TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

• Published in: Nature communications Vol. 15; no. 1; pp. 3380 - 15
• Main Authors: Baudic, Manon, Murata, Hiroshige, Bosada, Fernanda M., Melo, Uirá Souto, Aizawa, Takanori, Lindenbaum, Pierre, van der Maarel, Lieve E., Guedon, Amaury, Baron, Estelle, Fremy, Enora, Foucal, Adrien, Ishikawa, Taisuke, Ushinohama, Hiroya, Jurgens, Sean J., Choi, Seung Hoan, Kyndt, Florence, Le Scouarnec, Solena, Wakker, Vincent, Thollet, Aurélie, Rajalu, Annabelle, Takaki, Tadashi, Ohno, Seiko, Shimizu, Wataru, Horie, Minoru, Kimura, Takeshi, Ellinor, Patrick T., Petit, Florence, Dulac, Yves, Bru, Paul, Boland, Anne, Deleuze, Jean-François, Redon, Richard, Le Marec, Hervé, Le Tourneau, Thierry, Gourraud, Jean-Baptiste, Yoshida, Yoshinori, Makita, Naomasa, Vieyres, Claude, Makiyama, Takeru, Mundlos, Stephan, Christoffels, Vincent M., Probst, Vincent, Schott, Jean-Jacques, Barc, Julien
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 20.04.2024; Nature Publishing Group; Nature Portfolio
• Series: Nature Communications
• Subjects: 38/15; 38/39; 38/47; 38/91; 45/100; 45/23; 631/208/176; 64/60; 692/4019/592/2727; Binding sites; Cardiomyocytes; Chromatin remodeling; Conformation; Gene deletion; Gene regulation; Genomes; Heart; Hereditary diseases; Homeobox; Humanities and Social Sciences; Life Sciences; multidisciplinary; Phenotypes; Pluripotency; Science; Science (multidisciplinary); Stem cells; Ventricle

While 3D chromatin organization in topologically associating domains (TADs) and loops mediating regulatory element-promoter interactions is crucial for tissue-specific gene regulation, the extent of their involvement in human Mendelian disease is largely unknown. Here, we identify 7 families present...