[Search for Fanconi anemia/BRCA pathway defects in lymphoma cell lines].
OBJECTIVE
To investigate the possible relationship between defects in the FA/BRCA pathway of genomic stability and potential pathogenesis of T and B cell lymphoma.


METHODS
Nineteen cell lines derived from diverse subtypes of lymphoma for possible FA pathway defects were screened.


RESULTS
No defect in FANCD2 ubiquitination was observed. However, the FANCN protein was absent in cell lines HT and Sudhl4. This absence was correlated with enhanced MMC-induced G2 arrest, growth inhibition and high chromosomal breakage rate in both cell lines. In addition, in exon-5a of FANCN gene, a mutation of c.1769 C>T, p. A590V was found in cell line HT, but not in cell line Sudhl4.


CONCLUSIONS
This mutation may be the reason causing the absence of the FANCN protein expression or making the protein unstable and losing its function.
Department of Hematology, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, P.R. China. huixiaowh@yahoo.com.cn
Hui
H
Xiao
Kejian
K
Zhang
Bing
B
Xia
D000818:Animals; D000903:Antibiotics, Antineoplastic / Q000494:pharmacology; D024682:BRCA2 Protein / Q000378:metabolism*; D001483:Base Sequence; D002453:Cell Cycle / Q000187:drug effects; D045744:Cell Line, Tumor; D049109:Cell Proliferation / Q000187:drug effects; D019457:Chromosome Breakage / Q000187:drug effects; D005199:Fanconi Anemia / Q000378:metabolism*; D052236:Fanconi Anemia Complementation Group D2 Protein / Q000378:metabolism; D000076164:Fanconi Anemia Complementation Group N Protein; D015972:Gene Expression Regulation, Neoplastic; D042822:Genomic Instability; D006801:Humans; D008223:Lymphoma / Q000235:genetics / Q000473:pathology*; D016685:Mitomycin / Q000494:pharmacology; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D055550:Protein Stability; D017422:Sequence Analysis, DNA; D015398:Signal Transduction; D025521:Tumor Suppressor Proteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics / Q000378:metabolism
D000903:Antibiotics, Antineoplastic; D024682:BRCA2 Protein; D052236:Fanconi Anemia Complementation Group D2 Protein; D000076164:Fanconi Anemia Complementation Group N Protein; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins; D016685:Mitomycin