Genome-wide analysis of differential RNA editing in epilepsy
作者： Prashant Kumar Srivastava , Marta Bagnati , Andree Delahaye-Duriez , Jeong-Hun Ko , Maxime Rotival
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摘要: The recoding of genetic information through RNA editing contributes to proteomic diversity, but the extent and significance in disease is poorly understood. In particular, few studies have investigated relationship between at a genome-wide level. Here, we developed framework for detection sites that are differentially edited disease. Using RNA-sequencing data from 100 hippocampi mice with epilepsy (pilocarpine-temporal lobe model) healthy control hippocampi, identified 256 (overlapping 87 genes) were significantly epileptic cases controls. degree differential correlated frequency seizures, set genes RNA-edited case enriched functional terms highly relevant epilepsy, including "neuron projection" "seizures." Genes preferentially association epilepsy. Indeed, found they harbor nonsynonymous de novo mutations patients encephalopathy common susceptibility variants associated generalized These analyses reveal convergence acquired symptomatic those contribute risk Taken together, our results suggest potential role hippocampus occurrence severity seizures.
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