The Campbell Family Institute for Breast Cancer Research, Ontario Cancer Institute, University Health Network, Toronto, Ontario M5G 2C1, Canada.
Nature. 2012 Aug 30;488(7413):656-9. doi: 10.1038/nature11323.
Mutations in the IDH1 and IDH2 genes encoding isocitrate dehydrogenases are frequently found in human glioblastomas and cytogenetically normal acute myeloid leukaemias (AML). These alterations are gain-of-function mutations in that they drive the synthesis of the ‘oncometabolite’ R-2-hydroxyglutarate (2HG). It remains unclear how IDH1 and IDH2 mutations modify myeloid cell development and promote leukaemogenesis. Here we report the characterization of conditional knock-in (KI) mice in which the most common IDH1 mutation, IDH1(R132H), is inserted into the endogenous murine Idh1 locus and is expressed in all haematopoietic cells (Vav-KI mice) or specifically in cells of the myeloid lineage (LysM-KI mice). These mutants show increased numbers of early haematopoietic progenitors and develop splenomegaly and anaemia with extramedullary haematopoiesis, suggesting a dysfunctional bone marrow niche. Furthermore, LysM-KI cells have hypermethylated histones and changes to DNA methylation similar to those observed in human IDH1- or IDH2-mutant AML. To our knowledge, our study is the first to describe the generation and characterization of conditional IDH1(R132H)-KI mice, and also the first report to demonstrate the induction of a leukaemic DNA methylation signature in a mouse model. Our report thus sheds light on the mechanistic links between IDH1 mutation and human AML.
IDH1 和 IDH2 基因编码异柠檬酸脱氢酶的突变在人类胶质母细胞瘤和细胞遗传学正常的急性髓系白血病(AML)中经常发现。这些改变是功能获得性突变,因为它们驱动了“致癌代谢物”R-2-羟戊酸(2HG)的合成。目前尚不清楚 IDH1 和 IDH2 突变如何改变髓样细胞的发育并促进白血病发生。在这里,我们报告了条件敲入(KI)小鼠的特征,其中最常见的 IDH1 突变 IDH1(R132H)插入内源性鼠 Idh1 基因座,并在所有造血细胞(Vav-KI 小鼠)或特异性地在髓系细胞(LysM-KI 小鼠)中表达。这些突变体显示早期造血祖细胞数量增加,并伴有脾肿大和贫血伴骨髓外造血,表明骨髓龛功能失调。此外,LysM-KI 细胞具有超甲基化的组蛋白和与在人类 IDH1 或 IDH2 突变 AML 中观察到的相似的 DNA 甲基化变化。据我们所知,我们的研究首次描述了条件性 IDH1(R132H)-KI 小鼠的产生和特征,也是首次报道在小鼠模型中诱导白血病 DNA 甲基化特征。因此,我们的报告阐明了 IDH1 突变与人类 AML 之间的机制联系。
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