PuSH - Publication Server of Helmholtz Zentrum München

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New gene functions in megakaryopoiesis and platelet.

Titel Pressemitteilung:

Genomweite Studie verbessert Verständnis der Blutbildung

Apr 2012 IGE
Gieger PDF PR 2011-12-01
AR 2012-07-01
WB 2012-07-01
Core statement:

Platelets are the second most abundant cell type in blood and are essential for maintaining haemostasis. Their count and volume are tightly controlled within narrow physiological ranges, but there is only limited understanding of the molecular processes controlling both traits. Here we carried out a high-powered meta-analysis of genome-wide association studies (GWAS) in up to 66,867 individuals of European ancestry, followed by extensive biological and functional assessment. We identified 68 genomic loci reliably associated with platelet count and volume mapping to established and putative novel regulators of megakaryopoiesis and platelet formation. These genes show megakaryocyte-specific gene expression patterns and extensive network connectivity. Using gene silencing in Danio rerio and Drosophila melanogaster, we identified 11 of the genes as novel regulators of blood cell formation. Taken together, our findings advance understanding of novel gene functions controlling fate-determining events during megakaryopoiesis and platelet formation, providing a new example of successful translation of GWAS to function

Core statement Pressemitteilung:

Welche Gene zur Bildung von Blutplättchen beitragen, aber auch ein neuer Regulator für die Aufnahme von Eisen aus der Nahrung und neue Erklärungsansätze für die Vererbung von Bluterkrankheiten sind die Ergebnisse einer groß angelegten internationalen Studie unter maßgeblicher Beteiligung des Helmholtz Zentrums München. Die Ergebnisse sind in der aktuellen Ausgabe des renommierten Fachjournals Nature veröffentlicht.

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