Neuroligins are cell-adhesion proteins that interact with neurexins at the synapse. This interaction may contribute to differentiation, plasticity and specificity of synapses. In humans, single mutations in neuroligin-encoding genes are implicated in autism spectrum disorder and/or mental retardation. Moreover, some copy number variations and point mutations in neurexin-encoding genes have been linked to neurodevelopmental disorders including autism. Neurexins are subject to extensive alternative splicing, highly regulated in mammals, with a great physiological importance. In addition, neuroligins and neurexins are subjected to proteolytic processes that regulate synaptic transmission modifying pre- and postsynaptic activities and may also regulate the remodelling of spines at specific synapses. Four neuroligin genes exist in mice and five in human, whilst in the nematode Caenorhabditis elegans, there is only one orthologous gene. In a similar manner, in mammals, there are three neurexin genes, each of them encoding two major isoforms named α and β, respectively. In contrast, there is one neurexin gene in C. elegans that also generates two isoforms like mammals. The complexity of the genetic organization of neurexins is due to extensive processing resulting in hundreds of isoforms. In this review, a wide comparison is made between the genes in the nematode and human with a view to better understanding the conservation of processing in these synaptic proteins in C. elegans, which may serve as a genetic model to decipher the synaptopathies underpinning neurodevelopmental disorders such as autism.

中文翻译：

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Neuroligin 和 neurexin 基因的保守和发散加工：从线虫 C. elegans 到人类。

Neuroligins 是细胞粘附蛋白，可在突触处与神经蛋白相互作用。这种相互作用可能有助于突触的分化、可塑性和特异性。在人类中，neuroligin 编码基因的单一突变与自闭症谱系障碍和/或智力低下有关。此外，神经蛋白编码基因中的一些拷贝数变异和点突变与包括自闭症在内的神经发育障碍有关。Neurexins 受到广泛的选择性剪接，在哺乳动物中受到高度调节，具有重要的生理意义。此外，neuroligins 和neurexins 经受蛋白水解过程，调节突触传递，改变突触前和突触后活动，也可能调节特定突触处的棘重塑。秀丽 隐杆线虫，只有一个直系同源基因。以类似的方式，在哺乳动物中，有三个神经蛋白基因，每个基因分别编码两个主要的同种型，分别命名为 α 和 β。相比之下，C 中有一个 neurexin 基因。线虫也产生两种同种型，如哺乳动物。neurexins 遗传组织的复杂性是由于产生数百种同种型的广泛加工。在这篇综述中，宽的比较在所述线虫与人类基因之间进行，以更好地理解，在这些突触蛋白处理的养护线虫，它可以用作遗传模型解密synaptopathies托换神经发育障碍比如自闭症。