Accéder directement au contenu Accéder directement à la navigation
Article dans une revue

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.
Liste complète des métadonnées

Littérature citée [48 références]  Voir  Masquer  Télécharger

https://hal.umontpellier.fr/hal-02543639
Contributeur : Emilie Passerieux <>
Soumis le : mercredi 15 avril 2020 - 14:59:43
Dernière modification le : samedi 18 avril 2020 - 01:40:07

Fichier

Chetaille et al - 2014.pdf
Fichiers produits par l'(les) auteur(s)

Identifiants

Collections

Citation

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⟩

Partager

Métriques

Consultations de la notice

17

Téléchargements de fichiers

11