In vivo deletion of a GWAS-identified Myb distal enhancer acts on Myb expression, globin switching, and clinical erythroid parameters in β-thalassemia.

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Tác giả: Charlotte Andrieu-Soler, Marie-Laure Arcangeli, Vilma Barroca, Virginie Deleuze, Frank Grosveld, Ruud Jorna, Charles-Henri Lecellier, Alex Maas, Cédric Orfeo, Mohammad Salma, Eric Soler, Tharshana Stephen

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : Scientific reports , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 714262

Genome-wide association studies (GWAS) have identified numerous genetic variants linked to human diseases, mostly located in non-coding regions of the genome, particularly in putative enhancers. However, functional assessment of the non-coding GWAS variants has progressed at slow pace, since the functions of the vast majority of genomic enhancers have not been defined, impeding interpretation of disease-susceptibility variants. The HBS1L-MYB intergenic region harbors multiple SNPs associated with clinical erythroid parameters, including fetal hemoglobin levels, a feature impacting disease severity of beta-hemoglobinopathies such as sickle cell anemia and beta-thalassemia. HBS1L-MYB variants cluster in the vicinity of several MYB enhancers, altering MYB expression and globin switching. We and others have highlighted the conserved human MYB - 84kb enhancer, known as the - 81kb enhancer in the mouse, as likely candidate linked to these traits. We report here the generation of a Myb - 81kb enhancer knock-out mouse model, and shed light for the first time on its impact on steady state erythropoiesis and in beta-thalassemia in vivo.
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