Computational analysis of prolyl hydroxylase domain-containing protein 2 (PHD2) mutations promoting polycythemia insurgence in humans

Sci Rep. 2016 Jan 12:6:18716. doi: 10.1038/srep18716.

Abstract

Idiopathic erythrocytosis is a rare disease characterized by an increase in red blood cell mass due to mutations in proteins of the oxygen-sensing pathway, such as prolyl hydroxylase 2 (PHD2). Here, we present a bioinformatics investigation of the pathological effect of twelve PHD2 mutations related to polycythemia insurgence. We show that few mutations impair the PHD2 catalytic site, while most localize to non-enzymatic regions. We also found that most mutations do not overlap the substrate recognition site, suggesting a novel PHD2 binding interface. After a structural analysis of both binding partners, we suggest that this novel interface is responsible for PHD2 interaction with the LIMD1 tumor suppressor.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Motifs
  • Amino Acid Sequence
  • Conserved Sequence
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Hypoxia-Inducible Factor-Proline Dioxygenases / chemistry
  • Hypoxia-Inducible Factor-Proline Dioxygenases / genetics*
  • Hypoxia-Inducible Factor-Proline Dioxygenases / metabolism
  • Models, Molecular
  • Mutation*
  • Mutation, Missense
  • Polycythemia / genetics*
  • Polycythemia / metabolism
  • Position-Specific Scoring Matrices
  • Protein Binding
  • Protein Conformation
  • Protein Interaction Mapping
  • Protein Interaction Maps
  • Protein Stability
  • Sequence Analysis, DNA

Substances

  • EGLN1 protein, human
  • Hypoxia-Inducible Factor-Proline Dioxygenases