Open Close
Reference
Citation
Micale, L., Muscarella, L.A., Marzulli, M., Augello, B., Tritto, P., D'Agruma, L., Zelante, L., Palumbo, G., Merla, G. (2009). VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line.  J. Biomed. Biotechnol. 2009(): 860761.
FlyBase ID
FBrf0209893
Publication Type
Research paper
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 UAS:Upf1 (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 UAS:Upf1 (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.

PubMed ID
PubMed Central ID
PMC2817372 (PMC) (EuropePMC)
Related Publication(s)
Personal communication to FlyBase

P{βTub85D-GAL4.PK}.
Kaufman, 2013.3.20, P{βTub85D-GAL4.PK}. [FBrf0221137]

Associated Information
Comments
Associated Files
Other Information
Secondary IDs
    Language of Publication
    English
    Additional Languages of Abstract
    Parent Publication
    Publication Type
    Journal
    Abbreviation
    J. Biomed. Biotechnol.
    Title
    Journal of Biomedicine & Biotechnology
    Publication Year
    2001-
    ISBN/ISSN
    1110-7243
    Data From Reference
    Alleles (7)
    Genes (5)
    Human Disease Models (1)
    Natural transposons (1)
    Experimental Tools (2)
    Transgenic Constructs (5)