GATA2
小结
GATA2编码蛋白是一种转录因子，参与红细胞和血小板发育，是造血分化的主要调节因子。GATA2可以激活许多参与造血的基因表达，包括干细胞维持和细胞特殊化的基因。此外，GATA2还调节血管生成和淋巴管生成。GATA2调节GATA1的激活，这一过程称为“GATA开关”，然后最终导致GATA2的抑制。GATA2的胚系突变Emberger和MonoMAC综合征相关，易患白血病。GATA2的体细胞突变发现于白血病，并常与CEBPA突变共发生。GATA2-EV1易位在倒置3白血病的患者中被检测到。在实体瘤中，GATA2表达与调节Ras信号传导和转移有关。
GATA2 is a transcription factor that functions as a master regulator of hematopoietic differentiation. GATA2 activates the expression of many important genes involved in hematopoiesis, including those involved in stem cell maintenance and cell specification. In addition, GATA2 has been implicated in the regulation of angiogenesis and lymphangiogenesis. Appropriate expression of GATA2 is required in hematopoietic stem and progenitor cells to initiate hematopoietic lineage specification. Importantly, GATA2 regulates the activation of GATA1, a process termed the “GATA switch”, which then ultimately results in the repression of GATA2. Loss of GATA2 expression in murine models results in the suppression of definitive hematopoiesis, highlighting the importance of GATA2 in hematopoietic regulation . Germline GATA2 mutations are associated with familial myelodysplastic syndrome, acute myeloid leukemia (AML)and Emberger syndrome, a heritable lymphedema disorder associated with a predisposition to AML. Inherited GATA2 mutations are also found in patients with MonoMAC syndrome, an immunodeficiency disorder leading to vulnerability to select infectious agents. Somatic GATA2 mutations are found in leukemias and myelodysplastic syndromes and often co-occur with CEBPA mutations. GATA2-EV1 translocations have been identified in patients with inversion 3 leukemias . In solid tumors, GATA2 expression has been linked with regulation of Ras signaling and metastasis.