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Activity-dependent aberrations in gene expression and alternative splicing in a mouse model of Rett syndrome

ABSTRACT: Activity-dependent aberrations in gene expression and alternative splicing in a mouse model of Rett syndrome

PROVIDER: PRJNA451208 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR7050810_1.fastq.gz	Fastqsanger.gz
	SRR7050810_2.fastq.gz	Fastqsanger.gz
	SRR7050820_1.fastq.gz	Fastqsanger.gz
	SRR7050820_2.fastq.gz	Fastqsanger.gz
	SRR7050830_1.fastq.gz	Fastqsanger.gz

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Activity-dependent aberrations in gene expression and alternative splicing in a mouse model of Rett syndrome

Project description:Rett syndrome (RTT) is a severe neurodevelopmental disorder that is caused by mutations in the gene methyl-CpG-binding-protein-2 (MECP2). However, the molecular mechanism by which these mutations mediate the RTT neuropathology remains enigmatic. In this study, we stimulated MeCP2-null cortical neurons (in vitro) and brains (in vivo) of a RTT mouse model to explore the effect of the loss of MeCP2 function on the activity-dependent transcriptomes of the cortex and hippocampus, respectively, using RNA-seq. These analyses revealed that the loss of MeCP2 results in aberrant global pattern of gene expression, characterized predominantly by higher levels of expression of activity-dependent genes, and anomalous alternative splicing events, specifically in response to neuronal activity.

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Activity-dependent aberrations in gene expression and alternative splicing in a mouse model of Rett syndrome.

Project description:Rett syndrome (RTT) is a severe neurodevelopmental disorder that affects about 1 in 10,000 female live births. The underlying cause of RTT is mutations in the X-linked gene, methyl-CpG-binding protein 2 (MECP2); however, the molecular mechanism by which these mutations mediate the RTT neuropathology remains enigmatic. Specifically, although MeCP2 is known to act as a transcriptional repressor, analyses of the RTT brain at steady-state conditions detected numerous differentially expressed genes, while the changes in transcript levels were mostly subtle. Here we reveal an aberrant global pattern of gene expression, characterized predominantly by higher levels of expression of activity-dependent genes, and anomalous alternative splicing events, specifically in response to neuronal activity in a mouse model for RTT. Notably, the specific splicing modalities of intron retention and exon skipping displayed a significant bias toward increased retained introns and skipped exons, respectively, in the RTT brain compared with the WT brain. Furthermore, these aberrations occur in conjunction with higher seizure susceptibility in response to neuronal activity in RTT mice. Our findings advance the concept that normal MeCP2 functioning is required for fine-tuning the robust and immediate changes in gene transcription and for proper regulation of alternative splicing induced in response to neuronal stimulation.

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