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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Detalles Bibliográficos
Autores principales: Santos-Rebouças, Cíntia B., Boy, Raquel, Vianna, Evelyn Q., Gonçalves, Andressa P., Piergiorge, Rafael M., Abdala, Bianca B., dos Santos, Jussara M., Calassara, Veluma, Machado, Filipe B., Medina-Acosta, Enrique, Pimentel, Márcia M. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064548/
https://www.ncbi.nlm.nih.gov/pubmed/32194616
http://dx.doi.org/10.3389/fgene.2020.00101

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064548/
https://www.ncbi.nlm.nih.gov/pubmed/32194616
http://dx.doi.org/10.3389/fgene.2020.00101

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