Genetic analysis of slc25a25, cingulin and myosin 1b in the zebrafish

Medientyp: E-Book

Titel: Genetic analysis of slc25a25, cingulin and myosin 1b in the zebrafish

Beteiligte: Seger, Claudia [Verfasser]; Köttgen, Michael [Akademischer Betreuer]; Köttgen, Michael [Sonstige]; Klugbauer, Axel [Sonstige]

Körperschaft: Universitätsklinikum Freiburg ; Albert-Ludwigs-Universität Freiburg, Medizinische Fakultät ; Klinik für Innere Medizin IV

Erschienen: Freiburg: Universität, 2023

Umfang: Online-Ressource

Sprache: Englisch

DOI: 10.6094/UNIFR/235932

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Schlagwörter: Zebrabärbling ; (local)doctoralThesis

Entstehung:

Hochschulschrift: Dissertation, Universität Freiburg, 2023

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Beschreibung: Abstract: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inheritable Kidney Disease and one of the most widespread potentially lethal monogenetic diseases. ADPKD is defined by the cystic transformation of the kidney that leads to a progressive loss of kidney function. Mutations in the genes PKD1 and PKD2 were identified as the causes for ADPKD. PKD1 codes for the receptor protein Polycystin-1 (PC-1), PKD2 for the ion channel transient receptor potential polycystin 2 (TRPP2). PC-1 and TRPP2 form together a receptor-ion channel complex, whose physiological function is not yet known. To further our understanding of the physiological function, it is essential to identify and analyse the function proteins in the polycystin signalling cascade.<br>The goal of this doctorate thesis was the validation and functional characterisation of possible functional and physical interaction partners of pkd2 in the zebrafish Danio rerio. Slc25a25, cingulin and myosin 1b were investigated using genetic, cell biological and biochemical methods. It could be demonstrated that TRPP2 ion channel activity controls left-right asymmetry of the zebrafish body plan with the help of interacting components such as the downstream Ca2+- regulated mitochondrial carrier SLC25A25B, the tight junction protein CINGULIN and the motor protein MYOSIN 1B. These three genes are involved in the TRPP2 signalling cascade and upstream of the nodal/southpaw signalling cascade which is responsible for left-right asymmetry. The validation and analysis of the function of these new components of the signalling pathway broadens the understanding of the physiological and pathophysiological function of TRPP2

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