BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ
Graduate School of Biomedical Sciences; Department of Cancer Biology; Program in Molecular Medicine
Medical Subject Headings
Basic-Leucine Zipper Transcription Factors; Breast Neoplasms; Cell Division; Cell Line, Tumor; Chromosome Mapping; DNA Primers; Fanconi Anemia; Fanconi Anemia Complementation Group Proteins; Female; G2 Phase; Genes, Reporter; Green Fluorescent Proteins; Humans; Leucine Zippers; *Recombination, Genetic; Transcription Factors; Transfection
Life Sciences | Medicine and Health Sciences
We showed in this study that cells deficient of the BRCA1-associated BACH1 helicase, also known as BRIP1, failed to elicit homologous recombination (HR) after DNA double-stranded breaks (DSBs). BACH1-deficient cells were also sensitive to mitomycin C (MMC) and underwent MMC-induced chromosome instability. Moreover, we identified a homozygous nonsense mutation in BACH1 in a FA-J patient-derived cell line and could not detect BACH1 protein in this cell line. Expression of wild-type BACH1 in this cell line reduced the accumulation of cells at G2/M phases following exposure to DNA crosslinkers, a characteristic of Fanconi anemia (FA) cells. These results support the conclusion that BACH1 is FANCJ.
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Citation: Cancer Cell. 2005 Sep;8(3):255-65. Link to article on publisher's site