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Review
. 2019 Jun:90:104-113.
doi: 10.1016/j.semcdb.2018.07.005. Epub 2018 Jul 17.

The role of 3D genome organization in disease: From compartments to single nucleotides

Abhijit Chakraborty  1 , Ferhat Ay  2
Affiliations
Review

The role of 3D genome organization in disease: From compartments to single nucleotides

Abhijit Chakraborty et al. Semin Cell Dev Biol. 2019 Jun.

Abstract

Since the advent of the chromosome conformation capture technology, our understanding of the human genome 3D organization has grown rapidly and we now know that human interphase chromosomes are folded into multiple layers of hierarchical structures and each layer can play a critical role in transcriptional regulation. Alterations in any one of these finely-tuned layers can lead to unwanted cascade of molecular events and ultimately drive the manifestation of diseases and phenotypes. Here we discuss, starting from chromosome level organization going down to single nucleotide changes, recent studies linking diseases or phenotypes to changes in the 3D genome architecture.

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Figures

Figure 1.
Figure 1.
Panel A shows the overall hierarchical genome organization of human genome. Panel B shows the link between different genetic and epigenetic factors (left) and different human diseases (right) mediated through changes in different layers of the genome organization (mid).
See this image and copyright information in PMC

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