Di Cunto F, Imarisio S, Hirsch E, Broccoli V, Bulfone A, Migheli A, Atzori C, Turco E, Triolo R, Dotto G P, Silengo L, Altruda F
Department of Genetics, Biology and Biochemistry, University of Torino, Italy.
Neuron. 2000 Oct;28(1):115-27. doi: 10.1016/s0896-6273(00)00090-8.
Citron-kinase (Citron-K) has been proposed by in vitro studies as a crucial effector of Rho in regulation of cytokinesis. To further investigate in vivo its biologic functions, we have inactivated Citron-K gene in mice by homologous recombination. Citron-K-/- mice grow at slower rates, are severely ataxic, and die before adulthood as a consequence of fatal seizures. Their brains display defective neurogenesis, with depletion of specific neuronal populations. These abnormalities arise during development of the central nervous system due to altered cytokinesis and massive apoptosis. Our results indicate that Citron-K is essential for cytokinesis in vivo but only in specific neuronal precursors. Moreover, they suggest a novel molecular mechanism for a subset of human malformative syndromes of the CNS.
体外研究表明,西特龙激酶(Citron-K)是Rho在调节胞质分裂过程中的关键效应器。为了进一步研究其在体内的生物学功能,我们通过同源重组使小鼠中的Citron-K基因失活。Citron-K基因敲除小鼠生长速度较慢,严重共济失调,并因致命性癫痫发作在成年前死亡。它们的大脑显示出神经发生缺陷,特定神经元群体减少。这些异常是由于胞质分裂改变和大量细胞凋亡,在中枢神经系统发育过程中出现的。我们的结果表明,Citron-K在体内对胞质分裂至关重要,但仅在特定的神经元前体细胞中如此。此外,这些结果提示了中枢神经系统人类畸形综合征子集的一种新分子机制。