دورية أكاديمية
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm
| العنوان: | Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm |
|---|---|
| المؤلفون: | Chetaille, Philippe, Preuss, Christoph, Burkhard, Silja, Côté, Jean-Marc, Houde, Christine, Castilloux, Julie, Piché, Jessica, Gosset, Natacha, Leclerc, Séverine, Wünnemann, Florian, Thibeault, Maryse, Gagnon, Carmen, Galli, Antonella, Tuck, Elizabeth, Hickson, Gilles R, El Amine, Nour, Boufaied, Ines, Lemyre, Emmanuelle, de Santa Barbara, Pascal, Faure, Sandrine, Jonzon, Anders, Cameron, Michel, Dietz, Harry C, Gallo-McFarlane, Elena, Benson, D Woodrow, Moreau, Claudia, Labuda, Damian, Zhan, Shing H, Shen, Yaoqing, Jomphe, Michèle, Jones, Steven J M, Bakkers, Jeroen, Andelfinger, Gregor |
| المصدر: | Chetaille , P , Preuss , C , Burkhard , S , Côté , J-M , Houde , C , Castilloux , J , Piché , J , Gosset , N , Leclerc , S , Wünnemann , F , Thibeault , M , Gagnon , C , Galli , A , Tuck , E , Hickson , G R , El Amine , N , Boufaied , I , Lemyre , E , de Santa Barbara , P , Faure , S , Jonzon , A , Cameron , M , Dietz , H C , Gallo-McFarlane , .... |
| سنة النشر: | 2014 |
| المجموعة: | KNAW: Research Explorer (Koninklijke Nederlandse Akademie van Wetenschappen / Royal Netherlands Academy of Arts and Sciences) |
| مصطلحات موضوعية: | Abnormalities, Multiple, Animals, Arrhythmias, Cardiac, Cell Cycle, Cell Cycle Proteins, Chromosomal Proteins, Non-Histone, Enteric Nervous System, Fibroblasts, Founder Effect, Gastrointestinal Tract, Gene Knockdown Techniques, Humans, Intestinal Diseases, Karyotyping, Muscle Contraction, Muscle, Smooth, Vascular, Mutation, Quebec, Signal Transduction, Syndrome, Transforming Growth Factor beta, Zebrafish |
| الوصف: | 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-β 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://pure.knaw.nl/portal/en/publications/4bd2cb01-cf96-4daa-b136-44b4514ddcddTest |
| DOI: | 10.1038/ng.3113 |
| الإتاحة: | https://doi.org/10.1038/ng.3113Test https://doi.org/20.500.11755/4bd2cb01-cf96-4daa-b136-44b4514ddcddTest https://pure.knaw.nl/portal/en/publications/4bd2cb01-cf96-4daa-b136-44b4514ddcddTest https://hdl.handle.net/20.500.11755/4bd2cb01-cf96-4daa-b136-44b4514ddcddTest |
| حقوق: | info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsbas.3D7F86B2 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/ng.3113 |
|---|