This PhD thesis concerns the application of polymer physics to investigate the mechanisms underlying the 3D organization of chromosomes in mammalian genomes. Chromosome architecture has in fact a crucial role in vital biological functions and its abnormal folding is often linked to severe human diseases. Yet, a unified quantitative framework describing the spatial chromatin organization is still lacking. The polymer models developed in this work allow to obtain highly accurate 3D reconstructions of specific genomic regions and have been employed in particular to predict the effects on chromosome structure of genetic rearrangements, such as deletions, insertions and duplications, often linked to diseases.
Polymer physics models of the chromatin spatial organization in the cell nucleus
2017
Abstract
This PhD thesis concerns the application of polymer physics to investigate the mechanisms underlying the 3D organization of chromosomes in mammalian genomes. Chromosome architecture has in fact a crucial role in vital biological functions and its abnormal folding is often linked to severe human diseases. Yet, a unified quantitative framework describing the spatial chromatin organization is still lacking. The polymer models developed in this work allow to obtain highly accurate 3D reconstructions of specific genomic regions and have been employed in particular to predict the effects on chromosome structure of genetic rearrangements, such as deletions, insertions and duplications, often linked to diseases.| File | Dimensione | Formato | |
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https://hdl.handle.net/20.500.14242/141196
URN:NBN:IT:UNINA-141196