RUNX1
小结
RUNX1是抑癌基因，也称为AML1或CBFA2，编码蛋白是一种转录因子，是参与造血分化的主要调节因子。它与转录复合物的多个子集相互作用，可通过募集组蛋白乙酰转移酶或甲基转移酶而作为转录激活剂，或通过募集组蛋白去乙酰化酶或多梳抑制复合物1（PRC1）而作为阻遏物。RUNX1通过选择性剪接、泛素化、磷酸化、乙酰化和甲基化被高度调节，这在癌症中具有重要的调控作用。RUNX1在急性髓性白血病（AML）、骨髓增生异常综合征（MDS）、急性淋巴细胞白血病（ALL）和倾向发展为急性髓系白血病（FPD/AML）的家族性血小板紊乱中常发生易位和变异。涉及RUNX1的许多易位缺乏激活域，并通过在转录激活中作为野生型Runx1的显性缺失抑制剂而导致白血病发生。
RUNX1, also known as AML1 or CBFA2, is a transcription factor that is a master regulator of hematopoietic differentiation. It interacts with a diverse subset of transcriptional complexes and can act as a transcriptional activator via recruitment of histone acetyltransferases or methyltransferases, or a repressor via recruitment of histone deacetylases or Polycomb-repressive complex 1 (PRC1). Due to its important role in hematopoiesis, conditional deletion of RUNX1 in mice results in an expansion of the hematopoietic stem and progenitor population, and defective T- and B-lymphocyte development. RUNX1 is highly regulated via alternative splicing, ubiquitination, phosphorylation, acetylation, and methylation, which has important regulatory consequences in cancer. RUNX1 is frequently translocated and altered in acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), acute lymphoid leukemia (ALL), and Familial platelet disorder with predisposition for acute myeloid leukemia (FPD/AML). Many translocations involving RUNX1 lack the activation domain, and have a leukemogenic effect by acting as a dominant negative inhibitor of wild-type RUNX1 in transcription activation.