title: Breaking TADs: How Alterations of Chromatin Domains Result in Disease.
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.
authors: Max Planck Institute for Molecular Genetics, RG Development and Disease, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
authors: Darío G
authors: DG
authors: Lupiáñez
authors: Max Planck Institute for Molecular Genetics, RG Development and Disease, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
authors: Malte
authors: M
authors: Spielmann
authors: Max Planck Institute for Molecular Genetics, RG Development and Disease, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address: mundlos@molgen.mpg.de.
authors: Stefan
authors: S
authors: Mundlos
mesh_terms: D002843:Chromatin / Q000737:chemistry* / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans
chemical_list: D002843:Chromatin
keywords: CRISPR/Cas; TAD; disease; long-range regulation; structural variations; topologically associating domains