染色体结构维持蛋白及其相关的遗传病  

Structural maintenance of chromosomes and associated genetic disorders

作　　者：陈坤浩 邵雨琪 石瑶 乔洁[2] Chen Kunhao;Shao Yuqi;Shi Yao;Qiao Jie(Shanghai Jiaotong University School of Medicine,Shanghai 200025,China;Department of Endocrinology,Shanghai 9th Hospital Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200011,China)

机构地区：[1]上海交通大学医学院,上海200025 [2]上海交通大学医学院附属第九人民医院内分泌科,上海200011

出　　处：《中华医学遗传学杂志》2024年第6期761-768,共8页Chinese Journal of Medical Genetics

基　　金：上海市自然科学基金(21ZR1438300);上海交通大学交叉学科创新人才培养基地项目;国家自然科学基金(82371873)。

摘　　要：染色体结构维持蛋白(SMC)包括黏结蛋白(Cohesin)复合体、凝缩蛋白(Condensin)复合体以及SMC5/6复合体,这些具有相似结构的环状蛋白复合物在染色单体的黏着、集缩、DNA损伤修复以及基因转录中发挥重要的作用。近年来,围绕SMCs功能的研究不断深入,但目前对于SMC5/6复合体的认识远不及另外两者清晰。本文介绍了SMCs的结构、重要的生理功能以及SMCs蛋白组分基因变异所导致的疾病如德朗热综合征(CdLS)、小头畸形等,以深入了解其在真核细胞中的功能以及与人类遗传病的关系。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.

关 键 词：黏结蛋白复合体 凝缩蛋白复合体 SMC5/6复合体 基因变异 德朗热综合征 

分 类 号：R596[医药卫生—内科学]