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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.
Artículo en Chino | WPRIM | ID: wpr-262955
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>
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Linfocitos / Línea Celular / Exones / Proteína del Grupo de Complementación A de la Anemia de Fanconi / Anemia de Fanconi / Genética / Metabolismo / Mutación Límite: Niño / Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Hematology Año: 2007 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Linfocitos / Línea Celular / Exones / Proteína del Grupo de Complementación A de la Anemia de Fanconi / Anemia de Fanconi / Genética / Metabolismo / Mutación Límite: Niño / Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Hematology Año: 2007 Tipo del documento: Artículo