Abstract
Autism Spectrum Disorder (ASD) has a complex genetic basis, but the role of non-coding variation remains largely unexplored. This project aims to identify rare de novo variants in non-coding regulatory elements contributing to ASD risk, focusing on human-mouse syntenic Long Range Interactions (hmsLRI) identified through RNApolIII-ChIA-PET in neural stem cells. We will analyze whole genome sequencing data from ASD cohorts to identify variants overlapping conserved regulatory regions and assess their target genes. We will prioritize enhancers hosting multiple rare de novo variants and/or connected to target genes representing known or novel candidates for ASD. To assess their function, we will modulate selected enhancers in mouse neural stem cells using CRISPR-dCas9 and test effects on gene expression and cellular phenotypes. This work will advance understanding of non-coding variation in ASD and uncover novel regulatory elements and genes involved in neurodevelopment.
Project details
Unibo Team Leader: Elena Maestrini
Unibo involved Department/s:
Dipartimento di Farmacia e Biotecnologie
Coordinator:
ALMA MATER STUDIORUM - Università di Bologna(Italy)
Total Eu Contribution: Euro (EUR) 228.361,00
Total Unibo Contribution: Euro (EUR) 114.882,00
Project Duration in months: 24
Start Date:
30/11/2023
End Date:
28/02/2026
