Dose-dependent sensitivity of human three-dimensional chromatin to a heart disease–linked transcription factor

doi:10.1126/science.adv5434

Dose-dependent sensitivity of human three-dimensional chromatin to a heart disease–linked transcription factor

2026-07-23

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Katherine S. Pollard *

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Benoit G. Bruneau *

DOI：10.1126/science.adv5434

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Haploinsufficient mutations of transcription factors (TFs) resulting in reduced gene dosage are an underlying cause of human genetic developmental disorders affecting diverse tissue and cell types. These mutations impact transcriptional regulation and subsequent lineage specification, but exactly how they exert these effects has remained unclear despite decades of study. One key mechanism regulating cell type–specific gene expression is the reorganization of three-dimensional (3D) chromatin during cellular differentiation. In recent years, lineage-specific TFs have emerged as important factors controlling cell type–specific 3D chromatin interactions alongside the ubiquitously expressed loop extrusion complex cohesin and the boundary-associated factor CTCF.

Dose-dependent sensitivity of human three-dimensional chromatin to a heart disease–linked transcription factor

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