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Updated: Sep 27, 2025

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
Published on: May 22, 2019
X-Chromosome Inactivation and Related Diseases
Zhuo Sun1,2, Jinbo Fan1, Yang Wang1
1Xi'an Key Laboratory of Pathogenic Microorganism and Tumor Immunity, Xi'an Medical University, No. 1 XinWang Road, Weiyang District, Xi'an 710021, Shaanxi, China.
Abstract:
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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