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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 publication




Journal article


Nat Genet

Publication Date





1285 - 1287


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