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

Abstract

Shomi Bhattacharya and colleagues report the identification of six independent mutations in an ortholog of Drosophila eys in families with autosomal recessive retinitis pigmentosa from diverse ancestral origins. A phylogenetic analysis of this gene, which spans more than 2 Mb, suggests that it has a role in the modeling of retinal architecture. 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.