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

The P23H mutant rhodopsin allele DNA recognition sequence refers to the specific genomic locus in the RHO gene containing the c.68C>A mutation. This mutation leads to the substitution of proline with histidine at the 23rd amino acid of the rhodopsin protein, which is the most common cause of autosomal dominant retinitis pigmentosa (adRP) in North America [1][2]. The mutant P23H rhodopsin protein is prone to misfolding and retention in the endoplasmic reticulum, triggering the unfolded protein response and leading to the progressive death of rod photoreceptor cells [2][3]. As a therapeutic target, this DNA sequence is approached using allele-specific gene editing technologies, such as CRISPR/Cas9 or base editors, designed to selectively knock out or repair the mutant allele [1][4]. Maintaining the integrity of the wild-type RHO allele is vital, as rhodopsin is the primary light-sensitive pigment required for scotopic vision [3]. Successful targeting aims to halt the progression of retinal degeneration and preserve visual function in affected patients [4]. Current research focuses on using viral vectors like adeno-associated virus (AAV) to deliver these editing tools directly to the subretinal space [1]. This target represents a paradigm shift from traditional pharmacology toward precision genomic medicine for inherited retinal diseases.

Other names

P23H rhodopsin geneRHO P23H mutation sitePro23His rhodopsin alleleRHO c.68C>A mutation sequenceRhodopsin P23H DNA recognition site

Allele-specific gene editing to selectively disrupt or correct the mutant DNA sequence while sparing the functional wild-type allele.