X-Chromosome Inactivation and Related Diseases

被引：20
|
作者：
Sun, Zhuo [1 ,2 ]
Fan, Jinbo [1 ]
Wang, Yang [1 ]
机构：
[1] Xian Med Univ, Xian Key Lab Pathogen Microorganism & Tumor Immun, 1 XinWang Rd, Xian 710021, Shaanxi, Peoples R China
[2] Xian Med Univ, Inst Basic Med Sci, 1 XinWang Rd, Xian 710021, Shaanxi, Peoples R China
来源：
GENETICS RESEARCH | 2022年 / 2022卷
基金：
中国国家自然科学基金;
关键词：
SYSTEMIC-LUPUS-ERYTHEMATOSUS; ANDERSON-FABRY-DISEASE; T-CELLS; CLINICAL MANIFESTATIONS; MANIFESTING CARRIER; ALPHA-GALACTOSIDASE; MUSCULAR-DYSTROPHY; MONOZYGOTIC TWINS; RETT-SYNDROME; FEMALE TWINS;
D O I：
10.1155/2022/1391807
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
X-chromosome inactivation (XCI) is the form of dosage compensation in mammalian female cells to balance X-linked gene expression levels of the two sexes. Many diseases are related to XCI due to inactivation escape and skewing, and the symptoms and severity of these diseases also largely depend on the status of XCI. They can be divided into 3 types: X-linked diseases, diseases that are affected by XCI escape, and X-chromosome aneuploidy. Here, we review representative diseases in terms of their definition, symptoms, and XCI's role in the pathogenesis of these diseases.
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页数：8
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