The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness
Figure 3
(a) Electropherograms of genomic DNA of CEP290 sequenced in unaffected and rdAc affected individuals of exon 50/intron 50 junction. Arrow indicates position of SNP in intron 50, which uncovers a canonical GT splice donor site, resulting in alternative splicing in affected individuals. Exon 50 (red letters) and intron 50 (blue letters) nucleotides were identified by cDNA sequence analysis. GenBank Accession No. for feline CEP290: EF028068. (b) Electropherograms of cDNA for CEP290 3′ region of exon 50 generated from neural retinal tissue in affected and unaffected individuals. Alternative splicing in affected individuals results in a frame shift and introduction of a premature STOP codon. Reproduced with permission from [27].
