Howard Hughes Medical Institute, University of Iowa Roy J. and Lucille A. Carver College of Medicine, 4283 Carver Biomedical Research Building, 285 Newton Road, Iowa City, IA 52242-1101, USA.
Science. 2010 Jan 1;327(5961):88-92. doi: 10.1126/science.1180512.
Alpha-dystroglycan (alpha-DG) is a cell-surface glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin-G domains and certain arenaviruses. Receptor binding is thought to be mediated by a posttranslational modification, and defective binding with laminin underlies a subclass of congenital muscular dystrophy. Using mass spectrometry- and nuclear magnetic resonance (NMR)-based structural analyses, we identified a phosphorylated O-mannosyl glycan on the mucin-like domain of recombinant alpha-DG, which was required for laminin binding. We demonstrated that patients with muscle-eye-brain disease and Fukuyama congenital muscular dystrophy, as well as mice with myodystrophy, commonly have defects in a postphosphoryl modification of this phosphorylated O-linked mannose, and that this modification is mediated by the like-acetylglucosaminyltransferase (LARGE) protein. These findings expand our understanding of the mechanisms that underlie congenital muscular dystrophy.
α- 连接蛋白聚糖(α-DG)是一种细胞表面糖蛋白,作为细胞外基质蛋白(包含层粘连蛋白 G 结构域)和某些沙粒病毒的受体。受体结合被认为是通过翻译后修饰介导的,与层粘连蛋白结合的缺陷是先天性肌肉营养不良的一个亚类的基础。使用基于质谱和核磁共振(NMR)的结构分析,我们鉴定了重组 α-DG 上的粘蛋白样结构域上的磷酸化 O-甘露糖聚糖,其对层粘连蛋白结合是必需的。我们证明,患有肌肉眼脑疾病和 Fukuyama 先天性肌肉营养不良的患者,以及肌营养不良的小鼠,通常在这种磷酸化 O-连接甘露糖的磷酸化后修饰中存在缺陷,并且这种修饰是由类乙酰氨基葡萄糖基转移酶(LARGE)蛋白介导的。这些发现扩展了我们对先天性肌肉营养不良基础机制的理解。