Medline ® Abstract for Reference 3
of 'Clinical manifestations and diagnosis of Fanconi anemia'
BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.
Litman R, Peng M, Jin Z, Zhang F, Zhang J, Powell S, Andreassen PR, Cantor SB
Cancer Cell. 2005;8(3):255.
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.
Department of Cancer Biology, University of Massachusetts Medical School, Worcester, 01605, USA.