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Medline ® Abstract for Reference 3

of 'Clinical manifestations and diagnosis of Fanconi anemia'

3
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BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.
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Litman R, Peng M, Jin Z, Zhang F, Zhang J, Powell S, Andreassen PR, Cantor SB
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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.
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Department of Cancer Biology, University of Massachusetts Medical School, Worcester, 01605, USA.
PMID