X染色体失活的研究进展  

Research progress on X-chromosome inactivation

作　　者：马文杰 薛江阳 解敏 李海波 MA Wenjie;XUE Jiangyang;XIE Min;LI Haibo(Health Science Center of Ningbo University,Ningbo,Zhejiang 315000,China;The Central Laboratory of Birth Defects Prevention and Control,Ningbo Women and Children’s Hospital,Ningbo,Zhejiang,315012 China)

机构地区：[1]宁波大学医学部,浙江宁波315000 [2]宁波市妇女儿童医院出生缺陷综合防治重点实验室,浙江宁波315012

出　　处：《中国优生与遗传杂志》2024年第12期2688-2692,共5页Chinese Journal of Birth Health & Heredity

基　　金：宁波市基因组医学与出生缺陷防治重点实验室;宁波市社会发展公益项目(2022S035);宁波市医疗卫生高端团队(2022020405);宁波市揭榜挂帅重点技术研发项目(2023Z178);宁波市科创甬江2035项目(2024Z221)。

摘　　要：X染色体失活(XCI)作为剂量补偿效应的一种表现形式,通过异染色质化形成巴氏小体,使雌性哺乳动物细胞中的一条X染色体失去转录活性,从而确保雌性与雄性在X连锁基因表达量上的平衡。此外,XCI过程中存在着失活偏移及失活逃逸现象,与许多临床疾病相关。本文综述了目前对XCI选择过程的理解及其影响。X-chromosome inactivation(XCI),as a manifestation of dosage compensation,leads to the inactivation of one X chromosome in female mammalian cells by forming a Barr body through heterochromatinization,thereby ensuring a balanced X-linked genes expression dosage between females and males.Additionally,phenomena such as inactivation skewing and escaping from inactivation occur during the XCI process,which are associated with various clinical diseases.This review summarizes the current understanding of the XCI choice process and its implications.

关 键 词：X染色体失活 XIST 逃逸 X染色体失活偏移 

分 类 号：R596.1[医药卫生—内科学]