Rhodopsin (RHO) P23H mutant allele DNA recognition sequence (RHO P23H DNA)

The P23H mutant rhodopsin allele 22-bp DNA recognition sequence is a specific genomic locus within the Rhodopsin (RHO) gene that contains the c.68C>A point mutation (Source: NIH, GeneReviews). This mutation leads to the production of a misfolded rhodopsin protein, which triggers endoplasmic reticulum stress and apoptosis in rod photoreceptor cells, ultimately causing autosomal dominant retinitis pigmentosa (adRP) (Source: PubMed, PMID: 25101605). As the most prevalent mutation associated with adRP in North America, this DNA sequence represents a critical target for precision medicine. In the context of therapeutic development, this 22-bp sequence serves as the binding site for allele-specific gene-editing tools like CRISPR/Cas9 (Source: Nature Communications, 2014). Experimental therapies, such as EDIT-102, utilize guide RNAs (gRNAs) designed to recognize this specific sequence to induce double-strand breaks only in the mutant allele (Source: Editas Medicine). This targeted disruption aims to silence the toxic mutant gene through non-homologous end joining (NHEJ) while preserving the expression of the healthy wild-type allele. This strategy is designed to halt the progression of retinal degeneration and preserve vision in affected patients (Source: Investigative Ophthalmology & Visual Science, 2018).

Other names

P23H RHO mutation siteRhodopsin P23H alleleRHO c.68C>A sequenceP23H gRNA target site

Allele-specific gene knockout via CRISPR/Cas9-mediated non-homologous end joining (NHEJ) (Source: Nature, 2017)