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Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm

Abstract : The pacemaking activity of specialized tissues in the heart and gut results in lifelong rhythmic contractions. Here we describe a new syndrome characterized by Chronic Atrial and Intestinal Dysrhythmia, termed CAID syndrome, in 16 French Canadians and 1 Swede. We show that a single shared homozygous founder mutation in SGOL1, a component of the cohesin complex, causes CAID syndrome. Cultured dermal fibroblasts from affected individuals showed accelerated cell cycle progression, a higher rate of senescence and enhanced activation of TGF-b signaling. Karyotypes showed the typical railroad appearance of a centromeric cohesion defect. Tissues derived from affected individuals displayed pathological changes in both the enteric nervous system and smooth muscle. Morpholino-induced knockdown of sgol1 in zebrafish recapitulated the abnormalities seen in humans with CAID syndrome. Our findings identify CAID syndrome as a novel generalized dysrhythmia, suggesting a new role for SGOL1 and the cohesin complex in mediating the integrity of human cardiac and gut rhythm.
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Soumis le : mercredi 15 avril 2020 - 14:59:43
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Chetaille et al - 2014.pdf
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Philippe Chetaille, Christoph Preuss, Silja Burkhard, Jean Marc Cote, Christine Houde, et al.. Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. Nature Genetics, Nature Publishing Group, 2014, ⟨10.1038/ng.3113⟩. ⟨hal-02543639⟩



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