Communications Biology (Jan 2021)
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa
- Koji M. Nishiguchi,
- Fuyuki Miya,
- Yuka Mori,
- Kosuke Fujita,
- Masato Akiyama,
- Takashi Kamatani,
- Yoshito Koyanagi,
- Kota Sato,
- Toru Takigawa,
- Shinji Ueno,
- Misato Tsugita,
- Hiroshi Kunikata,
- Katarina Cisarova,
- Jo Nishino,
- Akira Murakami,
- Toshiaki Abe,
- Yukihide Momozawa,
- Hiroko Terasaki,
- Yuko Wada,
- Koh-Hei Sonoda,
- Carlo Rivolta,
- Tatsuhiko Tsunoda,
- Motokazu Tsujikawa,
- Yasuhiro Ikeda,
- Toru Nakazawa
Affiliations
- Koji M. Nishiguchi
- Department of Ophthalmology, Tohoku University Graduate School of Medicine
- Fuyuki Miya
- Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University
- Yuka Mori
- Department of Biomedical Informatics, Osaka University Graduate School of Medicine
- Kosuke Fujita
- Department of Ophthalmology, Nagoya University Graduate School of Medicine
- Masato Akiyama
- Laboratory for Statistical Analysis, Center for Integrative Medical Sciences, RIKEN
- Takashi Kamatani
- Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University
- Yoshito Koyanagi
- Laboratory for Statistical Analysis, Center for Integrative Medical Sciences, RIKEN
- Kota Sato
- Department of Ophthalmology, Tohoku University Graduate School of Medicine
- Toru Takigawa
- Department of Biomedical Informatics, Osaka University Graduate School of Medicine
- Shinji Ueno
- Department of Ophthalmology, Nagoya University Graduate School of Medicine
- Misato Tsugita
- Department of Ophthalmology, Tohoku University Graduate School of Medicine
- Hiroshi Kunikata
- Department of Ophthalmology, Tohoku University Graduate School of Medicine
- Katarina Cisarova
- Unit of Medical Genetics, Department of Computational Biology, University of Lausanne
- Jo Nishino
- Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University
- Akira Murakami
- Department of Ophthalmology, Juntendo University Graduate School of Medicine
- Toshiaki Abe
- Division of Clinical Cell Therapy, United Centers for Advanced Research and Translational Medicine (ART), Tohoku University Graduate School of Medicine
- Yukihide Momozawa
- Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences,
- Hiroko Terasaki
- Department of Ophthalmology, Nagoya University Graduate School of Medicine
- Yuko Wada
- Yuko Wada Eye Clinic
- Koh-Hei Sonoda
- Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University
- Carlo Rivolta
- Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB)
- Tatsuhiko Tsunoda
- Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University
- Motokazu Tsujikawa
- Department of Biomedical Informatics, Osaka University Graduate School of Medicine
- Yasuhiro Ikeda
- Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University
- Toru Nakazawa
- Department of Ophthalmology, Tohoku University Graduate School of Medicine
- DOI
- https://doi.org/10.1038/s42003-021-01662-9
- Journal volume & issue
-
Vol. 4,
no. 1
pp. 1 – 12
Abstract
Koji Nishiguchi et al. identify three genetic variants within the EYS gene that are associated with retinitis pigmentosa using a genome-wide association study. They demonstrate that one of these variants (G843E) causes retinal dysfunction in zebrafish, suggesting a causal role for EYS in retinitis pigmentosa.
