Akira Kinoshita, Kaname Ohyama, Susumu Tanimura, Katsuya Matsuda, Tatsuya Kishino, Yutaka Negishi, Naoko Asahina, Hideaki Shiraishi, Kana Hosoki, Kiyotaka Tomiwa, Naoko Ishihara, Hiroyuki Mishima, Ryoichi Mori, Masahiro Nakashima, Shinji Saitoh, Koh-Ichiro Yoshiura
Mutations in ITPR1 cause ataxia and aniridia in individuals with Gillespie syndrome (GLSP). However, the pathogenic mechanisms underlying aniridia remain unclear. We identified a de novo GLSP mutation hotspot in the 3'-region of ITPR1 in five individuals with GLSP. Furthermore, RNA-sequencing and immunoblotting revealed an eye-specific transcript of Itpr1 (218-aa isoform), encoding 218 amino acids (aa). This isoform is localized not only in the endoplasmic reticulum, but also in the nuclear and cytoplasmic membranes...
August 2, 2021: Development