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Article

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

Nature genetics - 1 Nov 2008

Abd El-Aziz Mai M, Barragan Isabel, O'Driscoll Ciara A, Goodstadt Leo, Prigmore Elena, Borrego Salud, Mena Marcela, Pieras Juan I, El-Ashry Mohamed F, Safieh Leen Abu, Shah Amna, Cheetham Michael E, Carter Nigel P, Chakarova Christina, Ponting Chris P, Bhattacharya Shomi S, Antinolo Guillermo

Abstract excerpt

Using a positional cloning approach supported by comparative genomics, we have identified a previously unreported gene, EYS, at the RP25 locus on chromosome 6q12 commonly mutated in autosomal recessive retinitis pigmentosa. Spanning over 2 Mb, this is the largest eye-specific gene identified so far. EYS is independently disrupted in four other mammalian lineages, including that of rodents, but is well conserved...

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Share to Chromosomes, Human, Pair 6
Share to Drosophila melanogaster

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Drosophila Proteins

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Share to Genes, Recessive

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Share to Sequence Homology, Amino Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 18836446
DOI: 10.1038/ng.241
PMCID: PMC2719291

Genes

EYS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.PMID 18836446Read ↗

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EYS Mutations and Implementation of Minigene Assay for Variant Classification in EYS-Associated Retinitis Pigmentosa in Northern SwedenSemantic proximity Read ↗

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