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Structural variation in the 3D genome

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Spielmann,  Malte
Human Molecular Genomics (Malte Spielmann), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;
Department of Genome Sciences, University of Washington, Seattle, WA, USA;

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Mundlos,  Stefan
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;
Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany;

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Citation

Spielmann, M., Lupiáñez, D. G., & Mundlos, S. (2018). Structural variation in the 3D genome. Nature Reviews Genetics, 19(7), 453-467. doi:10.1038/s41576-018-0007-0.


Cite as: https://hdl.handle.net/21.11116/0000-0003-610A-5
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.