title: Defects of FA/BRCA pathway in lymphoma cell lines.
abstract: The aim was to find the possible relationship between defects in the FA/BRCA pathway of genomic maintenance and potential pathogenesis of T and B cell lymphoma. We screened 29 cell lines derived from diverse subtypes of lymphoma for possible FA pathway defects. The results indicated: no defect in FANCD2 ubiquitination, BRCA2 and FANCJ expression; absence of FANCN protein in three cell lines: HT, Sudhl4 and JEKO-1. This absence was correlated with enhanced MMC-induced G2 arrest, growth inhibition and high chromosomal breakage rate in the three cell lines. We only found one substitution in HT and JEKO-1 exon-5a fragment: c.1769C > T, p. A590V. But in another lymphoma cell line Sudhl4 with FANCN absence, we have not found any mutation. In conclusion, this mutation maybe the reason which caused FANCN protein expression absent or made the protein very unstable and lose its function in HT and JEKO-1 cell lines.
authors.affiliation: Department of Hematology, Zhongnan Hospital of Wuhan University, 430071, Wuhan, Hubei, People's Republic of China. huixiaowh@yahoo.com.cn.
authors.forename: Hui
authors.initials: H
authors.lastname: Xiao
authors.affiliation: Department of Hematology, Zhongnan Hospital of Wuhan University, 430071, Wuhan, Hubei, People's Republic of China.
authors.forename: Ke Jian
authors.initials: KJ
authors.lastname: Zhang
authors.affiliation: Department of Internal Medicine, Zhongnan Hospital of Wuhan University, 430071, Wuhan, Hubei, People's Republic of China.
authors.forename: Bing
authors.initials: B
authors.lastname: Xia
mesh_terms: D051017:Apoptosis Regulatory Proteins; D024682:BRCA2 Protein / Q000096:biosynthesis*; D050976:Basic-Leucine Zipper Transcription Factors / Q000096:biosynthesis* / Q000235:genetics; D045744:Cell Line, Tumor; D005091:Exons / Q000235:genetics; D052236:Fanconi Anemia Complementation Group D2 Protein / Q000096:biosynthesis*; D000076164:Fanconi Anemia Complementation Group N Protein; D051856:Fanconi Anemia Complementation Group Proteins / Q000096:biosynthesis* / Q000235:genetics; D016195:G2 Phase / Q000235:genetics; D015972:Gene Expression Regulation, Neoplastic / Q000235:genetics; D006801:Humans; D016393:Lymphoma, B-Cell / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D016399:Lymphoma, T-Cell / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D020125:Mutation, Missense; D009687:Nuclear Proteins; D015398:Signal Transduction; D025521:Tumor Suppressor Proteins
chemical_list: D051017:Apoptosis Regulatory Proteins; C102108:BACH1 protein, human; C118024:BLID protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human; D050976:Basic-Leucine Zipper Transcription Factors; C499905:FANCD2 protein, human; D052236:Fanconi Anemia Complementation Group D2 Protein; D000076164:Fanconi Anemia Complementation Group N Protein; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins