title: The phenotype of FancB-mutant mouse embryonic stem cells.
abstract: Fanconi anemia (FA) is a rare autosomal recessive disease characterized by bone marrow failure, developmental defects and cancer. There are multiple FA genes that enable the repair of interstrand crosslinks (ICLs) in coordination with a variety of other DNA repair pathways in a way that is poorly understood. Here we present the phenotype of mouse embryonic stem (ES) cells mutated for FancB. We found FancB-mutant cells exhibited reduced cellular proliferation, hypersensitivity to the crosslinking agent mitomycin C (MMC), increased spontaneous and MMC-induced chromosomal abnormalities, reduced spontaneous sister chromatid exchanges (SCEs), reduced gene targeting, reduced MMC-induced Rad51 foci and absent MMC-induced FancD2 foci. Since FancB is on the X chromosome and since ES cells are typically XY, FancB is an excellent target for an epistatic analysis to elucidate FA's role in ICL repair.
authors: Department of Molecular Medicine and Institute of Biotechnology, University of Texas Health Science Center at San Antonio, 15355 Lambda Drive, San Antonio, TX 78245, USA.
authors: Tae Moon
authors: TM
authors: Kim
authors: Jun Ho
authors: JH
authors: Ko
authors: Yong Jun
authors: YJ
authors: Choi
authors: Lingchuan
authors: L
authors: Hu
authors: Paul
authors: P
authors: Hasty
mesh_terms: D000818:Animals; D049109:Cell Proliferation; D002470:Cell Survival; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D053595:Embryonic Stem Cells; D005091:Exons; D005199:Fanconi Anemia / Q000235:genetics*; D051856:Fanconi Anemia Complementation Group Proteins / Q000235:genetics*; D005260:Female; D051379:Mice; D016685:Mitomycin / Q000494:pharmacology; D009154:Mutation; D010641:Phenotype; D011995:Recombination, Genetic
chemical_list: C000607976:FANCB protein, mouse; D051856:Fanconi Anemia Complementation Group Proteins; D016685:Mitomycin