VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line
Joint Authors
Augello, Bartolomeo
Muscarella, Lucia Anna
Merla, Giuseppe
Palumbo, Gioacchino
Tritto, Patrizia
Micale, Lucia
Marzulli, Marco
Zelante, Leopoldo
D'Agruma, Leonardo
Source
Journal of Biomedicine and Biotechnology
Issue
Vol. 2009, Issue 2009 (31 Dec. 2009), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2010-01-21
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
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 UAS:Upf1D45B 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 UAS:Upf1D45B 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.
American Psychological Association (APA)
Micale, Lucia& Muscarella, Lucia Anna& Marzulli, Marco& Augello, Bartolomeo& Tritto, Patrizia& D'Agruma, Leonardo…[et al.]. 2010. VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line. Journal of Biomedicine and Biotechnology،Vol. 2009, no. 2009, pp.1-9.
https://search.emarefa.net/detail/BIM-504121
Modern Language Association (MLA)
Micale, Lucia…[et al.]. VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line. Journal of Biomedicine and Biotechnology No. 2009 (2009), pp.1-9.
https://search.emarefa.net/detail/BIM-504121
American Medical Association (AMA)
Micale, Lucia& Muscarella, Lucia Anna& Marzulli, Marco& Augello, Bartolomeo& Tritto, Patrizia& D'Agruma, Leonardo…[et al.]. VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line. Journal of Biomedicine and Biotechnology. 2010. Vol. 2009, no. 2009, pp.1-9.
https://search.emarefa.net/detail/BIM-504121
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-504121