Article
Dosage sensitivity to Pumilio1 variants in the mouse brain reflects distinct molecular mechanisms.
The EMBO journal - 1 Jun 2023
Botta Salvatore, de Prisco Nicola, Chemiakine Alexei, Brandt Vicky, Cabaj Maximilian, Patel Purvi, Doron-Mandel Ella, Treadway Colton J, Jovanovic Marko, Brown Nicholas G, Soni Rajesh K, Gennarino Vincenzo A
Abstract excerpt
Different mutations in the RNA-binding protein Pumilio1 (PUM1) cause divergent phenotypes whose severity tracks with dosage: a mutation that reduces PUM1 levels by 25% causes late-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures. Yet PUM1 targets are derepressed to equal degrees in both cases, and the more severe mutation does not hinder PUM1's RNA-binding ability. We therefore...
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