SMARCAL1在维持复制叉、端粒稳定性中的作用及Schimke免疫骨性发育不良的研究进展  

The Role of SMARCAL1 in Maintaining Replication Fork and Telomere Stability and the Research Progress of SIOD

作　　者：王媛媛[1] 石淑娟 刘涛 陈蓉[1] 

机构地区：[1]山东潍坊市妇幼保健院,儿科,山东 潍坊 [2]山东青岛妇女儿童医院,儿科,山东 潍坊 [3]山东潍坊市市直机关医院,检验科,山东 潍坊

出　　处：《临床医学进展》2021年第4期2013-2025,共13页Advances in Clinical Medicine

摘　　要：SMARCAL1也称为HARP,是一种ATP依赖退火解旋酶,可在DNA损伤期间稳定复制叉。该基因中的突变是造成Schimke免疫性骨发育不良(SIOD)的原因,SIOD是一种常染色体隐性遗传疾病,以生长功能障碍、肾脏损害、T细胞免疫缺陷为表征。我们总结了SMARCAL1在应对DNA复制应激过程中对DNA修复,维持端粒和复制叉稳定上的主要作用、SMARCAL1基因突变导致的疾病表型、癌症预测、SIOD的诊疗进展等方面进行总结。SMARCAL1, called HARP, is an ATP-dependent annealing helicase that stably replicates forks during DNA damage. Mutations in this gene are responsible for immune bone dysplasia (SIOD), SIOD is an autosomal recessive inherited disease characterized by growth dysfunction, kidney damage, and T cell immunodeficiency. We summarized the main role of SMARCAL1 in DNA repair and telomere and replication fork stability in response to DNA replication stress, disease phenotypes caused by SMARCAL1 gene mutations, cancer prediction, and diagnosis and treatment progress of SIOD.

关 键 词：DNA复制 稳定性 SMARCAL1 端粒 SIOD 

分 类 号：R73[医药卫生—肿瘤]