Article

Affinity-optimizing variants within cardiac enhancers disrupt heart development and contribute to cardiac traits

2022-05-29

Abstract excerpt

<h4>Summary</h4> Enhancers direct precise gene expression patterns during development and harbor the majority of variants associated with disease. We find that suboptimal affinity ETS transcription factor binding sites are prevalent within Ciona and human developmental heart enhancers. Here we demonstrate in two diverse systems, Ciona intestinalis and human iPSC-derived cardiomyocytes (iPSC-CMs), that single nu...

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Literature Corpus work: c24b7945-f69d-5d5d-89d8-a7445ec56931
DOI: 10.1101/2022.05.27.493636

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