ArticleScientific reports2017
Targeted RP9 ablation and mutagenesis in mouse photoreceptor cells by CRISPR-Cas9.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
- RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa.European journal of human genetics : EJHG · 2026Article
- Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.Biomolecules · 2025Review
- Retinitis pigmentosa and stem cell therapy.International journal of ophthalmology · 2024Review
- The application and progression of CRISPR/Cas9 technology in ophthalmological diseases.Eye (London, England) · 2023Review
- Comparative Genomics Provides Insights into Adaptive Evolution in Tactile-Foraging Birds.Genes · 2022Article
- Fascin-1: Updated biological functions and therapeutic implications in cancer biology.BBA advances · 2022Review
- CRISPR-Based Genome Editing as a New Therapeutic Tool in Retinal Diseases.Molecular biotechnology · 2021Review
- Review
- Amyloid β Induces Early Changes in the Ribosomal Machinery, Cytoskeletal Organization and Oxidative Phosphorylation in Retinal Photoreceptor Cells.Frontiers in molecular neuroscience · 2019Article
- CRISPR/Cas9 genome surgery for retinal diseases.Drug discovery today. Technologies · 2018Review
- Gene therapy and genome surgery in the retina.The Journal of clinical investigation · 2018Review
- CRISPR/Cascade 9-Mediated Genome Editing-Challenges and Opportunities.Frontiers in genetics · 2018Review
- CRISPR-Cas Genome Surgery in Ophthalmology.Translational vision science & technology · 2017Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Precursor messenger RNA (Pre-mRNA) splicing is an essential biological process in eukaryotic cells. Genetic mutations in many spliceosome genes confer human eye diseases. Mutations in the pre-mRNA splicing factor, RP9 (also known as PAP1), predispose autosomal dominant retinitis pigmentosa (adRP) with an early onset and severe vision loss. However, underlying molecular mechanisms of the RP9 mutation causing photoreceptor degeneration remains fully unknown. Here, we utilize the CRISPR/Cas9 system to generate both the Rp9 gene knockout (KO) and point mutation knock in (KI) (Rp9, c.A386T, P.H129L) which is analogous to the reported one in the retinitis pigmentosa patients (RP9, c.A410T, P.H137L) in 661 W retinal photoreceptor cells in vitro. We found that proliferation and migration were significantly decreased in the mutated cells. Gene expression profiling by RNA-Seq demonstrated that RP associated genes, Fscn2 and Bbs2, were down-regulated in the mutated cells. Furthermore, pre-mRNA splicing of the Fscn2 gene was markedly affected. Our findings reveal a functional relationship between the ubiquitously expressing RP9 and the disease-specific gene, thereafter provide a new insight of disease mechanism in RP9-related retinitis pigmentosa.
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Registered trials
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