Bonadies Nicolas, Göttgens Berthold, Calero-Nieto Fernando J
Department of Haematology, Wellcome Trust and MRC Cambridge Stem Cell Institute, Cambridge Institute for Medical Research, Cambridge University, Cambridge, United Kingdom.
PLoS One. 2015 Jul 10;10(7):e0131577. doi: 10.1371/journal.pone.0131577. eCollection 2015.
Lim domain only 2 (LMO2) is a transcriptional co-factor required for angiogenesis and the specification of haematopoietic cells during development. LMO2 is widely expressed within haematopoiesis with the exception of T-cells. Failure to downregulate LMO2 during T-cell maturation leads to leukaemia, thus underlining the critical nature of context-dependent regulation of LMO2 expression. We previously identified a distal regulatory element of LMO2 (element -25) that cooperates with the proximal promoter in directing haematopoietic expression. Here we dissected the functional activity of element -25 and showed it to consist of two modules that conferred independent and cell-type specific activities: a 3' myeloid enhancer and a 5' T-cell repressor. The myeloid enhancer was bound by GATA2 in progenitors and its activity depended on a highly conserved GATA motif, whereas the T-cell repressor moiety of element -25 was bound by the Core Binding Factor in T-cells and its repressive activity depended on a highly conserved RUNT motif. Since the myeloid enhancer and nearby downstream region is recurrently involved in oncogenic translocations, our data suggest that the -25 enhancer region provides an open chromatin environment prone to translocations, which in turn cause aberrant LMO2 expression in T-cells due to the removal of the adjacent T-cell repressor.
仅含LIM结构域2(LMO2)是血管生成以及发育过程中造血细胞特化所必需的转录辅因子。LMO2在造血过程中广泛表达,但T细胞除外。在T细胞成熟过程中未能下调LMO2会导致白血病,这突出了LMO2表达的上下文依赖性调节的关键性质。我们之前鉴定出LMO2的一个远端调控元件(元件-25),它与近端启动子协同指导造血表达。在此我们剖析了元件-25的功能活性,发现它由两个赋予独立和细胞类型特异性活性的模块组成:一个3'髓系增强子和一个5'T细胞抑制子。髓系增强子在祖细胞中被GATA2结合,其活性依赖于一个高度保守的GATA基序,而元件-25的T细胞抑制子部分在T细胞中被核心结合因子结合,其抑制活性依赖于一个高度保守的RUNT基序。由于髓系增强子和附近的下游区域经常参与致癌性易位,我们的数据表明-25增强子区域提供了一个易于发生易位的开放染色质环境,这反过来由于相邻T细胞抑制子的缺失而导致T细胞中LMO2异常表达。