[Structural maintenance of chromosomes and associated genetic disorders].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(6): 761-768, 2024 Jun 10.
Article
in Zh
| MEDLINE
| ID: mdl-38818566
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomal Proteins, Non-Histone
/
Cell Cycle Proteins
Limits:
Animals
/
Humans
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
/
Zhonghua yi xue yi chuan xue za zhi
Journal subject:
GENETICA MEDICA
Year:
2024
Document type:
Article
Affiliation country:
China
Country of publication:
China