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- W2980457218 abstract "Liquid-liquid phase separation (LLPS) represents an emergent property of cells to compartmentalize biochemical processes. Intrinsically disordered regions (IDRs) represent a keystone feature of proteins implicated in promoting LLPS. Even though these regions do not conform to a single three-dimensional structure, they are important for regulating cellular signaling, transcription, translation, and the cell cycle. Moreover, genetic variation in these regions has been associated with multiple forms of dementia, including but not limited to Alzheimer's disease. While IDRs tend to evolve rapidly compared to more ordered regions of proteins, there is evidence that there is purifying selection within IDRs themselves, but it is unclear how this plays out across human populations. Before evaluating how genetic variation in these regions is unique to AD, we investigated how single nucleotide variants differ across populations in the 1000 genomes project as a proof of concept study. We designed a workflow to identify regions in the genome that code for IDRs. We then used BioBin, a program for rare variant binning, to count low-frequency and rare variants. Using this strategy, we developed a method to investigate the frequency and relative variation of rare and low-frequency variants in IDRs and ordered regions of proteins. This approach was applied across individuals from diverse ancestral backgrounds and can be applied to AD cohorts in the future. This study presents a new strategy for studying the underpinnings of AD and other forms of dementia through characterizing rare variants in disordered regions compared to ordered regions of proteins." @default.
- W2980457218 created "2019-10-25" @default.
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- W2980457218 date "2019-07-01" @default.
- W2980457218 modified "2023-09-28" @default.
- W2980457218 title "P4-486: EXPLORING RARE VARIATIONS THAT IMPACT REGIONS OF PROTEINS ASSOCIATED WITH ALZHEIMER'S DISEASE" @default.
- W2980457218 doi "https://doi.org/10.1016/j.jalz.2019.08.032" @default.
- W2980457218 hasPublicationYear "2019" @default.
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