Higher-order Chromatin Organization in Diseases, from Chromosomal Position Effect to Phenotype Variegation
| Autor: | Jérôme D. Robin, Frédérique Magdinier |
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| Rok vydání: | 2023 |
| Předmět: |
0301 basic medicine
Genetics Euchromatin Biology Position-effect variegation Genome Chromatin 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Position effect Evolutionary biology Epigenetics Scaffold/matrix attachment region 030217 neurology & neurosurgery ChIA-PET |
| Zdroj: | Handbook of Epigenetics ISBN: 9780323919098 |
| Popis: | One of the most intriguing phenomena of epigenetics is the dynamic nature of chromatin. Chromatin conformation can spread over large regions of the genome. Chromatin regulation involves finely tuned processes, including long-distance interactions. It becomes more and more clear that not only the three-dimensional organization of genomic domains, but also four-dimensional regulation of these domains in space and time contribute to genome regulation. In eukaryotic genomes, besides noncoding regions, regulatory elements can extend their influence outside of a transcription unit and reside within an independently regulated locus. Thus, sequences with different functions or spatiotemporal activities are juxtaposed next to one another. Affecting this equilibrium by changing their relative positioning represents a risk in the maintenance of chromatin architecture, gene regulation, and in turn, the fate of a cell. Position effect mechanisms, first discovered and described in model organisms, remain poorly investigated in human pathology. However, common themes are emerging from the review of fundamental research and clinical observations, which are the focus of this chapter. |
| Databáze: | OpenAIRE |
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