ATP依赖的染色质重塑复合物异常与人类神经发育遗传病的研究进展  

Anomalies of ATP-dependent chromatin remodeling complexes and human neurodevelopmental genetic disorders

作　　者：桂芸 李璐璐 王剑 Gui Yun;Li Lulu;Wang Jian(Shanghai Key Laboratory of Embryo Original Diseases,the International Peace Maternity and Child Health Care Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200030,China)

机构地区：[1]上海交通大学医学院附属国际和平妇幼保健院 [2]上海市胚胎源性疾病重点实验室,上海200030

出　　处：《中华医学遗传学杂志》2024年第11期1387-1392,共6页Chinese Journal of Medical Genetics

摘　　要：ATP依赖的染色质重塑复合物在改善局部DNA的可及性、调节基因转录以及介导DNA的复制和修复等过程中扮演重要的角色。根据所包含的功能结构域,又可将其分为SWI/SNF、ISWI、CHD和INO80四大类。四者均为调控基因表达的重要因子,在机体发育的过程中发挥关键的作用。复合物组分编码基因的变异与人类发育障碍和神经异常综合征等遗传病的发生密切相关。本文介绍了ATP依赖的染色质重塑复合物的分类、基本功能和作用机制,以及这类复合物亚基编码基因变异所导致的常见神经系统遗传病。ATP-dependent chromatin remodeling complexes play crucial roles in various biological processes including enhancing local DNA accessibility,regulating gene transcription,and facilitating DNA replication and repair.Based on their functional structural domains,these complexes may be categorized into four families,including SWI/SNF,ISWI,CHD and INO80.Such families are vital factors for regulating gene expression and play pivotal roles in developmental processes.Variants of genes encoding the components of such complexes have been closely associated with human developmental disorders and neurodevelopmental genetic syndromes.This review has summarized the classification,fundamental functions and underlying mechanism of the ATP-dependent chromatin remodeling complexes,as well as common neurological genetic disorders due to variants of genes encoding the subunits of such complexes.

关 键 词：染色质重塑复合物 SWI/SNF家族 CHD家族 基因变异 神经系统遗传病 

分 类 号：R741[医药卫生—神经病学与精神病学]