Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers.

Lin, Yi; Mori, Eiichiro; Kato, Masato; Xiang, Siheng; Wu, Leeju; Kwon, Ilmin; McKnight, Steven L · Cell · 2016

basic_science · Level V

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Abstract

Two complementary approaches were used in search of the intracellular targets of the toxic PR poly-dipeptide encoded by the repeat sequences expanded in the C9orf72 form of amyotrophic lateral sclerosis. The top categories of PR<sub>n</sub>-bound proteins include constituents of non-membrane invested cellular organelles and intermediate filaments. PR<sub>n</sub> targets are enriched for the inclusion of low complexity (LC) sequences. Evidence is presented indicating that LC sequences represent the direct target of PR<sub>n</sub> binding and that interaction between the PR<sub>n</sub> poly-dipeptide and LC domains is polymer-dependent. These studies indicate that PR<sub>n</sub>-mediated toxicity may result from broad impediments to the dynamics of cell structure and information flow from gene to message to protein.

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