Identification of circular RNAs hosted by the RPGR ORF15 genomic locus.

ABSTRACT: Mutations in the retina-specific isoform of the gene encoding retinitis pigmentosa GTPase regulator (RPGR^orf15) cause X-linked retinitis pigmentosa, a severe and early onset inherited retinal degeneration. The underlying pathogenic mechanisms and variability in disease severity remain to be fully elucidated. The present study examines structural features of the ORF15 exonic region to provide new insights into the disease pathogenesis. Using canine and human RNA samples, we identified several novel RPGR ORF15-like linear RNA transcripts containing cryptic introns (exitrons) within the annotated exon ORF15. Furthermore, using outward-facing primers designed inside exitrons in the ORF15 exonic region, we found many of previously unidentified circular RNAs (circRNAs) that for

SUBMITTER: Appelbaum T 

PROVIDER: S-EPMC9817113 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature