About the Authors

Dirk A Kleinjan

Contributed equally to this work with: Dirk A Kleinjan, Ruth M Bancewicz

Affiliation Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom

Ruth M Bancewicz

Contributed equally to this work with: Dirk A Kleinjan, Ruth M Bancewicz

Address Current address: The Faraday Institute for Science and Religion, St Edmund's College, Cambridge, UK

Affiliation Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom

Philippe Gautier

Affiliation Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom

Ralf Dahm

Address Current address: Center for Brain Research, Medical University of Vienna, Vienna, Austria

Affiliation Department of Genetics, Max-Planck Institute for Developmental Biology, Tübingen, Germany

Helia B Schonthaler

Address Current address: Research Institute of Molecular Pathology, Vienna, Austria

Affiliation Department of Genetics, Max-Planck Institute for Developmental Biology, Tübingen, Germany

Giuseppe Damante

Affiliation Department of Science and Biomedical Technology, University of Udine, Udine, Italy

Anne Seawright

Affiliation Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom

Ann M Hever

Affiliation Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom

Patricia L Yeyati

Affiliation Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom

Veronica van Heyningen

To whom correspondence should be addressed. E-mail: v.vanheyningen@hgu.mrc.ac.uk

Affiliation Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom

Pedro Coutinho

Affiliation Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

DAK, RMB, VvH, and PC conceived and designed the experiments and analyzed the data with significant input by PLY. RMB carried out the mating and phenotype selection and confirmations for the mapping. DAK and PC developed the transgenic strategies and constructs and made and analyzed mouse and fish transgenics with help from AS. PC carried out mRNA rescue and morpholino experiments. PG and PC provided bioinformatics contributions. RD supplied the sunrise mutant and worked with HBS on the fish mapping. RD and PLY analyzed the fish eye phenotype. AMH analyzed the pancreas. GD conceived and carried out the mutant protein functional analyses. VvH wrote the paper.