A Polymer Physics Model to Dissect Genome Organization in Healthy and Pathological Phenotypes.

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.

journal_name

Methods Mol Biol

authors

Conte M,Fiorillo L,Bianco S,Chiariello AM,Esposito A,Musella F,Flora F,Abraham A,Nicodemi M

doi

10.1007/978-1-0716-1390-0_16

keywords:

["Genome organization","Pathological phenotype","Polymer physics","Predictive models","Structural variants"]

subject

Has Abstract

pub_date

2022-01-01 00:00:00

pages

307-316

eissn

1064-3745

issn

1940-6029

journal_volume

2301

pub_type

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