Inativação do cromossoma X: implicações na patologia humana

• Autor(a) principal: Guilherme José Ruivo Pereira
• Data de Publicação: 2021
• Tipo de documento: Dissertação
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://hdl.handle.net/10216/134410
• topic: Medicina clínica; Clinical medicine

X-Chromosome Inactivation (XCI) is a process involved in the pathogenesis of several diseases. In this mini review we discuss the known mechanisms associated with XCI, when and how it initiate, spreads and maintain, as well as the mechanisms that allow some genes to escape from it. We address skewed XCI, the condition that happen when this process is not fully randomized, and its consequences to the phenotype of some pathologies. We debate about the known pathologies implicated, including X unbalanced rearrangements, X-autosomal balanced translocations, Turner and Klinefelter syndromes and also for X-linked diseases and his consequences for males and females. Some pathologies were discussed more in detail such as intellectual disability with a recognize relation with XCI. Finally, possible future implications for genomic therapy and treatment of patients and list areas that need further research on this topic were addressed.