Investigating alternative splicing and isoform functions in ciliopathy- and renal disease-genes (P04)

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P4 studies the role of splicing defects and isoform functions in renal ciliopathies. Based on the newly identified function of the alternative splicing regulator Tra2b in cilia formation, P4 will analyze the role of Tra2b-regulated alternatively spliced transcripts in ciliogenesis and kidney cells. Specific Tra2b-regulated isoforms in renal disease associated ciliary genes will be functionally studied in Xenopus embryos and mammalian tissue culture. This will establish the first alternative splicing regulator of ciliogenesis and new CRISPR-based methods in the Xenopus model, which will help studies of ciliopathies (e.g., P3) and of variants with splice defects identified in P1, P2, and P15.