Stop-codon readthroug provides novel functions for Syntaxin17

2023 Fiscal Year Final Research Report

• Project/Area Number: 22K15099
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 44010:Cell biology-related
• Research Institution: Tokyo Institute of Technology
• Principal Investigator: KAWAGUCHI Kohei 東京工業大学, 科学技術創成研究院, 特任助教 (10835515)
• Project Period (FY): 2022-04-01 – 2024-03-31
• Keywords: ショウジョウバエ / ストップコドンの読み飛ばし / Stx17

Outline of Final Research Achievements

Using the assay system we developed, we revealed that the elongated form of Stx17 is highly expressed in neural cells. Additionally, we discovered that the elongated form of Stx17 is more frequently localized in the endoplasmic reticulum, Golgi apparatus, and mitochondria compared to the regular form across various tissues. Furthermore, we found that the elongated form of Stx17 binds with different SNARE partners than the regular form. Unfortunately, we could not identify any clear phenotypes from the elongated Stx17-specific knockout strains. Moving forward, we plan to conduct behavioral analyses and other investigations.

Free Research Field

細胞生物学

Academic Significance and Societal Importance of the Research Achievements

遺伝性疾患の数割がナンセンス変異と言われており、ストップコドンの読み飛ばしは多くの疾患の治療戦略として有望である。本研究は、ストップコドンの読み飛ばしが高頻度で起こるショウジョウバエをモデルにすることでメカニズムの一端を明らかにした。この成果は、様々な疾患の治療戦略を生み出す重要な基盤となりうるものである。