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Genome-wide study sheds light on platelet formation02 February 2012
Blood platelets are essential for maintaining haemostasis, the process that limits blood loss after injury, but how the body controls platelet volume and count is not fully understood. A study published in the journal Nature by a major international research consortium has shed light on key molecular processes that control the formation of megakaryocytes - the cells that produce platelets in bone marrow - and of platelets themselves.
In a high-powered meta-analysis of several genome-wide association studies (GWAS) that included thousands of individuals, the researchers identified several regions of the genome that are involved in regulating both the formation of cells that give rise to platelets (megakaryopoiesis) and of platelets themselves. By turning off genes in this region in zebrafish and fruit flies, they were able to identify 11 genes that regulate blood-cell formation.
"The Reactome and IntAct teams helped build the protein interaction network," said Jyoti Khadake of EMBL-EBI's Proteomics Services Team. "This was one way that the larger study could extend the data from the many SNP studies - we could look beyond the variation to functional significance by looking at interactions and protein pathways. Honestly, it was really fun building up these networks! This study underscores how bioinformatics data resources can take a research project to a whole new level."
"The Reactome pathway resource and the IntAct interaction database provided the metadata we needed to put together a network that included most of the novel genes in this GWAS," added Steve Jupe of EMBL-EBI. "Apart from being technically interesting, it was really exciting to see how GWAS results can be combined with pathways to help us understand function better. In this case it also pointed us to potential new targets for the treatment of haematological disorders, which is very promising."
One major output of the study is a freely available knowledge base of known and novel genes that are involved in platelet formation. The resource will be invaluable in the study of megakaryocyte and platelet biology.
Read more about the paper on the Wellcome Trust Sanger Institute’s website Read the paper in Nature: Gieger, C., et al. (2011) New gene functions in megakaryopoiesis and platelet formation. Nature 480, 201–208. doi:10.1038/nature10659.
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