Journal article

A neural crest origin for cohesinopathy heart defects.

Kevin Schuster, Bryony Leeke, Michael Meier, Yizhou Wang, Trent Newman, Sean Burgess, Julia A Horsfield

Human Molecular Genetics | Published : 2015


Mutations in subunits or regulators of cohesin cause a spectrum of disorders in humans known as the 'cohesinopathies'. Cohesinopathies, including the best known example Cornelia de Lange syndrome (CdLS), are characterized by broad spectrum, multifactorial developmental anomalies. Heart defects occur at high frequency and can reach up to 30% in CdLS. The mechanisms by which heart defects occur are enigmatic, but assumed to be developmental in origin. In this study, we depleted cohesin subunit Rad21 by 70-80% in a zebrafish cohesinopathy model. The hearts of Rad21-depleted animals were smaller, often failed to loop, and functioned less efficiently than size-matched controls. Functional deficie..

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University of Melbourne Researchers