Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2008
[Search for Fanconi anemia/BRCA pathway defects in lymphoma cell lines].
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Xiao Hui, Zhang Kejian, Xia Bing
Аннотация
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.
CONCLUSION: This mutation may be the reason causing the absence of the FANCN protein expression or making the protein unstable and losing its function.
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.
CONCLUSION: This mutation may be the reason causing the absence of the FANCN protein expression or making the protein unstable and losing its function.
Предметные рубрики MeSH
AnimalsAntibiotics, AntineoplasticBRCA2 ProteinBase SequenceCell CycleCell Line, TumorCell ProliferationChromosome BreakageFanconi AnemiaFanconi Anemia Complementation Group D2 ProteinFanconi Anemia Complementation Group N ProteinGene Expression Regulation, NeoplasticGenomic InstabilityHumansLymphomaMitomycinMolecular Sequence DataMutationNuclear ProteinsProtein StabilitySequence Analysis, DNASignal TransductionTumor Suppressor Proteins