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A Convergent Mechanism of High Risk Factors ADNP and POGZ in Neurodevelopmental Disorders

ABSTRACT: A Convergent Mechanism of High Risk Factors ADNP and POGZ in Neurodevelopmental Disorders

PROVIDER: PRJNA780544 | ENA |

REPOSITORIES: ENA

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A Convergent Mechanism of High Risk Factors ADNP and POGZ in Neurodevelopmental Disorders

Project description:We performed RNAseq experiments to examine genome-wide transcriptional changes in PFC of shRNA-Adnp and shRNA-Pogz KD mice compared to GFP injected controls mice.

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Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes

Project description:Deleterious genetic variants in POGZ, which encodes the chromatin regulator Pogo Transposable Element with ZNF Domain protein, are strongly associated with autism spectrum disorder (ASD). Although it is a high confidence ASD risk gene, the neurodevelopmental functions of POGZ remain unclear. Here we reveal the genomic binding of POGZ in the developing forebrain at euchromatic loci and gene regulatory elements (REs). We profile chromatin accessibility and gene expression in Pogz-/- mice and show that POGZ promotes the active chromatin state and transcription of clustered synaptic genes. We further demonstrate that POGZ forms a nuclear complex and co-occupies loci with ADNP, another high-confidence ASD risk gene, and provide evidence that POGZ regulates other neurodevelopmental disorder risk genes as well. Our results reveal a neurodevelopmental function of an ASD risk gene and identify molecular targets that may elucidate its function in ASD.

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Transcriptome analysis of Adnp-heterozygous mice in the hippocampus

Project description:ADNP syndrome, involving the ADNP transcription factor in the SWI/SNF chromatin-remodeling complex, is characterized by developmental delay, intellectual disability, and autism spectrum disorders (ASD). In ASD, ADNP is a highly penetrant risk gene, accounting for ~0.17% cases. Although Adnp-haploinsufficient mice display various phenotypic deficits, the underlying synaptic mechanisms are poorly understood. Here we report age-differential synaptic plasticity deficits associated with cognitive inflexibility and CaMKIIα hyperactivity in Adnp-mutant mice. These mice show impaired and inflexible contextual learning and memory additional to social and anxiety-related deficits in adults long after a marked decrease in ADNP protein levels to ~10% of newborn levels in juveniles. In addition, Adnp-mutant adults show abnormally enhanced long-term potentiation in adults but not in juveniles. This accompanies CaMKIIα hyperactivity involving increased baseline autophosphorylation, as revealed by unbiased proteomic analyses. Therefore, ADNP haploinsufficiency in mice leads to cognitive inflexibility involving altered synaptic plasticity and signaling in adults long after a marked decrease in Adnp expression in juveniles.

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Targeted next-generation sequencing in family with an occurrence of neurodevelopmental disorders and epilepsy

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