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

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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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Figure 1: RP25 gene structure and domain architecture.
Figure 2: Expression pattern and immunolocalization of spam.

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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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Author notes

  1. Mai M Abd El-Aziz, Isabel Barragan and Ciara A O'Driscoll: These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Molecular Genetics, Institute of Ophthalmology, London, EC1V 9EL, UK

    Mai M Abd El-Aziz, Ciara A O'Driscoll, Mohamed F El-Ashry, Leen Abu Safieh, Amna Shah, Christina Chakarova & Shomi S Bhattacharya

  2. Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Hospitales Universitarios Virgen del Rocio, Avenida Manuel Siurot s/n, Seville, 41013, Spain

    Isabel Barragan, Salud Borrego, Marcela Mena, Juan I Pieras & Guillermo Antinolo

  3. CIBER de Enfermedades Raras (CIBERER), Seville, Spain

    Isabel Barragan, Salud Borrego, Marcela Mena, Juan I Pieras & Guillermo Antinolo

  4. Department of Physiology, Medical Research Council Functional Genomics Unit, University of Oxford, Anatomy and Genetics, Le Gros Clark Building, South Parks Road, Oxford, OX1 3QX, UK

    Leo Goodstadt & Chris P Ponting

  5. The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK

    Elena Prigmore & Nigel P Carter

  6. Division of Molecular and Cellular Neuroscience, Institute of Ophthalmology, London, EC1V 9EL, UK

    Michael E Cheetham

  7. Institut de la Vision, INSERM U592, Universite Pierre et Marie Curie-Paris 6, Paris, UMRS 592, France

    Shomi S Bhattacharya

Authors
  1. Mai M Abd El-Aziz
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  2. Isabel Barragan
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  3. Ciara A O'Driscoll
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  4. Leo Goodstadt
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  5. Elena Prigmore
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  6. Salud Borrego
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  7. Marcela Mena
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  8. Juan I Pieras
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  9. Mohamed F El-Ashry
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  10. Leen Abu Safieh
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  11. Amna Shah
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  12. Michael E Cheetham
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  13. Nigel P Carter
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  14. Christina Chakarova
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  15. Chris P Ponting
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  16. Shomi S Bhattacharya
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  17. Guillermo Antinolo
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Contributions

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.

Corresponding authors

Correspondence to Shomi S Bhattacharya or Guillermo Antinolo.

Supplementary information

Supplementary Text and Figures

Supplementary Methods, Supplementary Note, Supplementary Figures 1–4, Supplementary Table 1 (PDF 2022 kb)

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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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