U2AF1
小结
U2AF1是致癌基因，编码蛋白（U2小核RNA辅助因子1）是剪接因子亚单位蛋白U2AF35，它与其结合配偶体U2AF65一起调节前体RNA中去除内含子以产生成熟mRNA。U2AF1蛋白对组成型的和增强子依赖的剪接是必需的，其可以募集整个U2AF复合物到即将被剪接的前体RNA内含子的3'端。在恶性血液病检测到U2AF1基因的突变，如骨髓增生异常综合征（MDS）和急性髓性白血病（AML）或慢性粒单核细胞白血病（CMML）中。研究表明，U2AF1基因突变发生在继发性急性髓系白血病（s-AML）早期，并且可以在疾病进展期间持续存在。
U2AF1 (U2 small nuclear RNA auxiliary factor 1) is the splicing factor subunit protein, U2AF35, which together with its binding partner, U2AF65, regulates the removal of introns from pre-mRNAs to produce mature mRNAs that will be translated during protein synthesis. The U2AF1 protein is essential for constitutive and enhancer-dependent splicing since it recruits the whole U2AF complex to the 3' end of the pre-mRNA intron that will be spliced. Mutations in the U2AF1 gene have been found recurrently similarly in hematological malignancies such as myelodysplastic syndromes (MDS) and Acute Myeloid Leukemia (AML) or Chronic Myelomonocytic leukemia (CMML). Interestingly it has been proposed that mutations in RNA splicing genes are drivers of the transition from MDS to different sort of myeloid leukemias. Therefore, the U2AF1 protein has been proposed as a potential therapeutic target. Importantly, it has been shown that mutations in the U2AF1 gene happen early in leukemia development as it has been shown in secondary acute myeloid leukemia (s-AML) and can persist during disease progression.