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  Indian J Med Microbiol
 

Figure 4: Missense mutation Cftr p.G965D might affect CFTR function by decreasing its expressing and altering Cftr RNA splicing. (a) Immunoblots of CFTR protein in wild-type (WT) GC2 cells and TM4 cells with point mutations. Loading control was β-tubulin. Cftr p.G965D mutation reduced mature CFTR protein in GC2 but did not significantly affect TM4 Sertoli cells. C band: mature CFTR; B band: immature CFTR. (b) Splicing variant of Cftr mRNA produced in GC2-mutN6 cells. Sanger sequencing indicated RNA splicing variants. Red arrowhead indicates position of mutation and the sequence in the rectangular box indicates the abnormal splicing product. (c) mRNA splicing profiles in GC2-mutN6 cells. Rectangular boxes: exons; dotted lines: introns; red letters: mutation sites. CFTR: cystic fibrosis transmembrane conductance regulator; Pre-RNA: heterogeneous nuclear RNA.

Figure 4: Missense mutation <i>Cftr</i> p.G965D might affect CFTR function by decreasing its expressing and altering <i>Cftr</i> RNA splicing. (<b>a</b>) Immunoblots of CFTR protein in wild-type (WT) GC2 cells and TM4 cells with point mutations. Loading control was β-tubulin. <i>Cftr</i> p.G965D mutation reduced mature CFTR protein in GC2 but did not significantly affect TM4 Sertoli cells. C band: mature CFTR; B band: immature CFTR. (<b>b</b>) Splicing variant of <i>Cftr</i> mRNA produced in GC2-mutN6 cells. Sanger sequencing indicated RNA splicing variants. Red arrowhead indicates position of mutation and the sequence in the rectangular box indicates the abnormal splicing product. (<b>c</b>) mRNA splicing profiles in GC2-mutN6 cells. Rectangular boxes: exons; dotted lines: introns; red letters: mutation sites. CFTR: cystic fibrosis transmembrane conductance regulator; Pre-RNA: heterogeneous nuclear RNA.