12月8日，Nature雜志在線發(fā)表了來自法,、英,、美、意等多國研究人員的研究成果,，研究發(fā)現(xiàn)53個基因組位點,，它們與血小板的數(shù)量和體積有可靠關(guān)聯(lián)。
血小板參與止血作用,，血小板的數(shù)量和體積受到嚴格控制,。研究者對在超過65,000人當(dāng)中進行的全基因組關(guān)聯(lián)研究的結(jié)果所做的這項“元分析”，識別出53個基因組位點,，它們與血小板的數(shù)量和體積有可靠關(guān)聯(lián),。這些位點優(yōu)先與基因編碼區(qū)域?qū)?yīng)，其中很多都在一個“蛋白-蛋白”相互作用網(wǎng)絡(luò)中,。用斑馬魚和果蠅所做的功能實驗表明,，這些新發(fā)現(xiàn)的基因當(dāng)中有11個編碼血細胞形成過程的新穎調(diào)控因子。（生物谷Bioon.com）
doi:10.1038/nature10659
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New gene functions in megakaryopoiesis and platelet formation
Christian Gieger, Aparna Radhakrishnan, Ana Cvejic, Weihong Tang, Eleonora Porcu, Giorgio Pistis, Jovana Serbanovic-Canic, Serena Sanna, Andrew A. Hicks, Augusto Rendon, Manuel A. Ferreira, Willem H. Ouwehand & Nicole Soranzo
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.
