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. 2020 Oct 26;13:567084. doi: 10.3389/fnmol.2020.567084

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Copyright © 2020 Eiber, Fröb, Schowalter, Thiel, Clemen, Schröder and Hashemolhosseini.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Gene Set Enrichment Analysis of Transcriptome Data discloses a dysregulation of synaptic gene expression. RNA-Seq of five wild-types and five desmin knock-out mouse tissue specimens derived from gastrocnemius/plantaris muscles revealed several differentially regulated genes. (A,B) GO Analysis was performed with genes that were up- or downregulated at least 2-fold in desmin knock-out mice (up log2fc ≥1, down log2fc ≤−1). (C) The table depicts a set of NMJ-specific genes with their RNA-Seq expression results in the desmin knock-out genotype as compared to wild-type controls [log2fc, p-value: p (*P ≤ 0.05; **P ≤ 0.01; ***P ≤ 0.001)]. (D) Gene set enrichment blot from GSEA analysis of RNA-Seq data with the NMJ gene set. Normalized enrichment score (NES) and p-value are listed at the bottom of the blot.