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

Mai M Abd El-Aziz, 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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1285-7
Number of pages3
JournalNature Genetics
Volume40
Issue number11
DOIs
Publication statusPublished - Nov 2008

Keywords

  • Animals
  • Cell Line
  • Chromosomes, Human, Pair 6
  • Drosophila Proteins
  • Drosophila melanogaster
  • Eye Proteins
  • Gene Expression Profiling
  • Gene Expression Regulation
  • Genes, Recessive
  • Humans
  • Mutation
  • Protein Structure, Tertiary
  • Protein Transport
  • Retinitis Pigmentosa
  • Sequence Homology, Amino Acid

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