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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Acknowledgements
We would like to thank the families who participated in the study. This study was funded by Fondo de Investigación Sanitaria (PI050857), Spain; Consejería de Salud (PI-0334/2007), Junta de Andalucía, Spain; British Retinitis Pigmentosa Society (grant ref. GR556); Foresight, Dubai; Foundation Fighting Blindness (USA); National Institute of Health Research Biomedical Research Centre for Ophthalmology, The Special Trustees of Moorfields Eye Hospital London; the UK Medical Research Council and EU-Neurotrain (grant ref. MEST-CT-2005-020235); EU-GENORET (grant ref. LSHG-CT-2005-512036). The El Centro de Investigación Biomédica en Red de Enfermedades Raras is an initiative of the Instituto de Salud Carlos III. N.P.C. and E.P. were supported by the Wellcome Trust. We would like also to thank R. Molday (University of British Columbia, Vancouver) for the gift of 1D4 antibody and G. Jeffery for his advice with immunohistochemistry.
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S.S.B. and G.A. designed the study; M.M.A., I.B., C.A.O., J.I.P., M.F.E. and L.A.S. performed the mutation screening; I.B., M.M. and S.B. performed the MLPA experiments; C.A.O., A.S., C.C. and M.E.C. performed the immunohistochemistry; L.G. and C.P.P. carried out the bioinformatics analysis and the evolutionary work; E.P. and N.P.C. carried out the array-CGH analysis; M.M.A. and S.S.B. were mainly responsible for the writing of the manuscript and prepared the tables, figures and supplementary material, with input from all coauthors.
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Abd El-Aziz, M., Barragan, I., O'Driscoll, C. et al. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat Genet 40, 1285–1287 (2008). https://doi.org/10.1038/ng.241
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DOI: https://doi.org/10.1038/ng.241
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