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ABSTRACT: Whole exome sequencing for Williams-Beuren syndrome patient

PROVIDER: PRJNA763322 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR15901485_1.fastq.gz	Fastqsanger.gz
	SRR15901485_2.fastq.gz	Fastqsanger.gz

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Cannabinoid signaling modulation through JZL184 restores key phenotypes of a mouse model for Williams- Beuren syndrome

Project description:JZL184 treatment restores neurological and cardiac phenotypes of a mouse model of Williams-Beuren syndrome

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The deletion of the Williams-Beuren Syndrome critical region dysregulate the expression of miR379-410 miRNA members in human isogenic iNeurons

Project description:While psychiatric disorders (e.g., schizophrenia) and autism spectrum disorders (ASD) are typically associated with a deficit in social behavior, the opposite trait of hypersociability is exhibited by individuals with specific neurodevelopmental disorders, e.g., Angelman Syndrome (AS) and Williams-Beuren Syndrome (WBS). We have recently reported that the deletion of the miR379-410 cluster in mice led to hypersocial behavior. To study the roles of this miRNA cluster in the context of WBS, we sent for smallRNA sequencing RNA isolated from isogenic human iPSC-derived neurons harboring a deletion present in Williams-Beuren-Syndrome patients (7q11.23). Specifically, we found that members of the miR379-410 cluster were strikingly overrepresented among downregulated miRNAs in iNeurons harboring a deletion of the WBS critical region. Thus, we obtained the first evidence for the pathophysiological significance of the miR379-410 miRNA cluster in the context of WBS. We conclude that targeting this novel pathway could have therapeutic potential for WBS and other neurodevelopmental conditions characterized by social impairments.

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Project description:We have performed comparative transcriptome profile from lymphoblastoid cell lines from four Williams-Beuren syndrome patients and two patients with partial deletions of the region. The goal was to find deregulated genes specifically in WBS versus atypical deletions, and to determine the biological pathways affected in WBS patients.

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Project description:Mus musculus Wbscr25, Williams Beuren syndrome chromosome region 25 (human) [Source:MGI Symbol;Acc:MGI:1918554], is differentially expressed in 19 experiment(s);

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Project description:Mus musculus Wbscr25, Williams Beuren syndrome chromosome region 25 (human) [Source:MGI Symbol;Acc:MGI:1918554], is expressed in 10 baseline experiment(s);

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