Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy

FEBS Lett. 2007 Jun 26;581(16):2959-64. doi: 10.1016/j.febslet.2007.05.046. Epub 2007 May 29.

Abstract

Dominant mutations in the ubiquitous enzyme glycyl-tRNA synthetase (GlyRS), including S581L, lead to motor nerve degeneration. We have determined crystal structures of wildtype and S581L-mutant human GlyRS. The S581L mutation is approximately 50A from the active site, and yet gives reduced aminoacylation activity. The overall structures of wildtype and S581L-GlyRS, including the active site, are very similar. However, residues 567-575 of the anticodon-binding domain shift position and in turn could indirectly affect glycine binding via the tRNA or alternatively inhibit conformational changes. Reduced enzyme activity may underlie neuronal degeneration, although a dominant-negative effect is more likely in this autosomal dominant disorder.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Binding Sites
  • Crystallography, X-Ray
  • Dimerization
  • Distal Myopathies / enzymology*
  • Distal Myopathies / genetics
  • Glycine-tRNA Ligase / chemistry*
  • Glycine-tRNA Ligase / genetics
  • Glycine-tRNA Ligase / metabolism
  • Humans
  • Leucine / chemistry
  • Models, Molecular
  • Muscular Atrophy, Spinal / enzymology*
  • Muscular Atrophy, Spinal / genetics
  • Mutant Proteins / chemistry
  • Mutant Proteins / metabolism
  • Mutation, Missense
  • RNA-Binding Proteins / chemistry
  • RNA-Binding Proteins / metabolism
  • Serine / chemistry
  • Transfer RNA Aminoacylation / genetics

Substances

  • Mutant Proteins
  • RNA-Binding Proteins
  • Serine
  • Glycine-tRNA Ligase
  • Leucine