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Photoreceptors in evolution and disease

Nature Genetics volume 40, pages 1275–1276 (2008)Cite this article

A new study identifies the gene that, when mutated, causes autosomal recessive retinitis pigmentosa 25 (arRP25). The RP25 gene encodes an ortholog of Drosophila spacemaker (eyes shut), thus emphasizing common biological functions between Drosophila sensory systems and the human eye.

There are 26 associated arRP loci and for 21 the causative mutation has been identified; most of these mutations are responsible for a small percentage of cases (1–5%). In the course of recent studies, it became apparent that many different lineages from various geographical regions were all linked to the RP25 locus4,5,6,7, which may underlie a significant proportion of arRP. The availability of multiple pedigrees permitted a narrowing of the genetic interval, followed by the identification of a 100-kb deletion in all affected members of one family8. Subsequent characterization of the genomic interval revealed a single gene dispersed throughout approximately 2 Mb of DNA consisting of 43 exons3. The final characterization of the RP25 locus identified 30 exons belonging to 9 annotated genes, 13 previously unreported exons and approximately 1.2 kb of sequence that had not been incorporated into the final human genome assembly. Furthermore, deletions and nonsense mutations within the transcript were found in all affected families. The sheer size of the locus (a large target for mutagenesis) would account for the diversity of ancestry groups affected by RP25.

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Figure 1: A comparison of Drosophila and human retinas.

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Authors and Affiliations

  1. Boaz Cook is in the Department of Cell Biology, The Scripps Research Institute, La Jolla, California 92037, USA. bcook@scripps.edu,

    Boaz Cook

  2. Andrew C. Zelhof is in the Department of Biology, Indiana University, Bloomington, Indiana 47405, USA. azelhof@indiana.edu,

    Andrew C Zelhof

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  1. Boaz Cook
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Cook, B., Zelhof, A. Photoreceptors in evolution and disease. Nat Genet 40, 1275–1276 (2008). https://doi.org/10.1038/ng1108-1275

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