O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding

Science. 2010 Jan 1;327(5961):88-92. doi: 10.1126/science.1180512.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Carbohydrate Conformation
  • Cell Line
  • Dystroglycans / chemistry
  • Dystroglycans / metabolism*
  • Glycosylation
  • Humans
  • Laminin / metabolism*
  • Magnetic Resonance Spectroscopy
  • Mannose / metabolism*
  • Mass Spectrometry
  • Membrane Proteins / metabolism
  • Mice
  • Mice, Inbred C57BL
  • Muscle, Skeletal / metabolism
  • Muscular Dystrophies / metabolism
  • Muscular Dystrophy, Animal / metabolism
  • N-Acetylglucosaminyltransferases / genetics
  • N-Acetylglucosaminyltransferases / metabolism
  • Phosphorylation
  • Protein Binding
  • Recombinant Proteins / chemistry
  • Recombinant Proteins / metabolism

Substances

  • DAG1 protein, human
  • FKTN protein, human
  • Laminin
  • Membrane Proteins
  • Recombinant Proteins
  • Dystroglycans
  • LARGE1 protein, human
  • Large1 protein, mouse
  • N-Acetylglucosaminyltransferases
  • Mannose