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Structural variation in the 3D genome

Item Type:Review
Title:Structural variation in the 3D genome
Creators Name:Spielmann, M. and Lupiáñez, D.G. and Mundlos, S.
Abstract:Structural and quantitative chromosomal rearrangements, collectively referred to as structural variation (SV), contribute to a large extent to the genetic diversity of the human genome and thus are of high relevance for cancer genetics, rare diseases and evolutionary genetics. Recent studies have shown that SVs can not only affect gene dosage but also modulate basic mechanisms of gene regulation. SVs can alter the copy number of regulatory elements or modify the 3D genome by disrupting higher-order chromatin organization such as topologically associating domains. As a result of these position effects, SVs can influence the expression of genes distant from the SV breakpoints, thereby causing disease. The impact of SVs on the 3D genome and on gene expression regulation has to be considered when interpreting the pathogenic potential of these variant types.
Keywords:Chromatin, DNA Copy Number Variations, Gene Dosage, Gene Expression Regulation, Human Genome
Source:Nature Reviews Genetics
Publisher:Nature Publishing Group
Page Range:453-467
Date:July 2018
Official Publication:https://doi.org/10.1038/s41576-018-0007-0
PubMed:View item in PubMed

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