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Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm
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2014 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 46, no 11, 1245-1249 p.Article in journal (Refereed) Published
Abstract [en]

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-beta 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.

Place, publisher, year, edition, pages
2014. Vol. 46, no 11, 1245-1249 p.
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Medical Genetics
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URN: urn:nbn:se:uu:diva-238437DOI: 10.1038/ng.3113ISI: 000344131900017PubMedID: 25282101OAI: oai:DiVA.org:uu-238437DiVA: diva2:771038
Available from: 2014-12-12 Created: 2014-12-12 Last updated: 2017-12-05Bibliographically approved

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Jonzon, Anders

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