Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion

Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion

In mammalian females, X-chromosome inactivation (XCI) acts as a dosage compensation mechanism that equalizes X-linked genes expression between homo- and heterogametic sexes. However, approximately 12–23% of X-linked genes escape from XCI, being bi-allelic expressed. Herein, we report on genetic and...

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Bibliographic Details
Main Authors: Cíntia B. Santos-Rebouças, Raquel Boy, Evelyn Q. Vianna, Andressa P. Gonçalves, Rafael M. Piergiorge, Bianca B. Abdala, Jussara M. dos Santos, Veluma Calassara, Filipe B. Machado, Enrique Medina-Acosta, Márcia M. G. Pimentel
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-03-01
Series:Frontiers in Genetics
Subjects:
AR
escape genes
transcriptome-wide analysis
X-chromosome deletion
X-chromosome inactivation
RP2
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00101/full

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https://www.frontiersin.org/article/10.3389/fgene.2020.00101/full

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