白尿和肾病综合征	[81]
IVSA7+1G>7	剪切突变	ATP酶活性	骨骼发育不良、蛋白尿和肾病综合征	[81]
A468P	错义突变	ATP酶活性	生长迟缓、蛋白尿和T细胞免疫缺陷	[93]
I548N	错义突变	ATP酶活性
S579L	错义突变	ATP酶活性

表1

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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

SMARCAL1, roles and mechanisms in genome stability maintenance

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