title: [Construction of FANCA mutant protein from Fanconi anemia patient and analysis of its function].
abstract: OBJECTIVE
  To study FANCA protein expression in Fanconi anemia patient's (FA) cells and explore its function.
  
  
  METHODS
  FANCA protein expression was analyzed in 3 lymphoblast cell lines derived from 3 cases of type A FA (FA-A) patients using Western blot. Nucleus and cytoplasm localization of FANCA protein was analyzed in one case of FA-A which contained a truncated FANCA (exon 5 deletion). The FANCA mutant was constructed from the same patient and its interaction with FANCG was evaluated by mammalian two-hybrid (M2H) assay.
  
  
  RESULTS
  FANCA protein was not detected in the 3 FA-A patients by rabbit anti-human MoAb, but a truncated FANCA protein was detected in 1 of them by mouse anti-human MoAb. The truncated FANCA could not transport from cytoplasm into nucleus. The disease-associated FANCA mutant was defective in binding to FANCG in M2H system.
  
  
  CONCLUSIONS
  FANCA proteins are defective in the 3 FA-A patients. Disfunction of disease-associated FANCA mutant proved to be the pathogenic mutations in FANCA gene. Exon 5 of FANCA gene was involved in the interaction between FANCA and FANCG.
authors.affiliation: Department of Hematology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China.
authors.forename: Fei
authors.initials: F
authors.lastname: Chen
authors.forename: Ke-Jian
authors.initials: KJ
authors.lastname: Zhang
authors.forename: Xue-Lan
authors.initials: XL
authors.lastname: Zuo
authors.forename: Xian-Chang
authors.initials: XC
authors.lastname: Zeng
mesh_terms: D002460:Cell Line; D002648:Child; D005091:Exons; D005199:Fanconi Anemia / Q000235:genetics* / Q000378:metabolism; D052217:Fanconi Anemia Complementation Group A Protein / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D009154:Mutation
chemical_list: D052217:Fanconi Anemia Complementation Group A Protein