Deuel Thomas A S, Liu Judy S, Corbo Joseph C, Yoo Seung-Yun, Rorke-Adams Lucy B, Walsh Christopher A
Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA.
Neuron. 2006 Jan 5;49(1):41-53. doi: 10.1016/j.neuron.2005.10.038.
Although mutations in the human doublecortin gene (DCX) cause profound defects in cortical neuronal migration, a genetic deletion of Dcx in mice produces a milder defect. A second locus, doublecortin-like kinase (Dclk), encodes a protein with similar "doublecortin domains" and microtubule stabilization properties that may compensate for Dcx. Here, we generate a mouse with a Dclk mutation that causes no obvious migrational abnormalities but show that mice mutant for both Dcx and Dclk demonstrate perinatal lethality, disorganized neocortical layering, and profound hippocampal cytoarchitectural disorganization. Surprisingly, Dcx(-/y);Dclk(-/-) mutants have widespread axonal defects, affecting the corpus callosum, anterior commissure, subcortical fiber tracts, and internal capsule. Dcx/Dclk-deficient dissociated neurons show abnormal axon outgrowth and dendritic structure, with defects in axonal transport of synaptic vesicle proteins. Dcx and Dclk may directly or indirectly regulate microtubule-based vesicle transport, a process critical to both neuronal migration and axon outgrowth.
尽管人类双皮质素基因(DCX)的突变会导致皮质神经元迁移出现严重缺陷,但小鼠中Dcx的基因缺失产生的缺陷则较为轻微。另一个基因座,双皮质素样激酶(Dclk),编码一种具有相似“双皮质素结构域”和微管稳定特性的蛋白质,可能会补偿Dcx的功能。在此,我们培育出了一只带有Dclk突变但未出现明显迁移异常的小鼠,但研究表明,同时缺失Dcx和Dclk的小鼠表现出围产期致死率、新皮质分层紊乱以及海马细胞结构严重紊乱。令人惊讶的是,Dcx(- / y); Dclk(-/-)突变体存在广泛的轴突缺陷,影响胼胝体、前连合、皮质下纤维束和内囊。缺乏Dcx和Dclk的解离神经元显示出异常的轴突生长和树突结构,突触小泡蛋白的轴突运输存在缺陷。Dcx和Dclk可能直接或间接调节基于微管的小泡运输,这一过程对神经元迁移和轴突生长都至关重要。