BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.
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.
Litman
Rachel
R
Department of Cancer Biology, University of Massachusetts Medical School, Worcester, 01605, USA.
Peng
Min
M
Jin
Zhe
Z
Zhang
Fan
F
Zhang
Junran
J
Powell
Simon
S
Andreassen
Paul R
PR
Cantor
Sharon B
SB
D050976:Basic-Leucine Zipper Transcription Factors; D001943:Breast Neoplasms; D002455:Cell Division; D045744:Cell Line, Tumor; D002874:Chromosome Mapping; D017931:DNA Primers; D005199:Fanconi Anemia / Q000235:genetics*; D051856:Fanconi Anemia Complementation Group Proteins; D005260:Female; D016195:G2 Phase; D017930:Genes, Reporter; D049452:Green Fluorescent Proteins / Q000235:genetics; D006801:Humans; D016350:Leucine Zippers; D011995:Recombination, Genetic; D014157:Transcription Factors / Q000172:deficiency / Q000235:genetics*; D014162:Transfection
C102108:BACH1 protein, human; D050976:Basic-Leucine Zipper Transcription Factors; D017931:DNA Primers; D051856:Fanconi Anemia Complementation Group Proteins; D014157:Transcription Factors; D049452:Green Fluorescent Proteins