Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Tsang, B; Pritišanac, I; Scherer, SW; Moses, AM; Forman-Kay, JD.
Phase Separation as a Missing Mechanism for Interpretation of Disease Mutations.
Cell. 2020; 183(7):1742-1756
Doi: 10.1016/j.cell.2020.11.050
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Pritisanac Iva
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- Abstract:
- It is unclear how disease mutations impact intrinsically disordered protein regions (IDRs), which lack a stable folded structure. These mutations, while prevalent in disease, are frequently neglected or annotated as variants of unknown significance. Biomolecular phase separation, a physical process often mediated by IDRs, has increasingly appreciated roles in cellular organization and regulation. We find that autism spectrum disorder (ASD)- and cancer-associated proteins are enriched for predicted phase separation propensities, suggesting that IDR mutations disrupt phase separation in key cellular processes. More generally, we hypothesize that combinations of small-effect IDR mutations perturb phase separation, potentially contributing to "missing heritability" in complex disease susceptibility.
- Find related publications in this database (using NLM MeSH Indexing)
- Chromatin - metabolism
- Disease - genetics
- Humans - administration & dosage
- Intrinsically Disordered Proteins - genetics
- Models, Biological - administration & dosage
- Mutation - genetics
- Proteome - metabolism