SMARCAL1, roles and mechanisms in genome stability maintenance
Received date: 2019-07-07
Revised date: 2019-09-04
Online published: 2019-09-18
Supported by
Supported by the Beijing Natural Science Foundation No(5132014);and the Hebei Provincial Key Research Programs for Medical Science No(20160051)
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
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 . DOI: 10.16288/j.yczz.19-158
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