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Abstract: FR-PO276

Cilk1 Deficiency Induces Cyst Formation and Abnormal Ciliary Trafficking via Klc3

Session Information

Category: Genetic Diseases of the Kidneys

  • 1101 Genetic Diseases of the Kidneys: Cystic


  • Ko, Je Yeong, Sookmyung Women's University, Yongsan-gu, Seoul , Korea (the Republic of)
  • Rah, Gyuyeong, Sookmyung Women's University, Yongsan-gu, Seoul , Korea (the Republic of)
  • Park, Jong Hoon, Sookmyung Women's University, Yongsan-gu, Seoul , Korea (the Republic of)

Ciliogenesis-associated kinase 1 (CILK1), also known as intestinal cell kinase (ICK), is localized in the basal bodies of cilia and regulates ciliary transport. Mutations in the CILK1 gene induces various ciliopathies, including endocrine-cerebro-osteodysplasia syndrome and juvenile myoclonic epilepsy; however, the mechanism underlying the ciliary defect in the CILK1-deficient kidney has not been elucidated.


We generated mice with specific deletion of Cilk1 in renal collecting duct and performed yeast-two-hybrid assay to identify a novel ciliary regulator in Cilk1-deficient model.


CILK1 deficiency results in polycystic kidney disease (PKD) and abnormal ciliary trafficking in cyst lining cells. We identified a novel ciliary regulator, kinesin light chain 3 (KLC3), which promotes ciliary trafficking and cyst progression in CILK1 deficient PKD. KLC3 overexpression induced ciliary recruitment of IFT-B and EGFR, which contributed to the ciliary defect involved in cyst progression. Reduction in KLC3 restored abnormal ciliary trafficking and inhibited cyst progression caused by CILK1 deficiency, indicating that KLC3 is a ciliary regulator related to cyst progression in CILK1 deficient PKD.


We found that CILK1 deficiency leads to PKD accompanied by abnormal ciliary trafficking via KLC3 overexpression. These results provide new insight into the pathogensis of CILK1 deficient PKD model.


  • Government Support – Non-U.S.