Construction of FANCA mutant protein from Fanconi anemia patient and analysis of its function / 中华血液学杂志
Chinese Journal of Hematology
; (12): 741-744, 2007.
Article
in Zh
| WPRIM
| ID: wpr-262955
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To study FANCA protein expression in Fanconi anemia patient's (FA) cells and explore its function.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSIONS</b>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.</p>
Full text:
1
Index:
WPRIM
Main subject:
Lymphocytes
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Cell Line
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Exons
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Fanconi Anemia Complementation Group A Protein
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Fanconi Anemia
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Genetics
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Metabolism
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Mutation
Limits:
Child
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Hematology
Year:
2007
Type:
Article