Moores Cancer Center, Department of Pathology and Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA.
Front Biosci (Landmark Ed). 2012 Jan 1;17(3):1120-39. doi: 10.2741/3977.
RUNX1 is a transcription factor that regulates critical processes in many aspects of hematopoiesis. RUNX1 is also integral in defining the definitive hematopoietic stem cell. In addition, many hematological diseases like myelodysplastic syndrome and myeloproliferative neoplasms have been associated with mutations in RUNX1. Located on chromosomal 21, the RUNX1 gene is involved in many forms of chromosomal translocations in leukemia. t(8;21) is one of the most common chromosomal translocations found in acute myeloid leukemia (AML), where it results in a fusion protein between RUNX1 and ETO. The RUNX1-ETO fusion protein is found in approximately 12% of all AML patients. In this review, we detail the structural features, functions, and models used to study both RUNX1 and RUNX1-ETO in hematopoiesis over the past two decades.
RUNX1 是一种转录因子，可调节造血过程多方面的关键过程。RUNX1 对于定义确定性造血干细胞也很重要。此外，许多血液疾病，如骨髓增生异常综合征和骨髓增殖性肿瘤，都与 RUNX1 突变有关。RUNX1 基因位于染色体 21 上，参与白血病中多种形式的染色体易位。t(8;21)是急性髓系白血病 (AML)中最常见的染色体易位之一，它导致 RUNX1 和 ETO 之间形成融合蛋白。RUNX1-ETO 融合蛋白约存在于所有 AML 患者的 12%中。在这篇综述中，我们详细介绍了过去二十年来用于研究造血过程中的 RUNX1 和 RUNX1-ETO 的结构特征、功能和模型。
