Laboratory of Genetics and Neuroscience Training Program, University of Wisconsin, Madison, Wisconsin 53706-1580.
Genetics. 2013 Nov;195(3):915-26. doi: 10.1534/genetics.113.156562. Epub 2013 Aug 26.
Although evolutionary changes must take place in neural connectivity and synaptic architecture as nervous systems become more complex, we lack understanding of the general principles and specific mechanisms by which these changes occur. Previously, we found that morphology of the larval neuromuscular junction (NMJ) varies extensively among different species of Drosophila but is relatively conserved within a species. To identify specific genes as candidates that might underlie phenotypic differences in NMJ morphology among Drosophila species, we performed a genetic analysis on one of two phenotypic variants we found among 20 natural isolates of Drosophila melanogaster. We discovered genetic polymorphisms for both positive and negative regulators of NMJ growth segregating within the variant line. Focusing on one subline, that displayed NMJ overgrowth, we mapped the phenotype to Mob2 [Monopolar spindle (Mps) one binding protein 2)], a gene encoding a Nuclear Dbf2 (Dumbbell formation 2)-Related (NDR) kinase activator. We confirmed this identification by transformation rescue experiments and showed that presynaptic expression of Mob2 is necessary and sufficient to regulate NMJ growth. Mob2 interacts in a dominant, dose-dependent manner with tricornered but not with warts, to cause NMJ overgrowth, suggesting that Mob2 specifically functions in combination with the former NDR kinase to regulate NMJ development. These results demonstrate the feasibility and utility of identifying genetic variants affecting NMJ morphology in natural populations of Drosophila. These variants can lead to discovery of new genes and molecular mechanisms that regulate NMJ development while also providing new information that can advance our understanding of mechanisms that underlie nervous system evolution.
尽管神经系统变得更加复杂时,神经连接和突触结构必须发生进化变化,但我们缺乏了解这些变化发生的一般原则和具体机制。此前,我们发现幼虫神经肌肉接头 (NMJ) 的形态在不同的果蝇物种之间广泛变化,但在一个物种内相对保守。为了确定可能导致果蝇物种之间 NMJ 形态表型差异的特定基因作为候选基因,我们对我们在 20 个自然分离的黑腹果蝇中发现的两种表型变体之一进行了遗传分析。我们发现了正调节因子和负调节因子的遗传多态性 NMJ 生长在变体线内分离。我们专注于一个亚系,该亚系表现出 NMJ 过度生长,我们将表型映射到 Mob2 [单极纺锤体 (Mps) 一个结合蛋白 2)],该基因编码核 Dbf2 (哑铃形成 2)相关 (NDR) 激酶激活剂。我们通过转化拯救实验证实了这一鉴定,并表明 Mob2 的突触前表达是调节 NMJ 生长所必需和充分的。Mob2 以显性、剂量依赖性的方式与三尖而不是 wart 相互作用,导致 NMJ 过度生长,表明 Mob2 特异性地与前 NDR 激酶结合以调节 NMJ 发育。这些结果证明了在黑腹果蝇的自然种群中识别影响 NMJ 形态的遗传变体的可行性和实用性。这些变体可以发现新的基因和分子机制来调节 NMJ 发育,同时提供新的信息,从而推进我们对神经系统进化基础机制的理解。