Multi-scale study of the genome architecture and its dynamical facets

High-throughput Chromosome Conformation Capture (3C) techniques have provided a comprehensive overview of the genome architecture. Hi-C, a derivative of 3C, has become a reference technique to study the 3D chromatin structure and its relationship with the functional state of the cell. However, sever...

Descripción completa

Detalles Bibliográficos
Autor: Soler Vila, Paula
Tipo de recurso: tesis doctoral
Estado:Versión publicada
Fecha de publicación:2019
País:España
Institución:CBUC, CESCA
Repositorio:TDR. Tesis Doctorales en Red
OAI Identifier:oai:www.tdx.cat:10803/668229
Acceso en línea:http://hdl.handle.net/10803/668229
Access Level:acceso abierto
Palabra clave:Genome architecture
Hi-C
Chromatin compartments
Tipollogycally-associated domains
TADpole
Arquitectura genòmica
Compartimentos de la cromatina
Dominios asociados topológicamente
575
Descripción
Sumario:High-throughput Chromosome Conformation Capture (3C) techniques have provided a comprehensive overview of the genome architecture. Hi-C, a derivative of 3C, has become a reference technique to study the 3D chromatin structure and its relationship with the functional state of the cell. However, several aspects of the analysis and interpretation of Hi-C data remain a challenge and may hide a potential yet to be unveiled. In this thesis, we explore the structural landscape of multiple chromatin features. We developed an integrative approach combining in situ Hi-C data with nine additional omic layers and revealed a new dynamic and transitional genomic compartment enriched in poised and polycomb-repressed chromatin. This novel intermediate compartment plays an important role in the modulation of the genome during B cells differentiation and upon neoplastic transformation, specifically in chronic lymphocytic leukemia (CLL) or mantle cell lymphoma (MCL) patients. We also developed TADpole, a computational tool designed to characterize the hierarchy of topologically-associated domains (TADs) using Hi-C interaction matrices. We demonstrated its technical and biological robustness, and its capacity to reveal topological differences in high-resolution capture Hi-C experiments.