X-Chromosome Inactivation and Related Diseases

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 th...

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Main Authors: Zhuo Sun, Jinbo Fan, Yang Wang
Format: Article
Language:English
Published: Wiley 2022-01-01
Series:Genetics Research
Online Access:http://dx.doi.org/10.1155/2022/1391807
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author Zhuo Sun
Jinbo Fan
Yang Wang
author_facet Zhuo Sun
Jinbo Fan
Yang Wang
author_sort Zhuo Sun
collection DOAJ
description 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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spelling doaj-art-bf93e40895534c56842fa7d324e01e062025-02-03T01:09:51ZengWileyGenetics Research1469-50732022-01-01202210.1155/2022/1391807X-Chromosome Inactivation and Related DiseasesZhuo Sun0Jinbo Fan1Yang Wang2Xi’an Key Laboratory of Pathogenic Microorganism and Tumor ImmunityXi’an Key Laboratory of Pathogenic Microorganism and Tumor ImmunityXi’an Key Laboratory of Pathogenic Microorganism and Tumor ImmunityX-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.http://dx.doi.org/10.1155/2022/1391807
spellingShingle Zhuo Sun
Jinbo Fan
Yang Wang
X-Chromosome Inactivation and Related Diseases
Genetics Research
title X-Chromosome Inactivation and Related Diseases
title_full X-Chromosome Inactivation and Related Diseases
title_fullStr X-Chromosome Inactivation and Related Diseases
title_full_unstemmed X-Chromosome Inactivation and Related Diseases
title_short X-Chromosome Inactivation and Related Diseases
title_sort x chromosome inactivation and related diseases
url http://dx.doi.org/10.1155/2022/1391807
work_keys_str_mv AT zhuosun xchromosomeinactivationandrelateddiseases
AT jinbofan xchromosomeinactivationandrelateddiseases
AT yangwang xchromosomeinactivationandrelateddiseases