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Order and disorder: abnormal 3D chromatin organization in human disease

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Item Type:Review
Title:Order and disorder: abnormal 3D chromatin organization in human disease
Creators Name:Anania, C. and Lupianez, D.G.
Abstract:A precise three-dimensional (3D) organization of chromatin is central to achieve the intricate transcriptional patterns that are required to form complex organisms. Growing evidence supports an important role of 3D chromatin architecture in development and delineates its alterations as prominent causes of disease. In this review, we discuss emerging concepts on the fundamental forces shaping genomes in space and on how their disruption can lead to pathogenic phenotypes. We describe the molecular mechanisms underlying a wide range of diseases, from the systemic effects of coding mutations on 3D architectural factors, to the more tissue-specific phenotypes resulting from genetic and epigenetic modifications at specific loci. Understanding the connection between the 3D organization of the genome and its underlying biological function will allow a better interpretation of human pathogenesis.
Keywords:3D Chromatin Organization, Epigenetics, Disease, Long-Range Gene Regulation
Source:Briefings in Functional Genomics
ISSN:2041-2649
Publisher:Oxford University Press
Date:6 February 2020
Additional Information:Copyright © The Author(s) 2020. Published by Oxford University Press.
Official Publication:https://doi.org/10.1093/bfgp/elz028
PubMed:View item in PubMed

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