Cole Christopher B, Russler-Germain David A, Ketkar Shamika, Verdoni Angela M, Smith Amanda M, Bangert Celia V, Helton Nichole M, Guo Mindy, Klco Jeffery M, O'Laughlin Shelly, Fronick Catrina, Fulton Robert, Chang Gue Su, Petti Allegra A, Miller Christopher A, Ley Timothy J
Department of Medicine, Division of Oncology, Section of Stem Cell Biology, Washington University School of Medicine, St. Louis, Missouri, USA.
Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
J Clin Invest. 2017 Oct 2;127(10):3657-3674. doi: 10.1172/JCI93041. Epub 2017 Sep 5.
The gene that encodes de novo DNA methyltransferase 3A (DNMT3A) is frequently mutated in acute myeloid leukemia genomes. Point mutations at position R882 have been shown to cause a dominant negative loss of DNMT3A methylation activity, but 15% of DNMT3A mutations are predicted to produce truncated proteins that could either have dominant negative activities or cause loss of function and haploinsufficiency. Here, we demonstrate that 3 of these mutants produce truncated, inactive proteins that do not dimerize with WT DNMT3A, strongly supporting the haploinsufficiency hypothesis. We therefore evaluated hematopoiesis in mice heterozygous for a constitutive null Dnmt3a mutation. With no other manipulations, Dnmt3a+/- mice developed myeloid skewing over time, and their hematopoietic stem/progenitor cells exhibited a long-term competitive transplantation advantage. Dnmt3a+/- mice also spontaneously developed transplantable myeloid malignancies after a long latent period, and 3 of 12 tumors tested had cooperating mutations in the Ras/MAPK pathway. The residual Dnmt3a allele was neither mutated nor downregulated in these tumors. The bone marrow cells of Dnmt3a+/- mice had a subtle but statistically significant DNA hypomethylation phenotype that was not associated with gene dysregulation. These data demonstrate that haploinsufficiency for Dnmt3a alters hematopoiesis and predisposes mice (and probably humans) to myeloid malignancies by a mechanism that is not yet clear.
编码从头DNA甲基转移酶3A(DNMT3A)的基因在急性髓系白血病基因组中经常发生突变。R882位点的点突变已被证明会导致DNMT3A甲基化活性的显性负性丧失,但预计15%的DNMT3A突变会产生截短蛋白,这些蛋白可能具有显性负性活性,或导致功能丧失和单倍体不足。在这里,我们证明其中3种突变体产生截短的无活性蛋白,这些蛋白不会与野生型DNMT3A二聚化,有力地支持了单倍体不足假说。因此,我们评估了组成型无效Dnmt3a突变杂合小鼠的造血情况。在没有其他操作的情况下,Dnmt3a+/-小鼠随着时间的推移出现了髓系偏斜,并且它们的造血干/祖细胞表现出长期竞争移植优势。Dnmt3a+/-小鼠在经过很长的潜伏期后也自发地发展出可移植的髓系恶性肿瘤,在检测的12个肿瘤中有3个在Ras/MAPK途径中有协同突变。在这些肿瘤中,残留的Dnmt3a等位基因既没有发生突变也没有下调。Dnmt3a+/-小鼠的骨髓细胞具有轻微但具有统计学意义的DNA低甲基化表型,这与基因失调无关。这些数据表明,Dnmt3a的单倍体不足会改变造血,并通过一种尚不清楚的机制使小鼠(可能还有人类)易患髓系恶性肿瘤。