Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, The University of Georgia , Athens, Georgia 30602, United States.
Biochemistry. 2014 May 20;53(19):3066-78. doi: 10.1021/bi500153y. Epub 2014 May 7.
The mammalian O-mannosylation pathway for protein post-translational modification is intricately involved in modulating cell-matrix interactions in the musculature and nervous system. Defects in enzymes of this biosynthetic pathway are causative for multiple forms of congenital muscular dystophy. The application of advanced genetic and biochemical technologies has resulted in remarkable progress in this field over the past few years, culminating with the publication of three landmark papers in 2013 alone. In this review, we will highlight recent progress focusing on the dramatic expansion of the set of genes known to be involved in O-mannosylation and disease processes, the concurrent acceleration of the rate of O-mannosylation pathway protein functional assignments, the tremendous increase in the number of proteins now known to be modified by O-mannosylation, and the recent progress in protein O-mannose glycan quantification and site assignment. Also, we attempt to highlight key outstanding questions raised by this abundance of new information.
哺乳动物的 O-连接糖基化途径是蛋白质翻译后修饰的重要方式，它在肌肉和神经系统中调节细胞-基质相互作用方面发挥着复杂的作用。该生物合成途径中酶的缺陷是多种先天性肌肉营养不良的致病原因。在过去几年中，先进的遗传和生化技术的应用使得该领域取得了显著进展，仅在 2013 年就发表了三篇具有里程碑意义的论文。在这篇综述中，我们将重点介绍最近的进展，包括参与 O-连接糖基化和疾病过程的基因数量的显著增加，O-连接糖基化途径蛋白功能分配的速度同时加快，以及现在已知被 O-连接糖基化修饰的蛋白质数量的大量增加，以及蛋白质 O-甘露糖糖基化定量和位点分配的最新进展。此外，我们试图突出由这些大量新信息所提出的关键问题。
