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Tulp3 deficiency results in ciliopathy phenotypes during zebrafish embryogenesis
Daniel Epting1, John Devane1, Ralf Mertes2,3,4
1Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, Freiburg, Germany.
Scientific Reports
|September 12, 2025
Summary
Tubby-like protein 3 (TULP3) deficiency causes ciliopathy-associated defects during zebrafish development. Loss of TULP3 impairs cilia formation and function, leading to organ damage and highlighting its role in tissue homeostasis.
Area of Science:
- Cell Biology
- Developmental Biology
- Genetics
Background:
- Ciliopathies are diverse genetic disorders arising from defects in cilia structure or function.
- Primary cilia are crucial for developmental signaling and tissue maintenance.
- Intraflagellar transport (IFT) is essential for cilia assembly, maintenance, and signaling.
Purpose of the Study:
- To investigate the functional consequences of Tubby-like protein 3 (TULP3) deficiency during zebrafish embryogenesis.
- To analyze the role of TULP3 in cilia formation, function, and associated signaling pathways.
- To understand the spectrum of TULP3-related phenotypes in zebrafish development and adulthood.
Main Methods:
- Zebrafish Tulp3 knockout model generation and analysis.
- Phenotypic characterization of Tulp3 deficient embryos and adult zebrafish.
- Assessment of cilia number, length, and associated signaling pathways (Wnt, Jak/Stat).
- Analysis of gene expression related to fibrosis and specific signaling molecules (Urp).
Main Results:
- Tulp3 deficiency in zebrafish caused ciliopathy phenotypes, including pronephric cysts, body curvature, and altered left-right asymmetry.
- Reduced cilia number and length were observed in Tulp3 deficient embryos.
- Loss of Tulp3 led to upregulation of profibrotic Wnt and Jak/Stat signaling components and genes associated with liver fibrosis.
- Tulp3 deficiency resulted in reduced urp1 expression and scoliosis in adult zebrafish.
Conclusions:
- TULP3 is essential for proper cilia formation and function during zebrafish embryogenesis.
- TULP3 deficiency contributes to ciliopathy phenotypes and organ damage, including liver fibrosis.
- This study provides insights into the role of TULP3 in maintaining tissue architecture and highlights its relevance to human ciliopathies.
