Interrogating the importance of x-chromosome inactivation and reactivation for meiotic potential

X-chromosome dosage compensation in female mammals is achieved through X-chromosome inactivation (XCI), where one X chromosome is epigenetically silenced to ensure dosage parity with male cells. During germline development, this silenced X chromosome reactivates before the onset of meiosis, however...

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Detalles Bibliográficos
Autor: Mattimoe, Tom
Tipo de recurso: tesis doctoral
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:CBUC, CESCA
Repositorio:TDR. Tesis Doctorales en Red
OAI Identifier:oai:www.tdx.cat:10803/692844
Acceso en línea:http://hdl.handle.net/10803/692844
Access Level:acceso embargado
Palabra clave:Stem cells
Germline
X chromosome
Meiosis
Methylation
Células madre
Línea germinal
Cromosoma X
Metilación
576
Descripción
Sumario:X-chromosome dosage compensation in female mammals is achieved through X-chromosome inactivation (XCI), where one X chromosome is epigenetically silenced to ensure dosage parity with male cells. During germline development, this silenced X chromosome reactivates before the onset of meiosis, however the exact requirements for this remain to be fully characterised. In this thesis, I investigate the significance of X-chromosome dosage regulation in the female germline using an in vitro approach. We generated a dual X-chromosome reporter mouse embryonic stem cell line with a knockout of Xist, the long non-coding RNA responsible for mediating XCI. Our results demonstrate that most cells fail to maintain two active X chromosomes upon exiting pluripotency, leading to either X-chromosome loss or cell death. However, a subset of primordial germ cell-like cells (PGCLCs) that survive this bottleneck with two active X chromosomes progress efficiently to meiosis prophase I. Additionally, we find that X-chromosome dosage significantly influences the transcriptomic and epigenetic landscapes of PGCLCs. These findings offer new insights into the epigenetic prerequisites for proper meiotic entry in female germ cells and underscore the critical role of X-chromosome dosage in germline development.