Schwarz T L
Department of Molecular and Cellular Physiology, Beckman Center, Stanford University, California 94305-5426.
Curr Opin Neurobiol. 1994 Oct;4(5):633-9. doi: 10.1016/0959-4388(94)90003-5.
The recent application of genetics to the study of synaptic mechanisms has examined the in vivo significance of individual synaptic proteins and has tested hypotheses that were derived from biochemical observations on these proteins. In the case of synapsin I and Rab3A, the phenotypes of mice lacking these proteins was startlingly mild; only subtle alterations in transmission were observed. Whereas in synaptotagmin mutants of flies and nematodes, transmission was severely curtailed, though not abolished. A detailed analysis of the phenotype has led to a hypothesis that this protein stabilizes the docking of vesicles at release sites. The analysis of additional synaptic proteins, Unc-18/Rop and the cysteine string protein, has indicated that these are important players in synaptic mechanisms and may soon illuminate their function at the synapse.
遗传学最近在突触机制研究中的应用，已对单个突触蛋白的体内意义进行了考察，并对基于这些蛋白的生化观察结果得出的假说进行了验证。就突触素I和Rab3A而言，缺乏这些蛋白的小鼠的表型惊人地轻微；仅观察到传递过程中有细微改变。而在果蝇和线虫的突触结合蛋白突变体中，传递虽未完全消除，但受到严重抑制。对该表型的详细分析得出了一个假说，即这种蛋白可稳定囊泡在释放位点的对接。对其他突触蛋白Unc-18/Rop和半胱氨酸串珠蛋白的分析表明，它们是突触机制中的重要参与者，可能很快就会阐明它们在突触处的功能。
