ArticleScientific reports2016
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 36 citations in OpenAlex.
- Cone Opsins and Inherited Retinal Disease.Cells · 2026Review
- Gene therapy rescues cone function inMolecular therapy. Advances · 2026Article
- Gene therapy rescues cone function in an all-cone retina mouse model with the most common cone opsin C203R missense mutation.PloS one · 2026Article
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
- Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.NPJ genomic medicine · 2024Article
- Structural and functional rescue of cones carrying the most common cone opsin C203R missense mutation.JCI insight · 2024Article
- Expression of red/green-cone opsin mutants K82E, P187S, M273K result in unique pathobiological perturbations to cone structure and function.Frontiers in neuroscience · 2024Article
- Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Blue cone monochromacy and gene therapy.Vision research · 2023Review
- The causal mutation in ARR3 gene for high myopia and progressive color vision defect.Scientific reports · 2023Article
- Biology, Pathobiology and Gene Therapy of CNG Channel-Related Retinopathies.Biomedicines · 2023Review
- Mendelian or Multifactorial? Current Undergraduate Genetics Assessments Focus on Genes and Rarely Include the Environment.Journal of microbiology & biology education · 2022Article
- Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.NPJ genomic medicine · 2022Article
- The landscape of submicroscopic structural variants at theProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Gene Therapy inHuman gene therapy · 2022Article
- NovelInternational journal of molecular sciences · 2022Article
- Insight fromGenes · 2022Article
- Achromatopsia: Genetics and Gene Therapy.Molecular diagnosis & therapy · 2022Review
- Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.Molecular vision · 2022Article
- Disease mechanisms of X-linked cone dystrophy caused by missense mutations in the red and green cone opsins.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
Corrections and comments
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Authors and funding
23 authors at 15 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked cone dysfunction disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) or reduced L- and M- cone function due to defects in the OPN1LW/OPN1MW gene cluster. Here we investigated 24 affected males from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinations of common SNPs in exon 3 in single or multiple OPN1LW and OPN1MW gene copies. We assessed twelve different OPN1LW/MW exon 3 haplotypes by semi-quantitative minigene splicing assay. Nine haplotypes resulted in aberrant splicing of ≥20% of transcripts including the known pathogenic haplotypes (i.e. 'LIAVA', 'LVAVA') with absent or minute amounts of correctly spliced transcripts, respectively. De novo formation of the 'LIAVA' haplotype derived from an ancestral less deleterious 'LIAVS' haplotype was observed in one family with strikingly different phenotypes among affected family members. We could establish intrachromosomal gene conversion in the male germline as underlying mechanism. Gene conversion in the OPN1LW/OPN1MW genes has been postulated, however, we are first to demonstrate a de novo gene conversion within the lineage of a pedigree.
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