An ARHGEF10 Deletion Is Highly Associated with a Juvenile-Onset Inherited Polyneuropathy in Leonberger and Saint Bernard Dogs
Figure 3
(A) Genomic DNA. Electropherograms of the ARHGEF10 c.1955_1958+6delCACGGTGAGC mutation. Representative sequence traces of PCR products amplified from genomic DNA of 3 dogs with the different genotypes are shown. (B) Transcript. Electropherograms of RT-PCR using primers in exon 17 and 19. Representative sequence traces of RT-PCR products amplified from cDNA of 3 dogs with the different genotypes are shown. Note the underrepresentation of the mutant transcript in the heterozygous dog, which is probably due to nonsense mediated decay (NMD). Both the normal and the new splice site created by the deletion are underlined (Panel A); the cryptic splice site in the deletion allele creates a cDNA missing only four base pairs, which creates a frame shift and predicts a premature stop codon within seven amino acid residues (Panel B).