Article
Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells.
Development (Cambridge, England) - 15 Aug 2021
Kinoshita Akira, Ohyama Kaname, Tanimura Susumu, Matsuda Katsuya, Kishino Tatsuya, Negishi Yutaka, Asahina Naoko, Shiraishi Hideaki, Hosoki Kana, Tomiwa Kiyotaka, Ishihara Naoko, Mishima Hiroyuki, Mori Ryoichi, Nakashima Masahiro, Saitoh Shinji, Yoshiura Koh-Ichiro
Abstract excerpt
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, encoding a 218amino acid isoform. This isoform is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.