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

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

  • Nat Genet. 2008 Nov;40(11):1285-7. doi: 10.1038/ng.241.
Mai M Abd El-Aziz 1,  Isabel Barragan,  Ciara A O'Driscoll,  Leo Goodstadt,  Elena Prigmore,  Salud Borrego,  Marcela Mena,  Juan I Pieras,  Mohamed F El-Ashry,  Leen Abu Safieh,  Amna Shah,  Michael E Cheetham,  Nigel P Carter,  Christina Chakarova,  Chris P Ponting,  Shomi S Bhattacharya,  Guillermo Antinolo
Affiliations

Affiliation

  • 1 Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, UK.
PMID: 18836446 DOI: 10.1038/ng.241
Abstract

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 from Drosophila to man and is likely to have a role in the modeling of retinal architecture.

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