∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis

Nature. 2015 Dec 24;528(7583):510-6. doi: 10.1038/nature15729. Epub 2015 Nov 30.

Abstract

Deletion of phenylalanine 508 of the cystic fibrosis transmembrane conductance regulator (∆F508 CFTR) is the major cause of cystic fibrosis, one of the most common inherited childhood diseases. The mutated CFTR anion channel is not fully glycosylated and shows minimal activity in bronchial epithelial cells of patients with cystic fibrosis. Low temperature or inhibition of histone deacetylases can partly rescue ∆F508 CFTR cellular processing defects and function. A favourable change of ∆F508 CFTR protein-protein interactions was proposed as a mechanism of rescue; however, CFTR interactome dynamics during temperature shift and inhibition of histone deacetylases are unknown. Here we report the first comprehensive analysis of the CFTR and ∆F508 CFTR interactome and its dynamics during temperature shift and inhibition of histone deacetylases. By using a novel deep proteomic analysis method, we identify 638 individual high-confidence CFTR interactors and discover a ∆F508 deletion-specific interactome, which is extensively remodelled upon rescue. Detailed analysis of the interactome remodelling identifies key novel interactors, whose loss promote ∆F508 CFTR channel function in primary cystic fibrosis epithelia or which are critical for CFTR biogenesis. Our results demonstrate that global remodelling of ∆F508 CFTR interactions is crucial for rescue, and provide comprehensive insight into the molecular disease mechanisms of cystic fibrosis caused by deletion of F508.

Publication types

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

MeSH terms

  • Bronchi / cytology
  • Cells, Cultured
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / metabolism*
  • Cystic Fibrosis / therapy*
  • Cystic Fibrosis Transmembrane Conductance Regulator / biosynthesis
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism*
  • Epithelial Cells / chemistry
  • Epithelial Cells / metabolism
  • Gene Knockdown Techniques
  • Glycosylation
  • Histone Deacetylase Inhibitors / pharmacology
  • Histone Deacetylases / deficiency
  • Histone Deacetylases / metabolism
  • Humans
  • Mutant Proteins / genetics
  • Mutant Proteins / metabolism
  • Protein Folding
  • Protein Interaction Mapping
  • Protein Interaction Maps*
  • Proteomics
  • RNA Interference
  • RNAi Therapeutics
  • Sequence Deletion / genetics*
  • Temperature

Substances

  • CFTR protein, human
  • Histone Deacetylase Inhibitors
  • Mutant Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Histone Deacetylases