Breaking TADs: How Alterations of Chromatin Domains Result in Disease

Lupiáñez, D. G.; Spielmann, M.; Mundlos, S.

doi:10.1016/j.tig.2016.01.003

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Breaking TADs: How Alterations of Chromatin Domains Result in Disease

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Spielmann, M.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Mundlos, S.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Lupiáñez, D. G., Spielmann, M., & Mundlos, S. (2016). Breaking TADs: How Alterations of Chromatin Domains Result in Disease. Trends in Genetics, 32(4), 225-237. doi:10.1016/j.tig.2016.01.003.

Cite as: https://hdl.handle.net/11858/00-001M-0000-002E-1D1D-D

Abstract

Spatial organization is an inherent property of the vertebrate genome to accommodate the roughly 2m of DNA in the nucleus of a cell. In this nonrandom organization, topologically associating domains (TADs) emerge as a fundamental structural unit that is thought to guide regulatory elements to their cognate promoters. In this review we summarize the most recent findings about TADs and the boundary regions separating them. We discuss how the disruption of these structures by genomic rearrangements can result in gene misexpression and disease.