title: BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.
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.
authors: The Dana-Farber Cancer Institute and the Harvard, Medical School, Boston, MA 02115, USA.
authors: S B
authors: SB
authors: Cantor
authors: D W
authors: DW
authors: Bell
authors: S
authors: S
authors: Ganesan
authors: E M
authors: EM
authors: Kass
authors: R
authors: R
authors: Drapkin
authors: S
authors: S
authors: Grossman
authors: D C
authors: DC
authors: Wahrer
authors: D C
authors: DC
authors: Sgroi
authors: W S
authors: WS
authors: Lane
authors: D A
authors: DA
authors: Haber
authors: D M
authors: DM
authors: Livingston
mesh_terms: D000328:Adult; D020816:Amino Acid Motifs / Q000235:genetics; D019313:BRCA1 Protein / Q000378:metabolism*; D001665:Binding Sites / Q000502:physiology; D001900:Boston / Q000453:epidemiology; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D002460:Cell Line; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics / Q000378:metabolism*; D004260:DNA Repair / Q000235:genetics*; D004268:DNA-Binding Proteins; D051856:Fanconi Anemia Complementation Group Proteins; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008969:Molecular Sequence Data; D016297:Mutagenesis, Site-Directed; D011485:Protein Binding / Q000502:physiology; D017434:Protein Structure, Tertiary / Q000235:genetics; D020365:RNA Helicases / Q000235:genetics / Q000378:metabolism*; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D017386:Sequence Homology, Amino Acid; D021241:Spectrometry, Mass, Electrospray Ionization; D014162:Transfection
chemical_list: D019313:BRCA1 Protein; D004268:DNA-Binding Proteins; D051856:Fanconi Anemia Complementation Group Proteins; D011993:Recombinant Fusion Proteins; D004265:DNA Helicases; C000618935:BRIP1 protein, human; D020365:RNA Helicases