학술논문
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa
Document Type
article
Author
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
Source
Communications Biology, Vol 4, Iss 1, Pp 1-12 (2021)
Subject
Language
English
ISSN
2399-3642
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.