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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 20-27 |
| Number of pages | 8 |
| Journal | Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis |
| Volume | 712 |
| Issue number | 1-2 |
| DOIs | |
| State | Published - Jul 1 2011 |
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Keywords
- FancD2
- Fanconi anemia
- G2 arrest
- Interstrand crosslink
- Rad51
- Radial
ASJC Scopus subject areas
- Molecular Biology
- Genetics
- Health, Toxicology and Mutagenesis
Cite this
The phenotype of FancB-mutant mouse embryonic stem cells. / Kim, Tae Moon; Ko, Jun Ho; Choi, Yong Jun; Hu, Lingchuan; Hasty, Edward P.
In: Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 712, No. 1-2, 01.07.2011, p. 20-27.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The phenotype of FancB-mutant mouse embryonic stem cells
AU - Kim, Tae Moon
AU - Ko, Jun Ho
AU - Choi, Yong Jun
AU - Hu, Lingchuan
AU - Hasty, Edward P
PY - 2011/7/1
Y1 - 2011/7/1
N2 - 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.
AB - 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.
KW - FancD2
KW - Fanconi anemia
KW - G2 arrest
KW - Interstrand crosslink
KW - Rad51
KW - Radial
UR - http://www.scopus.com/inward/record.url?scp=79957705180&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79957705180&partnerID=8YFLogxK
U2 - 10.1016/j.mrfmmm.2011.03.010
DO - 10.1016/j.mrfmmm.2011.03.010
M3 - Article
C2 - 21458466
AN - SCOPUS:79957705180
VL - 712
SP - 20
EP - 27
JO - Mutation Research
JF - Mutation Research
SN - 0027-5107
IS - 1-2
ER -