Dataset Information

A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndrome

ABSTRACT: Analysis of the phosphorylation state of a mis-sense variant in MIDEAS (Tyr654Ser). The substitution from YTP to STP generates a CDK kinase site that is phosphorylated in a human cell line.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Cell Culture, Kidney Cell

DISEASE(S): Neurodevelopmental Abnormality

SUBMITTER: Rebekah Jukes-Jones

LAB HEAD: John Schwabe

PROVIDER: PXD067661 | Pride | 2025-10-13

REPOSITORIES: Pride

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Dataset's files

Source:

			Action	DRS
	LF_Flavo_MIDEAS_070825001.mgf	Mgf
	LF_Flavo_MIDEAS_070825001.raw	Raw
	LF_Flavo_MIDEAS_070825001_peptides_1_1_0.mzid	Mzid
	LF_Flavo_MIDEAS_070825003.mgf	Mgf
	LF_Flavo_MIDEAS_070825003.raw	Raw

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Project description:The outcome of infections with Toxoplasma gondii in humans is dependent in part on the genetic makeup of the infecting organism. Recent studies have indicated that most infecting Toxoplasma organisms fall into 1 of 3 canonical lineages. Previous studies have investigated the effects of Toxoplasma on its host cell transcriptome. Little is known, however, about the effects of three canonical lineages on brain cells, the principal site of parasite lifelong persistence. In this study, we examined the transcriptional profile of human neuroepithelioma cells in response to T. gondii infection using microarray analysis to characterize the strain-specific host cell response to 3 canonical T. gondii strains. We found that the extent of the expression changes varied considerably among the three strains. Neuroepithelial cells infected with type I exhibited the most differential gene expression, whereas type II infected cells had a substantially smaller number of genes which were differentially expressed. Cells infected with type III exhibited intermediate effects on gene expression. The three strains also differed in the individual genes and gene pathways which were altered following cellular infection. For example, gene ontology (GO) analysis indicated that type I infection largely affects genes related to central nervous system while type III infection largely alters genes which affect nucleotide metabolism; type II infection does not alter expression of a clearly defined set of genes. Moreover, Ingenuity pathway analysis (IPA) revealed the sophistication of different strain in its interactions with the host. These differences may explain some of the variation in the neurobiological effects of different strains of Toxoplasma on infected individuals. We infected SK-N-MC cells with 3 canonical Toxoplasma strains and assessed their gene expression in RNA at 20 hours post-infection using Affymetrix GeneChip. Infections and controls (no tachyzoites) were performed in duplicate and experiments for each strain were carried out on three separate occasions in order to include both technical replicates and biological replicates.

Dataset Information

A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndrome

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