Ask about this productRelated genes to: OPN1MW antibody
- Gene:
- OPN1MW NIH gene
- Name:
- opsin 1, medium wave sensitive
- Previous symbol:
- GCP, CBBM, CBD
- Synonyms:
- OPN1MW1, COD5
- Chromosome:
- Xq28
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2017-01-17
Related products to: OPN1MW antibody
Related articles to: OPN1MW antibody
- Blue cone monochromacy (BCM) is a congenital vision disorder caused by the loss of L- and M-cone function, leading to severe loss of visual acuity and color perception deficits. To test gene therapy for BCM in a model that mimics the densely packed foveal cones of human retinas, we generated a triple knockout (TKO) mouse model ( ) with an all-cone retina lacking cone opsins. These mice exhibit abolished cone function, disrupted phototransduction, and altered metabolite profiles resulting from loss of opsin. We then administered AAV-mediated human L-opsin gene supplementation therapy at 1 and 5 months of age to assess cone treatability before and after cone degeneration occurs. Treatment restored cone function, replenished essential cone phototransduction proteins, and partially regenerated some cone outer segment membrane structure. Rescue effects persisted for at least 5 months post-treatment in both younger and older treated groups. These findings demonstrate that opsin-deficient, densely packed cones remain viable targets for gene therapy and support the clinical potential of this approach in BCM patients. - Source: PubMed
Publication date: 2025/12/26
Cahill Marion EChmelik KathrynAshcraft Madyson EBrothers Brooke AGuan TongjuNguyen JonathanPuja ArtjolaEminhizer MarkShaw Lee MBarbera Robert JSechrest Emily RDu JianhaiDeng Wen-Tao - Blue cone monochromacy (BCM) is a severe X-linked blinding disorder caused by mutations in the OPN1LW/OPN1MW locus, resulting in impaired cone function and structural degeneration. We conduct a comparative analysis of AAV gene therapy in Opn1mw/Opn1sw (double knockout, DKO) and Opn1mw/Opn1sw (C198R) BCM mouse models to contrast therapeutic outcomes at different stages. We demonstrate the AAV8 capsid achieves superior rescue compared to AAV5. Both DKO and C198R models show comparable therapeutic outcomes, with efficacy consistently decreasing in older mice. Structural analysis reveals both models display rapid degenerative changes in cone outer and inner segments. We observe age-related reductions in transgene expression for both models, potentially resulting from decreased cone transducibility, transgene silencing/downregulation, or disease-related genome expression alterations. Notably, the Pde6c and Cngb3 promoters maintain robust activity in degenerating cones. These findings suggest use of an optimized cone promoter can ultimately extend the therapeutic window and treatment longevity in BCM cones. - Source: PubMed
Publication date: 2025/11/24
Brothers Brooke ASechrest Emily RMa LiAshcraft Madyson EGuan TongjuBarbera Robert JShaw Lee MChen BeckyBaehr WolfgangHu GangqingStoilov PeterDeng Wen-Tao - Inherited retinal dystrophies (IRDs) are a diverse group of monogenic disorders associated with dysfunction of the retina. High myopia, commonly defined as a spherical equivalent ≤ -6.00 D or axial length ≥ 26.5 mm, is a recurring clinical feature across several IRDs, and could serve as an early diagnostic clue. This review provides a summary of IRDs associated with high myopia to guide the clinician in establishing a molecular diagnosis for patients. We performed a comprehensive literature review of articles in PubMed, ScienceDirect, and JAMA Network to identify associations between monogenic IRDs and high myopia. Genes associated with IRDs and high myopia clustered into functional categories that included collagen/structural integrity (, , , , ), phototransduction and visual cycle (, , , , ), ciliary trafficking and microtubule-associated genes (, , , , ), synaptic ribbon and bipolar cell signaling (, , , , , ), opsin-related genes (, ), and miscellaneous categories (, , ). Associations between IRDs and high myopia spanned stationary and progressive retinal disorders and included both cone-dominant and rod-dominant diseases. High myopia accompanied by other visual symptoms and signs such as nyctalopia, photophobia, or reduced best-corrected visual acuity should heighten suspicion for an underlying IRD. Earlier diagnosis of IRDs for patients could facilitate timely genetic counseling, participation in clinical trials, and interventions for patients to preserve vision. - Source: PubMed
Publication date: 2025/10/11
Liu CyndySheri NarinBenson Matthew D - Epigenetic modulation enables precise gene regulation without altering DNA sequences. While histone acetylation has been widely utilized for gene activation, the therapeutic potential of histone methylation remains underexplored. In this study, we developed a new epigenetic activator by fusing the histone methyltransferase SETD7 to deactivated Cas9 (dCas9). The optimized SETD7-dCas9 fusion protein successfully induced H3K4 mono-methylation and activated transcription at multiple target loci. We further established a prediction model using promoter CpG methylation status to identify genes most responsive to SETD7-dCas9-mediated activation. To evaluate therapeutic relevance, we targeted the medium-wavelength-sensitive opsin gene (), which is crucial for cone photoreceptor function as a strategy for treating retinitis pigmentosa. SETD7-dCas9-mediated activation of restored light absorption properties comparable with rhodopsin, effectively compensating for rhodopsin deficiency in an disease model. These findings demonstrate the potential of histone methylation-based gene activation as a mutation-independent therapeutic strategy. The SETD7-dCas9 system represents a promising epigenome editing platform for precision gene regulation in diverse diseases. - Source: PubMed
Publication date: 2025/08/11
Tran Na LyKang Yoo EunJeong HyeyeonKim YeojinShin Sang ChulKim Sang-HeonPark ByeonghoOh Seung Ja - The retina exhibits conserved structural and functional features across species, yet the evolutionary mechanisms underlying color vision remain unclear. Here, we employ a single-cell prediction (scPred) model to construct a cross-species single-cell retinal atlas from 24 species. We identify conserved retinal cell types and expression patterns, with photoreceptor cells, especially rods, showing evolutionary shifts. Opsin expression and transcriptional programs in rods and cones display species-specific patterns. Cone subtypes exhibit distinct metabolic features, with fatty acid biosynthesis enriched in OPN1SW and OPN1MW cones and FOXO3 specifically linked to OPN1LW cones. Fluorescence in situ hybridization (FISH) and quantitative real-time PCR validate cone subtype-specific transcription factors and metabolic genes in representative species. This work provides a valuable resource for understanding the transcriptional and metabolic basis of color vision and guides the selection of model organisms for studying color-vision-related diseases. - Source: PubMed
Publication date: 2025/08/20
Li ZhibinYan ChengkaiLu YubaoShu YaqingWu ShilinCheng XiWang YugeShen ShishiYang HuiCao GangJi JianpingZhang LiangmingSun JianXiao DongchangLi ShashaQiu Wei