Alan Nurden։ How Aberrant Splicing Disrupts Megakaryocyte Development in TAR Syndrome
Alan Nurden, Emeritus Research Director at CNRS, Co-Founder of the French National Reference Centre for Inherited Platelet Disorders (CRPP), shared a post on LinkedIn about a recent article by Catriana C. Nations et al, published in Blood Vessels, Thrombosis and Hemostasis, adding:
”This high quality manuscript recently published in Blood VTH by Catriana Nations and her colleagues from Boston and with contributions from a series of highly reputed national and international researchers uses an iPSC model to show how aberrant splicing results in impaired megakaryopoiesis in the TAR (thrombocytopenia-absent radius syndrome) essentially known for its skeletal malformations at birth.
The subject is complex and involves the correction of the aberrant function of the exon junction complex member (RBM8A) and of its core factor, Y14.
Genome-wide expression analysis revealed abnormal gene expression in apoptosis and cell cycle pathways and a gene selective precocious switch in splicing with an alternative first exon event.
The authors conclude that the low platelet number in TAR is due to lack of proliferation, premature maturation and early death of megakaryocytes and their progenitors.
Despite the complexity, the article is easy to read and I recommend it to all who work on platelets and their disorders.
Congratulations to contributors.
Highly recommended.”
Title: An iPSC model of thrombocytopenia-absent radius syndrome links aberrant splicing to impaired megakaryopoiesis
Authors: Catriana C. Nations, Jenea I. Adams, Nicole Debruyne, Xiuli Sim, Hyun Sook Ahn, C. J. Willett, James Warland, Cedric Ghevaert, Kathleen Freson, Giulia Pavani, Deborah L. French, Mortimer Poncz, Yi Xing, Lan Lin, Paul J. Gadue
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