Article
Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia.
Nature communications - 28 Sept 2021
Sekulovski Samoil, Devant Pascal, Panizza Silvia, Gogakos Tasos, Pitiriciu Anda, Heitmeier Katharina, Ramsay Ewan Phillip, Barth Marie, Schmidt Carla, Tuschl Thomas, Baas Frank, Weitzer Stefan, Martinez Javier, Trowitzsch Simon
Abstract excerpt
Introns of human transfer RNA precursors (pre-tRNAs) are excised by the tRNA splicing endonuclease TSEN in complex with the RNA kinase CLP1. Mutations in TSEN/CLP1 occur in patients with pontocerebellar hypoplasia (PCH), however, their role in the disease is unclear. Here, we show that intron excision is catalyzed by tetrameric TSEN assembled from inactive heterodimers independently of CLP1. Splice site...
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