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Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug

ABSTRACT: Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug

PROVIDER: PRJNA529019 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR8784940.fastq.gz	Fastqsanger.gz
	SRR8785210_1.fastq.gz	Fastqsanger.gz
	SRR8785210_2.fastq.gz	Fastqsanger.gz
	SRR8785220.fastq.gz	Fastqsanger.gz
	SRR8784941.fastq.gz	Fastqsanger.gz

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Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [human]

Project description:Williams syndrome (WS), caused by a heterozygous microdeletion in 7q11.23, is a neurodevelopmental disorder characterized by hypersociability and neurocognitive abnormalities. Of the deleted genes, general transcription factor II-i (Gtf2i) has been linked to hypersociability in WS, though the underlying mechanisms are poorly understood. We show that selective deletion of Gtf2i in forebrain excitatory neurons caused neuroanatomical defects, fine motor deficits, increased sociability and anxiety. Unexpectedly, 70% of the genes with significantly decreased mRNA levels in the mutant mouse cortex are involved in myelination, and mutant mice had reduced mature oligodendrocyte cell numbers, reduced myelin thickness and impaired axonal conductivity. Restoring myelination properties with clemastine or increasing axonal conductivity rescued the behavioural deficits. Frontal cortex from WS patients similarly showed reduced myelin thickness, mature oligodendrocyte cell numbers and mRNA levels of myelination-related genes. Our study provides molecular and cellular evidence for myelination deficits in WS linked to neuronal deletion of Gtf2i.

2019-03-26 | GSE128840 | GEO

Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [mouse P30]

2019-03-26 | GSE128839 | GEO

Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [mouse P1]

2019-03-26 | GSE128838 | GEO

Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [human]

Project description:Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [human]

| PRJNA529023 | ENA

Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [mouse P1]

Project description:Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [mouse P1]

| PRJNA529020 | ENA

Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [mouse P30]

Project description:Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [mouse P30]

| PRJNA529021 | ENA

Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug

Project description:This SuperSeries is composed of the SubSeries listed below.

2019-03-26 | GSE128841 | GEO

Gtf2i-encoded transcription factor Tfii-i regulates myelination

Project description:The transcriptional regulatory network governing the differentiation and functionality of oligodendrocytes is essential for the formation and maintenance of the myelin sheath, and hence for the proper function of the nervous system. Perturbations in the intricate interplay of transcriptional effectors within this network can lead to a variety of nervous system pathologies. In this study, we have identified Gtf2i-encoded general transcription factor II-I (Tfii-i) as a regulator of key myelination-related genes. To assess how Tfii-i absence from oligodendrocytes alters myelin properties on a molecular level, we compared the biochemically-enriched myelin fraction purified from brains of Gtf2i-KO and control mice by label-free quantitative mass spectrometry using the MSE-type data-independent acquisition (DIA) mode. We found an increased protein abundance of several key myelin proteins such as Mbp and Mog, while the abundance of Gpr37 was decreased, overall indicating a molecular hypermyelination phenotype in the absence of Tfii-i. These results, together with findings from - among others - structural, electrophysiological and behavioral approaches, show that Gtf2i deletion from myelinating glia cells in mice led to functional alterations in CNS myelin, which resulted in faster axonal conduction and improved motor coordination.

2025-07-14 | PXD054341 | Pride

Gtf2i-encoded transcription factor Tfii-i regulates myelination via Sox10 and Mbp regulatory elements

Project description:The transcriptional regulatory network governing the differentiation and functionality of oligodendrocytes is essential for the formation and maintenance of the myelin sheath, and hence for the proper function of the nervous system. Perturbations in the intricate interplay of transcriptional effectors within this network can lead to a variety of nervous system pathologies. In this study, we have identified Gtf2i-encoded general transcription factor II-I (Tfii-i), as a regulator of key myelination-related genes. Gtf2i deletion from myelinating glia cells in mice led to functional alterations in CNS myelin, including elevated mRNA and protein expression levels of the central myelin component Mbp, enhanced connectivity properties, and thicker myelin wrapping axons with increased diameters. These changes resulted in faster axonal conduction across the corpus callosum, and improved motor coordination. In the PNS, Gtf2i deletion from Schwann cells led to hypermyelination of the tibial branch of the sciatic nerve. Furthermore, we show that, in myelinating oligodendrocytes, Tfii-i directly binds to regulatory elements of Sox10 and Mbp. These findings add to our understanding of myelination regulation and specifically elucidate a cell-autonomous mechanism for Tfii-i in myelinating glia transcriptional network.

2025-07-10 | GSE285541 | GEO

Peroxisomal integrity in myeloid cells is required for myelin debris clearance and remyelination

Project description:During demyelination myeloid cells remove myelin debris and promote remyelination. Dysfunctional myeloid cells are associated with peroxisomal leukodystrophies, yet the role of peroxisomes in myeloid cells responding to demyelination remains unknown. The impact of dysfunctional peroxisomes in demyelination-responding myeloid cells was interrogated in Abcd1 and Pex5 knockout mice using the cuprizone model for myelin damage. Abcd1 loss did not affect the demyelination response in myeloid cells, however, Pex5 deficiency impaired remyelination and significantly undermined myelin debris clearance. Molecular analysis in Pex5 depleted macrophages revealed repressed APOE activity and attenuated expression of the sterol exporter pathway integral to myelin debris metabolism, which was associated with an aggravated foamy macrophage phenotype in myelin engulfing myeloid cells. In summary, we report a critical contribution of peroxisomes to myelin debris clearance, myelin lipid processing, and pro-remyelinating properties in myeloid cells.

2025-11-13 | GSE272138 | GEO

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