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RUNX1 的 C 末端突变减弱了造血干细胞中的 DNA 损伤修复反应。

C-terminal mutation of RUNX1 attenuates the DNA-damage repair response in hematopoietic stem cells.

机构信息

Department of Hematology and Oncology, Osaka University Graduate School of Medicine, Suita, Japan.

出版信息

Leukemia. 2012 Feb;26(2):303-11. doi: 10.1038/leu.2011.202. Epub 2011 Aug 12.

Abstract

Loss-of-function mutations of RUNX1 have been found in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDSs). Although several reports have suggested roles for RUNX1 as a tumor suppressor, its precise function remains unknown. Because gene alterations of RUNX1 by themselves do not lead to the development of leukemia in mouse models, additional mutation(s) would be required for leukemia development. Here, we report that the C-terminal deletion mutant of RUNX1, RUNX1dC, attenuates DNA-damage repair responses in hematopoietic stem/progenitor cells. γH2AX foci, which indicate the presence of DNA double-strand breaks, were more abundantly accumulated in RUNX1dC-transduced lineage(-)Sca1(+)c-kit(+) (LSK) cells than in mock-transduced LSK cells both in a steady state and after γ-ray treatment. Expression profiling by real-time -PCR array revealed RUNX1dC represses the expression of Gadd45a, a sensor of DNA stress. Furthermore, bone marrow cells from MDS/AML patients harboring the RUNX1-C-terminal mutation showed significantly lower levels of GADD45A expression compared with those from MDS/AML patients with wild-type RUNX1. As for this mechanism, we found that RUNX1 directly regulates the transcription of GADD45A and that RUNX1 and p53 synergistically activate the GADD45A transcription. Together, these results suggest Gadd45a dysfunction due to RUNX1 mutations can cause additional mutation(s) required for multi-step leukemogenesis.

摘要

RUNX1 的功能丧失性突变已在急性髓性白血病 (AML) 和骨髓增生异常综合征 (MDS) 中被发现。尽管有几项报告表明 RUNX1 作为一种肿瘤抑制因子发挥作用,但它的确切功能仍不清楚。由于 RUNX1 的基因改变本身并不会导致在小鼠模型中发生白血病,因此还需要其他突变才能导致白血病的发生。在这里,我们报告 RUNX1 的 C 端缺失突变体 RUNX1dC 会减弱造血干细胞/祖细胞中的 DNA 损伤修复反应。γH2AX 焦点,表明存在 DNA 双链断裂,在γ射线处理前后,RUNX1dC 转导的谱系 (-)Sca1(+)c-kit(+) (LSK) 细胞中比 mock 转导的 LSK 细胞中更大量地积累。实时 -PCR 阵列表达谱分析显示,RUNX1dC 抑制 DNA 应激传感器 Gadd45a 的表达。此外,携带 RUNX1-C 端突变的 MDS/AML 患者的骨髓细胞与携带野生型 RUNX1 的 MDS/AML 患者相比,GADD45A 的表达水平显著降低。至于这种机制,我们发现 RUNX1 直接调节 GADD45A 的转录,并且 RUNX1 和 p53 协同激活 GADD45A 的转录。总之,这些结果表明,由于 RUNX1 突变导致 Gadd45a 功能障碍,可能导致多步骤白血病发生所需的其他突变。

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