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Article

Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability.

American journal of human genetics - 4 Feb 2021

McArthur Evonne, Capra John A

Abstract excerpt

Topologically associating domains (TADs) are fundamental units of three-dimensional (3D) nuclear organization. The regions bordering TADs-TAD boundaries-contribute to the regulation of gene expression by restricting interactions of cis-regulatory sequences to their target genes. TAD and TAD-boundary disruption have been implicated in rare-disease pathogenesis; however, we have a limited framework for integrating...

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Identifiers

PMID: 33545030
DOI: 10.1016/j.ajhg.2021.01.001
PMCID: PMC7895846

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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