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Review
. 2016 Apr;32(4):225-237.
doi: 10.1016/j.tig.2016.01.003. Epub 2016 Feb 7.

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

Darío G Lupiáñez  1 , Malte Spielmann  1 , Stefan Mundlos  2
Affiliations
Review

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

Darío G Lupiáñez et al. Trends Genet. 2016 Apr.

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.

Keywords: CRISPR/Cas; TAD; disease; long-range regulation; structural variations; topologically associating domains.

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