ArticleAmerican journal of human genetics2008
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers.
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Who cites it
102 citing papers in PubMed, 167 citations in OpenAlex.
- Review
- Overcoming size barriers in retinal gene therapy via lipid nanoparticle-mediated delivery of full-length eys DNA.Drug delivery and translational research · 2026Article
- A Tripartite AAV System with Engineered Lox Sites Enables Efficient Delivery of theHuman gene therapy · 2026Article
- Optical control of Cas9 activity through visible-light cleavable crRNAs.RSC chemical biology · 2026Article
- Phenotypic features of EYS-associated retinitis pigmentosa with the c.2528 G > A (p.Gly843Glu) mutation in a Japanese cohort.Scientific reports · 2026Article
- The mutational and clinical spectrum ofFrontiers in genetics · 2026Article
- Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients.NPJ genomic medicine · 2025Article
- Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.Investigative ophthalmology & visual science · 2025Article
- ProteinMolecules (Basel, Switzerland) · 2025Review
- Genetic Landscape of Nonsyndromic Retinitis Pigmentosa in Portugal.Advances in experimental medicine and biology · 2025Review
- Megabase Deletion of the Human EYS Locus Using CRISPR/Cas9.Advances in experimental medicine and biology · 2025Article
- Article
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
- Dystroglycan-HSPG interactions provide synaptic plasticity and specificity.Glycobiology · 2024Review
- Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.Scientific reports · 2024Article
- Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction.JCI insight · 2024Article
- Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy.Diagnostics (Basel, Switzerland) · 2023Article
- Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study.Scientific reports · 2022Article
- Deletion of POMT2 in Zebrafish Causes Degeneration of Photoreceptors.International journal of molecular sciences · 2022Article
42 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In patients with autosomal-recessive retinitis pigmentosa (arRP), homozygosity mapping was performed for detection of regions harboring genes that might be causative for RP. In one affected sib pair, a shared homozygous region of 5.0 Mb was identified on chromosome 6, within the RP25 locus. One of the genes residing in this interval was the retina-expressed gene EGFL11. Several genes resembling EGFL11 were predicted just centromeric of EGFL11. Extensive long-range RT-PCR, combined with 5'- and 3'- RACE analysis, resulted in the identification of a 10-kb transcript, starting with the annotated exons of EGFL11 and spanning 44 exons and 2 Mb of genomic DNA. The transcript is predicted to encode a 3165-aa extracellular protein containing 28 EGF-like and five laminin A G-like domains. Interestingly, the second part of the protein was found to be the human ortholog of Drosophila eyes shut (eys), also known as spacemaker, a protein essential for photoreceptor morphology. Mutation analysis in the sib pair homozygous at RP25 revealed a nonsense mutation (p.Tyr3156X) segregating with RP. The same mutation was identified homozygously in three arRP siblings of an unrelated family. A frame-shift mutation (pPro2238ProfsX16) was found in an isolated RP patient. In conclusion, we identified a gene, coined eyes shut homolog (EYS), consisting of EGFL11 and the human ortholog of Drosophila eys, which is mutated in patients with arRP. With a size of 2 Mb, it is one of the largest human genes, and it is by far the largest retinal dystrophy gene. The discovery of EYS might shed light on a critical component of photoreceptor morphogenesis.
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