ArticleNucleic acids research2011
Efficient mutagenesis of the rhodopsin gene in rod photoreceptor neurons in mice.
Article in Nucleic acids research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 29 citations in OpenAlex.
- Article
- Non-Viral Delivery of CRISPR/Cas Cargo to the Retina Using Nanoparticles: Current Possibilities, Challenges, and Limitations.Pharmaceutics · 2022Review
- Subcellular localization of mutant P23H rhodopsin in an RFP fusion knock-in mouse model of retinitis pigmentosa.Disease models & mechanisms · 2022Article
- How to create state-of-the-art genetic model systems: strategies for optimal CRISPR-mediated genome editing.Nucleic acids research · 2018Review
- Repurposing CRISPR-Cas12b for mammalian genome engineering.Cell discovery · 2018Article
- Adeno-associated Virus (AAV) Dual Vector Strategies for Gene Therapy Encoding Large Transgenes.The Yale journal of biology and medicine · 2017Review
- Using nanoBRET and CRISPR/Cas9 to monitor proximity to a genome-edited protein in real-time.Scientific reports · 2017Article
- Gene therapy approaches for prevention of retinal degeneration in Usher syndrome.Gene therapy · 2017Review
- In vivo Editing of the Human Mutant Rhodopsin Gene by Electroporation of Plasmid-based CRISPR/Cas9 in the Mouse Retina.Molecular therapy. Nucleic acids · 2016Article
- Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.Experimental eye research · 2016Article
- Precise Genome Modification via Sequence-Specific Nucleases-Mediated Gene Targeting for Crop Improvement.Frontiers in plant science · 2016Review
- Article
- Gene therapy to treat cardiac arrhythmias.Nature reviews. Cardiology · 2015Review
- Article
- Dissecting neural function using targeted genome engineering technologies.ACS chemical neuroscience · 2012Review
- Rhodopsin gene expression determines rod outer segment size and rod cell resistance to a dominant-negative neurodegeneration mutant.PloS one · 2012Article
- Mislocalization and degradation of human P23H-rhodopsin-GFP in a knockin mouse model of retinitis pigmentosa.Investigative ophthalmology & visual science · 2011Article
- Clustered Regularly Interspaced Short Palindromic Repeats: Challenges in Treating Retinal Disease.Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Dominant mutations in the rhodopsin gene, which is expressed in rod photoreceptor cells, are a major cause of the hereditary-blinding disease, autosomal dominant retinitis pigmentosa. Therapeutic strategies designed to edit such mutations will likely depend on the introduction of double-strand breaks and their subsequent repair by homologous recombination or non-homologous end joining. At present, the break repair capabilities of mature neurons, in general, and rod cells, in particular, are undefined. To detect break repair, we generated mice that carry a modified human rhodopsin-GFP fusion gene at the normal mouse rhodopsin locus. The rhodopsin-GFP gene carries tandem copies of exon 2, with an ISceI recognition site situated between them. An ISceI-induced break can be repaired either by non-homologous end joining or by recombination between the duplicated segments, generating a functional rhodopsin-GFP gene. We introduced breaks using recombinant adeno-associated virus to transduce the gene encoding ISceI nuclease. We found that virtually 100% of transduced rod cells were mutated at the ISceI site, with ∼85% of the genomes altered by end joining and ∼15% by the single-strand annealing pathway of homologous recombination. These studies establish that the genomes of terminally differentiated rod cells can be efficiently edited in living organisms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.