Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin
J. Clin. Invest. Liat Linde, et al. 117:683 doi:10.1172/JCI28523 [Go to this article.]

Figure 1
Levels of CFTR nonsense transcripts in nasal epithelium of CF patients. (A) A scheme of localization of the CFTR mutations carried by the studied patients. The numbers within the boxes mark the CFTR exons. The connecting horizontal line marks intron 19. (B) An example of GeneScan analysis of RT-PCR products from the ΔF508 region (patient 3). The size marker appears as a red peak (260 bp). (C) A summary of the W1282X transcript levels in the W1282X/ΔF508 patients. These levels were compared to the level of ΔF508 transcripts. (D) An example of real-time PCR of the CFTR and the RPS9 genes, of RNA from 2 patients (nos. 8 and 9) homozygous for W1282X and a control individual with normal CFTR alleles. (E) A summary of the CFTR transcript levels, in the patients carrying 2 nonsense mutations. The levels were normalized to the level of RPS9 and compared to the normalized level obtained from a control individual with normal CFTR alleles. The asterisk marks the CFTR transcript level in patient 3, who was also analyzed as described in C, for comparison of the results of the GeneScan and real-time PCR analyses. (F) An example of GeneScan analysis of RT-PCR products of the CFTR and the KRT18, in a patient homozygous for the W1282X mutation (patient 6). The size marker appears as red peaks (260 bp and 300 bp). (G) A summary of the CFTR transcript levels in the patients carrying 2 nonsense mutations. These levels were normalized to the level of KRT18 and compared to the normalized level obtained from a control individual with normal CFTR alleles. The asterisk marks the CFTR transcript level in patient 5, who was also analyzed as described in C, for comparison of the GeneScan results. The levels in C, E, and G, are shown as mean ± SEM.