RUNX1 C-terminal mutations impair blood cell differentiation by perturbing specific enhancer-promoter networks

• Published in: Blood advances Vol. 8; no. 10; pp. 2410 - 2423
• Main Authors: Jayne, Nathan D., Liang, Zhengyu, Lim, Do-Hwan, Chen, Poshen B., Diaz, Cristina, Arimoto, Kei-Ichiro, Xia, Lingbo, Liu, Mengdan, Ren, Bing, Fu, Xiang-Dong, Zhang, Dong-Er
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 28.05.2024; The American Society of Hematology
• Subjects: Blood Cells - metabolism; Cell Differentiation - genetics; Core Binding Factor Alpha 2 Subunit - genetics; Core Binding Factor Alpha 2 Subunit - metabolism; Enhancer Elements, Genetic; Gene Expression Regulation; Gene Regulatory Networks; Humans; Mutation; Myeloid Neoplasia; Promoter Regions, Genetic

•Most RUNX1 mutations outside the RHD are nonsense and frameshift and produce proteins lacking critical RUNX1 regulatory domains.•The truncation of RUNX1 results in the dysregulation of hematopoietic and oncogenic pathways through changes in enhancer-promoter networks. [Display omitted] The transcri...