2019
DOI: 10.1080/15622975.2019.1593501
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Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes

Abstract: Objectives: 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 robust, data-driven insight in molecular disease mechanisms. Methods: Information about changed gene expression was extracted from five previ… Show more

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Cited by 27 publications
(21 citation statements)
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“…The most significant upregulated proteins are associated with GO terms 'cell-cell adhesion' and 'actin cytoskeleton organization'. In previous studies, dysregulation of the actin cytoskeletal organization was observed on transcriptional level, and associated with phenotypic alterations as abnormal dendrite formation and dendritic growth (39)(40)(41)(42). However, these studies reported a transcriptional down regulation of the mentioned pathways, which is in contrast to our results.…”
Section: Protein Expression Changes In Neuronal Progenitor Cells Fromcontrasting
confidence: 99%
“…The most significant upregulated proteins are associated with GO terms 'cell-cell adhesion' and 'actin cytoskeleton organization'. In previous studies, dysregulation of the actin cytoskeletal organization was observed on transcriptional level, and associated with phenotypic alterations as abnormal dendrite formation and dendritic growth (39)(40)(41)(42). However, these studies reported a transcriptional down regulation of the mentioned pathways, which is in contrast to our results.…”
Section: Protein Expression Changes In Neuronal Progenitor Cells Fromcontrasting
confidence: 99%
“…Firstly, we confirmed the mono-allelic expression of MeCP2 in all WT and MT clones. Then, we focused on two potential candidate genes, HSPA2 previously identified to be regulated by MeCP2 in mice and SPATA22 [17,18]. For the HSPA2 gene, we observed and confirmed the bias and mono-allelic gene expression in all WT and MT clones (C allele in all clones), and for the SPATA22 gene, we observed total bias and mono-allelic gene expression in all WT clones and no expression in all MT clones (Fig.S1).…”
Section: 6confirmation Of Rmae Profiles By Sanger Sequencing Of Trsupporting
confidence: 57%
“…Interestingly, CAPG has also been implicated in Rett syndrome, a genetic neurodevelopmental disorder caused by variants in MECP2. In particular, transcriptomic data analysis obtained from human cells with impaired MECP2 function suggests that MECP2 regulates CAPG expression and that CAPG could be involved in altered cytoskeleton organization observed in Rett syndrome [42]. Moreover, Mecp2-null mice showed Capg upregulation that might be involved in the molecular mechanisms leading to altered neuronal architecture observed in Rett syndrome [43].…”
Section: Discussionmentioning
confidence: 99%