BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ

作者：Litman R; Peng M; Jin Z; Zhang F; Zhang JR; Powell S; Andreassen PR; Cantor SB^*

来源：Cancer Cell, 2005, 8(3): 255-265.

DOI：10.1016/j.ccr.2005.08.004

We showed in this study that cells deficient of the BRCA1-associated BACH1 helicase, also known as BRIPi, 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.

• 出版日期2005-9