Abstract

Rett syndrome (RTT) is a rare disorder causing severe intellectual and physical disability. The cause is a mutation in the gene coding for the methyl-CpG binding protein 2 (MECP2), a multifunctional regulator protein. Purpose of the study was integration and investigation of multiple gene expression profiles in human cells with impaired MECP2 gene to obtain a data-driven insight in downstream effects. Information about changed gene expression was extracted from five previously published studies. We identified a set of genes which are significantly changed not in all but several transcriptomics datasets and were not mentioned in the context of RTT before. Using overrepresentation analysis of molecular pathways and gene ontology we found that these genes are involved in several processes and molecular pathways known to be affected in RTT. Integrating transcription factors we identified a possible link how MECP2 regulates cytoskeleton organization via MEF2C and CAPG. Integrative analysis of omics data and prior knowledge databases is a powerful approach to identify links between mutation and phenotype especially in rare disease research where little data is available.\n\nAbbreviationsRett syndrome (RTT), embryonic stem cells (ESCs), induced pluripotent stem cells (iPSCs), fold change (FC), Gene Ontology (GO), EIF (eukaryotic initiation of transcription factor)\n\nFor genes the symbols according to the HGNC nomenclature were used.