A polymer physics model to dissect genome organization in healthy and pathological phenotypes

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Item Type:	Article
Title:	A polymer physics model to dissect genome organization in healthy and pathological phenotypes
Creators Name:	Conte, M., Fiorillo, L., Bianco, S., Chiariello, A.M., Esposito, A., Musella, F., Flora, F., Abraham, A. and Nicodemi, M.
Abstract:	Novel technologies revealed a nontrivial spatial organization of the chromosomes within the cell nucleus, which includes different levels of compartmentalization and architectural patterns. Notably, such complex three-dimensional structure plays a crucial role in vital biological functions and its alterations can produce extensive rewiring of genomic regulatory regions, thus leading to gene misexpression and disease. Here, we show that theoretical and computational approaches, based on polymer physics, can be employed to dissect chromatin contacts in three-dimensional space and to predict the effects of pathogenic structural variants on the genome architecture. In particular, we discuss the folding of the human EPHA4 and the murine Pitx1 loci as case studies.
Keywords:	Genome Organization, Polymer Physics, Structural Variants, Predictive Models, Pathological Phenotype, Animals, Mice
Source:	Methods in Molecular Biology
Series Name:	Methods in Molecular Biology
Title of Book:	Hi-C data analysis : methods and protocols
ISSN:	1064-3745
ISBN:	978-1-0716-1392-4
Publisher:	Springer / Humana Press
Volume:	2301
Page Range:	307-316
Date:	2022
Official Publication:	https://doi.org/10.1007/978-1-0716-1390-0_16
PubMed:	View item in PubMed

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