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VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line.
Micale, Lucia; Muscarella, Lucia Anna; Marzulli, Marco; Augello, Bartolomeo; Tritto, Patrizia; D'Agruma, Leonardo; Zelante, Leopoldo; Palumbo, Gioacchino; Merla, Giuseppe.
Afiliação
  • Micale L; Medical Genetics, IRCCS "Casa Sollievo della Sofferenza," Viale Cappuccini, 71013 San Giovanni Rotondo, Italy.
J Biomed Biotechnol ; 2009: 860761, 2009.
Article em En | MEDLINE | ID: mdl-20145706
ABSTRACT
There are many well-studied examples of human phenotypes resulting from nonsense or frameshift mutations that are modulated by Nonsense-Mediated mRNA Decay (NMD), a process that typically degrades transcripts containing premature termination codons (PTCs) in order to prevent translation of unnecessary or aberrant transcripts. Different types of germline mutations in the VHL gene cause the von Hippel-Lindau disease, a dominantly inherited familial cancer syndrome with a marked phenotypic variability and age-dependent penetrance. By generating the Drosophila UASUpf1(D45B) line we showed the possible involvement of NMD mechanism in the modulation of the c.172delG frameshift mutation located in the exon 1 of Vhl gene. Further, by Quantitative Real-time PCR (QPCR) we demonstrated that the corresponding c.163delG human mutation is targeted by NMD in human HEK 293 cells. The UASUpf1(D45B) line represents a useful system to identify novel substrates of NMD pathway in Drosophila melanogaster. Finally, we suggest the possible role of NMD on the regulation of VHL mutations.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Estabilidade de RNA / Drosophila melanogaster / Proteína Supressora de Tumor Von Hippel-Lindau Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: J Biomed Biotechnol Assunto da revista: BIOTECNOLOGIA / MEDICINA Ano de publicação: 2009 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Estabilidade de RNA / Drosophila melanogaster / Proteína Supressora de Tumor Von Hippel-Lindau Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: J Biomed Biotechnol Assunto da revista: BIOTECNOLOGIA / MEDICINA Ano de publicação: 2009 Tipo de documento: Article País de afiliação: Itália