In vivo deletion of a GWAS-identified Myb distal enhancer acts on Myb expression, globin switching, and clinical erythroid parameters in beta-thalassemia
Virginie Deleuze, Tharshana Stephen, Mohammad Salma, Cédric Orfeo, Ruud Jorna, Alex Maas, Vilma Barroca, Marie-Laure Arcangeli, Charles‐Henri Lecellier, Charlotte Andrieu‐Soler, Frank G. Grosveld, Éric Soler
The paper investigates the functional impact of a GWAS-identified Myb enhancer in beta-thalassemia by generating a knock-out mouse model and analyzing its effects on erythropoiesis and clinical parameters.
Scientific Reports · Mar 15, 2025Peer-reviewedGenetics