{"id":9770,"date":"2018-05-08T14:38:33","date_gmt":"2018-05-08T12:38:33","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=9770"},"modified":"2018-05-08T14:38:33","modified_gmt":"2018-05-08T12:38:33","slug":"gene-of-the-month-april-epo","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-april-epo\/","title":{"rendered":"Gene of the Month &#8211; April: EPO"},"content":{"rendered":"<p>Scientists from Norway and Switzerland uncovered for the first time a mutation in <em>EPO<\/em>, the gene encoding erythropoetin, as the genetic cause of an autosomal dominantly inherited form of erythrocytosis in a family with 10 affected members in four generations. The patients presented with symptoms of headache and dizziness and had increased hemoglobin levels and elevated erythropoietin concentrations in serum. The researchers performed genome-wide linkage analysis and then targeted sequencing of 215 genes and identified a heterozygous single-nucleotide deletion in <em>EPO <\/em>leading to a frameshift that interrupts translation of the transcript. This would suggest a loss of protein function, but, instead, subsequent functional analyses using for example CRISPR technology revealed a surprising scenario: As a result of the mutation another, normally noncoding mRNA is transcribed from an alternative promoter, producing a biologically active erythropoietin which causes the phenotype of an EPO overproduction. The researchers confirmed their results in a second family who also carried a single-nucleotide deletion in EPO.<\/p>\n<p>The results of this study were published in <em>The New England Journal of Medicine<\/em>.<\/p>\n[vc_column_text]Zmajkovic J, Lundberg P, Nienhold R, Torgersen ML, Sundan A, Waage A, Skoda RC. A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. <em>N Engl J Med<\/em>. 2018 Mar 8;378(10):924-930. doi: 10.1056\/NEJMoa1709064. [Epub ahead of print][\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29514032&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>Scientists from Norway and Switzerland uncovered for the first time a mutation in EPO, the gene encoding erythropoetin, as the genetic cause of an autosomal dominantly inherited form of erythrocytosis in a family with 10 affected members in four generations. The patients presented with symptoms of headache and dizziness and had increased hemoglobin levels and [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-9770","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene of the Month - April: EPO - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-april-epo\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month - April: EPO - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Scientists from Norway and Switzerland uncovered for the first time a mutation in EPO, the gene encoding erythropoetin, as the genetic cause of an autosomal dominantly inherited form of erythrocytosis in a family with 10 affected members in four generations. 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