Anomalies of ATP-dependent chromatin remodeling complexes and human neurodevelopmental genetic disorders
10.3760/cma.j.cn511374-20240226-00123
- VernacularTitle: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
- Author:
Yun GUI
1
;
Lulu LI
;
Jian WANG
Author Information
1. 上海交通大学医学院附属国际和平妇幼保健院
- Keywords:
Chromatin remodeling complex;
SWI/SNF family;
CHD family;
Genetic variant;
Neurogenetic disorders
- From:
Chinese Journal of Medical Genetics
2024;41(11):1387-1392
- CountryChina
- Language:Chinese
-
Abstract:
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.
