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Platelet function modified by megakaryocyte super enhancer sequence variation

last modified Aug 03, 2017 01:35 PM

A collaboration between the University of Cambridge, Wellcome Trust Sanger Institute, and Babraham Institute, has shed light on the mechanism behind the association of genetic variation and platelet function.

Led by Dr Mattia Frontini, the researchers have shown that common genetic variants associated with platelet traits (count, volume, mass) influence the propensity of platelets to clot. Genetic variation in a particular type of gene regulatory element, called super enhancers, modify the level of expression of the connected genes and, consequently, their protein product. This process affect cellular phenotypes, in this case thrombus formation, one of the leading causes of death worldwide.

The team have also shown that, because regulatory elements are in the genome 3-dimensional landscape, they interact with more than one gene and can therefore have the opposite effect, highlighting the need to study gene regulation in its natural context.

Finally, by physically linking genes to regulatory elements, the researchers have implicated a large number of novel genes in the process of platelet formation.

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