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Aberrant phase separation: linking IDR mutations to disease

Rashik Ahmed^1,2 , Julie D. Forman-Kay^1,2,*

¹Program in Molecular Medicine, The Hospital for Sick Children, Toronto, ON, Canada
²Department of Biochemistry, University of Toronto, Toronto, ON, Canada
* Correspondence: Julie D. Forman-Kay(forman@sickkids.ca)

In a recent Nature paper, Mensah et al. demonstrate that a significant subset of frameshift mutations in C-terminal intrinsically disordered regions (IDRs) can alter phase separation propensities, cause protein mislocalization into the nucleolus and disrupt nucleolar function. The work addresses the lack of molecular mechanisms for disease-associated variants in IDRs and provides strong support for the general assessment of how IDR variants cause defects through their impact on biomolecular condensates.

https://doi.org/10.1038/s41422-023-00804-4

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