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Fig. 6 | Human Genomics

Fig. 6

From: A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa

Fig. 6

a Diagram of the LRAT gene showing the location of the c.541T>G variation and the fragment inserted into the pCMV-(DYKD4K)-C construct. b Electrophoresis results of cDNA amplification obtained from 293T cells and ARPE-19 cells transfected with the wildtype construct WT, mutated construct Mut, and empty construct pCMV. c Non-transfected and transfected ARPE19 cells were treated with 0, 5 μM, and 10 μM PTC124 separately for 24 h. There were no extra transcripts under PTC124 treatment. d Diagram of transcript in which splicing of WT-LRAT-pCMV is shown by a blue line; transcript splicing of Mut-LRAT-pCMV is shown by a red line. The forward primer used in cDNA amplification is within the exon 2 of LRAT and the reverse primer binds to the construct sequence of DYKD4K epitope, which are indicated by arrows (the AG shown in the 3′ UTR of LRAT refers to the last two AG in Fig. 4). A diagram of the PCR product of cDNA amplification from each construct is also shown in d

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