VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line
Figure 1
Schematic map of the Adh gene. (a) Rectangles represent exons; black box represents promoter region; hatched boxes indicate coding regions; punctated boxes represent untranslated regions. The horizontal lines represent introns, IN1-IN3. The position of the mutations are indicated with vertical lines marked with a star; is the mutation affecting splicing while is a nonsense mutation. (b) and (c) Compared levels of Adh and Upf1 transcripts in flies that were heterozygous for Adh alleles and for Upf1D45B. A 3.8- and 8.8-fold accumulation of nonsense-containing Adh mRNA was observed in Adhn4/β2::GAL4; UAS:Upf1D45B/+ and 2::GAL4; UAS:Upf1D45B/+ mutant flies with respect to the endogenous levels of Adh and Upf1 control mRNAs. The experiment was repeated three times.
