Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect

Proc Natl Acad Sci U S A. 2007 Jul 3;104(27):11239-44. doi: 10.1073/pnas.0705055104. Epub 2007 Jun 26.

Abstract

Charcot-Marie-Tooth (CMT) diseases are the most common heritable peripheral neuropathy. At least 10 different mutant alleles of GARS (the gene for glycyl-tRNA synthetase) have been reported to cause a dominant axonal form of CMT (type 2D). A unifying connection between these mutations and CMT has been unclear. Here, mapping mutations onto the recently determined crystal structure of human GlyRS showed them within a band encompassing both sides of the dimer interface, with two CMT-causing mutations being at sites that are complementary partners of a "kissing" contact across the dimer interface. The CMT phenotype is shown here to not correlate with aminoacylation activity. However, most mutations affect dimer formation (to enhance or weaken). Seven CMT-causing variants and the wild-type protein were expressed in transfected neuroblastoma cells that sprout primitive neurites. Wild-type GlyRS distributed into the nascent neurites and was associated with normal neurite sprouting. In contrast, all mutant proteins were distribution-defective. Thus, CMT-causing mutations of GlyRS share a common defect in localization. This defect may be connected in some way to a change in the surfaces at the dimer interface.

Publication types

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

MeSH terms

  • Amino Acid Substitution / genetics
  • Animals
  • Axons / enzymology
  • Axons / pathology
  • Cell Line, Tumor
  • Charcot-Marie-Tooth Disease / enzymology*
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Dimerization
  • Glycine-tRNA Ligase / chemistry
  • Glycine-tRNA Ligase / genetics*
  • Glycine-tRNA Ligase / metabolism
  • Humans
  • Mice
  • Mutation*
  • Neurites / enzymology*
  • Neurites / metabolism
  • Neurites / pathology*
  • Surface Properties
  • Transfection
  • Tyrosine-tRNA Ligase / genetics

Substances

  • Tyrosine-tRNA Ligase
  • Glycine-tRNA Ligase