BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function

Cell. 2001 Apr 6;105(1):149-60. doi: 10.1016/s0092-8674(01)00304-x.

Abstract

BRCA1 interacts in vivo with a novel protein, BACH1, a member of the DEAH helicase family. BACH1 binds directly to the BRCT repeats of BRCA1. A BACH1 derivative, bearing a mutation in a residue that was essential for catalytic function in other helicases, interfered with normal double-strand break repair in a manner that was dependent on its BRCA1 binding function. Thus, BACH1/BRCA1 complex formation contributes to a key BRCA1 activity. In addition, germline BACH1 mutations affecting the helicase domain were detected in two early-onset breast cancer patients and not in 200 matched controls. Thus, it is conceivable that, like BRCA1, BACH1 is a target of germline cancer-inducing mutations.

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Motifs / genetics
  • BRCA1 Protein / metabolism*
  • Binding Sites / physiology
  • Boston / epidemiology
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Cell Line
  • Chromosomes, Human, Pair 17 / genetics
  • DNA Helicases / genetics
  • DNA Helicases / metabolism*
  • DNA Repair / genetics*
  • DNA-Binding Proteins*
  • Fanconi Anemia Complementation Group Proteins
  • Female
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing
  • Humans
  • Molecular Sequence Data
  • Mutagenesis, Site-Directed
  • Protein Binding / physiology
  • Protein Structure, Tertiary / genetics
  • RNA Helicases / genetics
  • RNA Helicases / metabolism*
  • Recombinant Fusion Proteins / genetics
  • Recombinant Fusion Proteins / metabolism
  • Sequence Homology, Amino Acid
  • Spectrometry, Mass, Electrospray Ionization
  • Transfection

Substances

  • BRCA1 Protein
  • DNA-Binding Proteins
  • Fanconi Anemia Complementation Group Proteins
  • Recombinant Fusion Proteins
  • DNA Helicases
  • BRIP1 protein, human
  • RNA Helicases

Associated data

  • GENBANK/AF360549