Le Doan T, Kong Namie, Zhu Yuan, Lauchle Jennifer O, Aiyigari Abigail, Braun Benjamin S, Wang Endi, Kogan Scott C, Le Beau Michelle M, Parada Luis, Shannon Kevin M
Department of Pediatrics, University of California, San Francisco, 513 Parnassus Ave, HSE 302, San Francisco, CA 94143, USA.
Blood. 2004 Jun 1;103(11):4243-50. doi: 10.1182/blood-2003-08-2650. Epub 2004 Feb 24.
The NF1 tumor suppressor gene encodes a guanosine triphosphotase (GTPase)-activating protein that negatively regulates Ras signaling and is inactivated in a subset of juvenile myelomonocytic leukemias (JMMLs). Adoptive transfer of fetal liver cells from Nf1 mutant mice models JMML; however, this system has important limitations as a platform for performing biologic and preclinical studies. We have exploited the interferon-inducible Mx1-Cre transgene to ablate a conditional mutant Nf1 allele in hematopoietic cells. Somatic inactivation of Nf1 induces a myeloproliferative disorder with 100% penetrance that is associated with a sub-acute clinical course, tissue infiltration by myeloid cells, hypersensitivity to granulocyte-macrophage colony stimulating factor, hyperproliferation, and resistance to apoptosis. These Mx1-Cre, Nf1(flox/flox) mice establish a tractable experimental model for testing therapeutics and for identifying mutations that cooperate with hyperactive Ras in myeloid leukemogenesis.
神经纤维瘤病1型(NF1)肿瘤抑制基因编码一种鸟苷三磷酸酶(GTPase)激活蛋白,该蛋白对Ras信号传导起负调节作用,并且在一部分青少年型粒单核细胞白血病(JMML)中失活。将Nf1突变小鼠的胎肝细胞进行过继性移植可模拟JMML;然而,作为一个进行生物学和临床前研究的平台,该系统存在重要局限性。我们利用干扰素诱导型Mx1-Cre转基因在造血细胞中敲除条件性突变的Nf1等位基因。Nf1的体细胞失活会诱发一种具有100%外显率的骨髓增殖性疾病,该疾病与亚急性临床病程、髓样细胞的组织浸润、对粒细胞-巨噬细胞集落刺激因子的超敏反应、细胞过度增殖以及抗凋亡作用相关。这些Mx1-Cre、Nf1(flox/flox)小鼠建立了一个易于处理的实验模型,用于测试治疗方法以及识别在髓系白血病发生过程中与过度活跃的Ras协同作用的突变。