BRCA1 RING domain cancer-predisposing mutations. Structural consequences and effects on protein-protein interactions

J Biol Chem. 2001 Nov 2;276(44):41399-406. doi: 10.1074/jbc.M106551200. Epub 2001 Aug 28.

Abstract

Cancer-predisposing missense mutations in the RING domain of BRCA1 primarily target Zn(2+)-liganding residues. Here we report on the structural consequences of such mutations introduced into the second Zn(2+) site (Site II) of the BRCA1 RING domain and their effect on the interaction with the BARD1 RING domain. Each of the BRCA1 Site II mutants still interact and form a stable heterodimer with BARD1. Limited proteolysis of BRCA1/BARD1 complexes, monitored by matrix-assisted laser desorption ionization time-of-flight spectrometry, show that the mutations cause a local structural perturbation that is primarily confined to the second Zn(2+) binding loop of the BRCA1 subunit. These findings are consistent with the structure of the BRCA1/BARD1 heterodimer, which shows this region is well removed from the helices required for dimerization with BARD1. Instead, the mutations alter a region of BRCA1 that appears to be required for interaction with ubiquitin-conjugating enzymes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • BRCA1 Protein / chemistry
  • BRCA1 Protein / genetics*
  • BRCA1 Protein / metabolism
  • Dimerization
  • Genetic Predisposition to Disease*
  • Humans
  • Hydrolysis
  • Models, Molecular
  • Mutation, Missense*
  • Protein Binding
  • Protein Conformation
  • Spectrometry, Mass, Electrospray Ionization
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
  • Zinc / metabolism

Substances

  • BRCA1 Protein
  • Zinc