Structural maintenance of chromosomes and associated genetic disorders
10.3760/cma.j.cn511374-20231120-00262
- VernacularTitle:染色体结构维持蛋白及其相关的遗传病
- Author:
Kunhao CHEN
1
;
Yuqi SHAO
;
Yao SHI
;
Jie QIAO
Author Information
1. 上海交通大学医学院，上海 200025
- Keywords:
Cohesin Complex;
Condensin Complex;
SMC5/6 Complex;
Genetic variant;
Cornelia de Lange syndrome
- From:
Chinese Journal of Medical Genetics
2024;41(6):761-768
- CountryChina
- Language:Chinese
-
Abstract:
Structural maintenance of chromosomes (SMC), including cohesin, condensin and the SMC5/6 complex, are protein complexes which maintain the higher structure and dynamic stability of chromatin. Such circular complexes, with similar structures, play pivotal roles in chromatid cohesion, chromosomal condensation, DNA replication and repair, as well as gene transcription. Despite extensive research on the functions of the SMCs, our understanding of the SMC5/6 complex has remained limited compared with the other two complexes. This article has reviewed the architecture and crucial physiological roles of the SMCs, and explored the associated phenotypes resulting from mutations of the SMC components such as Cornelia de Lange syndrome (CdLS) and microcephaly, with an aim to provide insights into their functions in eukaryotic cells and implications for human diseases.
