Evolutionary insights into primate gene regulation and development of methods to study DNA modifications
Changes in the epigenetic regulation of gene expression have important implications for evolution. However, the study of these changes (i) has not been consistently assessed across closely related species, (ii) oftentimes has ignored evolutionarily relevant genomic regions, and (iii) has been limite...
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| Format: | doctoral thesis |
| Status: | Published version |
| Publication Date: | 2023 |
| Country: | España |
| Institution: | CBUC, CESCA |
| Repository: | TDR. Tesis Doctorales en Red |
| OAI Identifier: | oai:www.tdx.cat:10803/688164 |
| Online Access: | http://hdl.handle.net/10803/688164 |
| Access Level: | Open access |
| Keyword: | Gene regulation Primates Methylation Long-read sequencing EOH-seq Regulació de gens Primats Metilació Seqüenciació de lectura llarga 575 |
| Summary: | Changes in the epigenetic regulation of gene expression have important implications for evolution. However, the study of these changes (i) has not been consistently assessed across closely related species, (ii) oftentimes has ignored evolutionarily relevant genomic regions, and (iii) has been limited to specific epigenetic features. In this thesis, we have explored gene regulation through the lens of primate evolution and human populations. Namely, we characterized a panel of lymphoblastoid cell lines (LCL) from five primates and highlighted the particularly relevant role of weak regulatory elements in evolution. We then studied DNA methylation, a particular epigenetic mechanism, in a structurally complex chromosome –the Y chromosome– across 7 major human haplogroups. Finally, we developed an experimental methodology to detect and discriminate different DNA modifications. Specifically, we present EOH-seq and sEM-seq, two complementary methods for the whole-genome study of 5hmC and 5mC that can be applied to a variety of different conditions, cell types, and species. |
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