Genomics and transcriptomics of megakaryocytes and platelets: Implications for health and disease

Marlie H. Fisher, Jorge Di Paola

Research output: Contribution to journalReview articlepeer-review

12 Scopus citations

Abstract

The field of megakaryocyte and platelet biology has been transformed with the implementation of high throughput sequencing. The use of modern sequencing technologies has led to the discovery of causative mutations in congenital platelet disorders and has been a useful tool in uncovering many other mechanisms of altered platelet formation and function. Although the understanding of the presence of RNA in platelets is relatively novel, mRNA and miRNA expression profiles are being shown to play an increasingly important role in megakaryopoiesis and platelet function in normal physiology as well as in disease states. Understanding the genetic perturbations underlying platelet dysfunction provides insight into normal megakaryopoiesis and thrombopoiesis, as well as guiding the development of novel therapeutics.

Original languageEnglish
Pages (from-to)630-639
Number of pages10
JournalResearch and Practice in Thrombosis and Haemostasis
Volume2
Issue number4
DOIs
StatePublished - Oct 2018

Keywords

  • congenital platelet disorders
  • genomics
  • megakaryocytes
  • platelets
  • RNA

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