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. 2014 Oct 24;24(5):1363–1373. doi: 10.1093/hmg/ddu545

Figure 2.

Figure 2.

Analysis of the GLE1-c.209C>A nonsense mutation. (A) Schematic comparison of the truncated hGle1-S70X and hGle1B-WT proteins. (B) Sequencing chromatograms for cDNAs prepared from puromycin treated/untreated LCL of three control individuals and the ALS case presenting the GLE1-c.209C>A mutation (note: three cDNAs produced from three separate RNA extractions were analyzed for the GLE1-c.209C>A LCL). Arrows indicate the c.209C residue. (C) Quantitative allele-specific expression measurements for WT and c.209C>A GLE1 mRNA in puromycin-treated and untreated GLE1-c.209C>A LCL. Expression levels calculated relative to the WT allele in four control LCL; error bars represent SEM.