GSE132836 A variant erythroferrone disrupts iron homeostasis in SF3B1-mutated myelodysplastic syndrome (RNA-Seq)

Contributors : Sabrina Bondu ; Anne-Sophie Alary ; Carine Lef èvre ; Alexandre Houy ; Grace Jung ; Thibaud Lefebvre ; David Rombaut ; Ismael Boussaid ; Abderrahmane Bousta ; François Guillonneau ; Prunelle Perrier ; Samar Alsafadi ; Michel Wassef ; Raphaël Margueron ; Alice Rousseau ; Nathalie Droin ; Nicolas Cagnard ; Sophie Kaltenbach ; Sus ann Winter ; Anne-Sophie Kubasch ; Didier Bouscary ; Valeria Santini ; Andrea Toma ; Mathilde Hunault ; Aspasia Stamatoullas ; Emmanuel Gyan ; Thomas Cluzeau ; Uwe Platzbecker ; Lionel Adès ; Hervé Puy ; Marc-Henri Stern ; Zoubida Karim ; Patrick Mayeux ; Elizabeta Nemeth ; Sophie Park ; Tomas Ganz ; Léon Kautz ; Olivier Kosmider ; Michaëla FontenaySeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensMyelodysplastic syndromes (MDS) with ring sideroblasts are hematopoietic stem celldisorders with erythroid dysplasia and mutations in the SF3B1 splicing factor gene. MDS patientswith SF3B1 mutations often accumulate excessive tissue iron, even in the absence oftransfusions, but the mechanisms that are responsible for their parenchymal iron overload areunknown. Body iron content, tissue distribution, and the supply of iron for erythropoiesis arecontrolled by the hormone hepcidin, which is regulated by erythroblasts through secretion of theerythroid hormone erythroferrone (ERFE). Here, we identified an alternative ERFE transcript inMDS patients with the SF3B1 mutat...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research