A point mutation of human nucleoside diphosphate kinase A found in aggressive neuroblastoma affects protein folding

J Biol Chem. 1997 Jun 20;272(25):15599-602. doi: 10.1074/jbc.272.25.15599.

Abstract

The point mutation serine 120 to glycine in the human nucleoside diphosphate kinase A has been identified in several aggressive neuroblastomas (Chang, C. L., Zhu, X. X., Thoraval, D. H., Ungar, D., Rawwas, J., Hora, N., Strahler, J. R., Hanash, S. M. & Radany, E. (1994) Nature 370, 335-336). We expressed in bacteria and purified wild-type and S120G mutant nucleoside diphosphate kinase A. The mutant enzyme had enzymatic and structural properties similar to the wild-type enzyme, whereas its stability to denaturation by heat and urea was markedly reduced. More importantly, upon renaturation of the urea-denatured mutant protein, a folding intermediate accumulated, having the characteristics of a molten globule. It had no tertiary structure, as shown by near UV circular dichroism, whereas the secondary structure was substantially recovered. The hydrophobic probe 8-anilino-1-naphthalene sulfonate bound to the intermediate species with an increase in fluorescence intensity and a blue shift. The hydrodynamic size was between that expected for a folded and an unfolded monomer. Finally, electrophoresis in a transverse urea gradient displayed no renaturation curve, and the protein showed the tendency to aggregate at the lowest urea concentrations. The existence of a molten globule folding intermediates resulting from an altered folding in the mutated protein might be related to the aggressiveness of neuroblastomas.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, Neoplasm / chemistry
  • Antigens, Neoplasm / genetics*
  • Chromatography, Gel
  • Circular Dichroism
  • Glycine
  • Humans
  • Kinetics
  • Molecular Weight
  • Monomeric GTP-Binding Proteins*
  • NM23 Nucleoside Diphosphate Kinases
  • Neuroblastoma / enzymology*
  • Neuroblastoma / genetics
  • Nucleoside-Diphosphate Kinase / chemistry
  • Nucleoside-Diphosphate Kinase / genetics*
  • Point Mutation*
  • Protein Folding*
  • Serine
  • Transcription Factors / chemistry
  • Transcription Factors / genetics*

Substances

  • Antigens, Neoplasm
  • NM23 Nucleoside Diphosphate Kinases
  • Transcription Factors
  • Serine
  • Nucleoside-Diphosphate Kinase
  • Monomeric GTP-Binding Proteins
  • Glycine