Brief Communication abstract
Nature Genetics 40, 1285 - 1287 (2008)
Published online: 5 October 2008 | doi:10.1038/ng.241
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa
Mai M Abd El-Aziz1,8, Isabel Barragan2,3,8, Ciara A O'Driscoll1,8, Leo Goodstadt4, Elena Prigmore5, Salud Borrego2,3, Marcela Mena2,3, Juan I Pieras2,3, Mohamed F El-Ashry1, Leen Abu Safieh1, Amna Shah1, Michael E Cheetham6, Nigel P Carter5, Christina Chakarova1, Chris P Ponting4, Shomi S Bhattacharya1,7 & Guillermo Antinolo2,3
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.
- Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, UK.
- Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Hospitales Universitarios Virgen del Rocio, Avenida Manuel Siurot s/n, 41013 Seville, Spain.
- CIBER de Enfermedades Raras (CIBERER), Seville, Spain.
- Medical Research Council Functional Genomics Unit, University of Oxford, Department of Physiology, Anatomy and Genetics, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK.
- The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
- Division of Molecular and Cellular Neuroscience, Institute of Ophthalmology, London EC1V 9EL, UK.
- Institut de la Vision, INSERM U592, Universite Pierre et Marie Curie-Paris 6, UMRS 592, Paris, France.
- These authors contributed equally to this work.
Correspondence to: Shomi S Bhattacharya1,7 e-mail: smbcssb@ucl.ac.uk
Correspondence to: Guillermo Antinolo2,3 e-mail: guillermo.antinolo.sspa@juntadeandalucia.es
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