GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis.

Paul SaultierSandrine CabantousMichel Pucéat Franck PeirettiTimothée BigotNoémie SautJean-Claude BordetMatthias CanaultJohannes van AgthovenMarie LoosveldDominique Payet-Bornet Delphine PotierCéline FalaiseDenis BernotPierre-Emmanuel Morange Marie-Christine Alessi Marjorie Poggi

Published in: Journal of thrombosis and haemostasis : JTH (2021)

The discovery of an association between MYH10 and GATA1 is a novel one. Overall, this study suggests that impaired MYH10 silencing via an intronic regulatory element is the most likely cause of GATA1-related polyploidization defect.

Keyphrases

transcription factor
hypertrophic cardiomyopathy
left ventricular
small molecule
copy number
high throughput
gene expression
single cell