Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors

PLoS Comput Biol. 2019 Apr 3;15(4):e1006478. doi: 10.1371/journal.pcbi.1006478. eCollection 2019 Apr.

Abstract

Familiar cancers represent a privileged point of view for studying the complex cellular events inducing tumor transformation. Von Hippel-Lindau syndrome, a familiar predisposition to develop cancer is a clear example. Here, we present our efforts to decipher the role of von Hippel-Lindau tumor suppressor protein (pVHL) in cancer insurgence. We collected high quality information about both pVHL mutations and interactors to investigate the association between patient phenotypes, mutated protein surface and impaired interactions. Our data suggest that different phenotypes correlate with localized perturbations of the pVHL structure, with specific cell functions associated to different protein surfaces. We propose five different pVHL interfaces to be selectively involved in modulating proteins regulating gene expression, protein homeostasis as well as to address extracellular matrix (ECM) and ciliogenesis associated functions. These data were used to drive molecular docking of pVHL with its interactors and guide Petri net simulations of the most promising alterations. We predict that disruption of pVHL association with certain interactors can trigger tumor transformation, inducing metabolism imbalance and ECM remodeling. Collectively taken, our findings provide novel insights into VHL-associated tumorigenesis. This highly integrated in silico approach may help elucidate novel treatment paradigms for VHL disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinoma, Renal Cell / genetics
  • Computational Biology
  • Genes, Tumor Suppressor
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Kidney Neoplasms / genetics
  • Molecular Docking Simulation
  • Mutation*
  • Polycythemia / genetics
  • Protein Interaction Domains and Motifs
  • Protein Interaction Maps
  • Protein Processing, Post-Translational
  • Von Hippel-Lindau Tumor Suppressor Protein / chemistry
  • Von Hippel-Lindau Tumor Suppressor Protein / genetics*
  • Von Hippel-Lindau Tumor Suppressor Protein / metabolism
  • von Hippel-Lindau Disease / genetics
  • von Hippel-Lindau Disease / metabolism

Substances

  • Von Hippel-Lindau Tumor Suppressor Protein
  • VHL protein, human

Grants and funding

This work was supported by Associazione Italiana per la Ricerca sul Cancro (AIRC) grants MFAG12740 and IG17753 to SCET. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.