CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin
Abstract
:1. Introduction
2. Materials and Methods
- variant type into insertions/deletions/duplications (indels, not editable with base editors) and SNVs (possibly editable with base editors);
- predicted variant consequence into nonsense, missense, synonymous, splice site (+/− 2 nucleotides from exon-intron boundaries), intronic, 3′ and 5′ untranslated region (UTR), stop loss and start loss variants; and by
- clinical interpretation of the variant pathogenicity into pathogenic/likely pathogenic, variant of unknown clinical significance (VUS), conflicting interpretations of pathogenicity and benign/likely benign variants.
3. Results
3.1. LOVD
3.2. ClinVar
3.3. gnomAD
3.4. PAM Site Screening and Guide RNA Design
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Kaukonen, M.; McClements, M.E.; MacLaren, R.E. CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin. Genes 2022, 13, 1327. https://doi.org/10.3390/genes13081327
Kaukonen M, McClements ME, MacLaren RE. CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin. Genes. 2022; 13(8):1327. https://doi.org/10.3390/genes13081327
Chicago/Turabian StyleKaukonen, Maria, Michelle E. McClements, and Robert E. MacLaren. 2022. "CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin" Genes 13, no. 8: 1327. https://doi.org/10.3390/genes13081327
APA StyleKaukonen, M., McClements, M. E., & MacLaren, R. E. (2022). CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin. Genes, 13(8), 1327. https://doi.org/10.3390/genes13081327