Analysis of signal pathways from primary cilia that control cystic kidney disease

2020 Fiscal Year Final Research Report

• Project/Area Number: 18K08215
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 53040:Nephrology-related
• Research Institution: Kyoto Prefectural University of Medicine
• Principal Investigator: Nakajima Yoshiro 京都府立医科大学, 医学(系)研究科(研究院), 助教 (30455430)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Keywords: ネフロン癆 / 一次繊毛 / NPHP / ANKS6(NPHP16) / BICC1 / ANKS3 / ルートレット

Outline of Final Research Achievements

The nephronophthisis protein (NPHP) is mainly localized to the primary cilia, which are intracellular organelles. Signals transmitted by primary cilia are thought to regulate cell proliferation, cell polarity, cell differentiation, and so on. In this study, we analyzed a molecular complex thought to be involved in signal transduction from cilia. As a result, it was revealed that ANKS6, which is NPHP16, is accumulated in the ciliary rootlet in addition to the primary cilia INV compartment. Furthermore, BICC1 and ANKS3, which are cystic kidney-related proteins, were also confirmed to be localized in the rootlet, suggesting that they form a large complex with ANKS6 and are involved in the maintenance of renal morphology.

Free Research Field

腎臓内科学

Academic Significance and Societal Importance of the Research Achievements

嚢胞腎関連遺伝子であるANKS6, BICC1, ANKS3の局在、結合能などを詳細に解析した結果、BICC1-ANKS3-ANKS6は一次繊毛ルートレットに局在し、巨大な複合体を形成していることを明らかにした。その結果、これまで数多く報告されてきたが未解明な点が多かった嚢胞腎関連遺伝子間の相互作用の理解に貢献できたと考える。