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.
Dettagli del progetto
Responsabile scientifico: Elena Maestrini
Strutture Unibo coinvolte:
Dipartimento di Farmacia e Biotecnologie
Coordinatore:
ALMA MATER STUDIORUM - Università di Bologna(Italy)
Contributo totale di progetto: Euro (EUR) 228.361,00
Contributo totale Unibo: Euro (EUR) 114.882,00
Durata del progetto in mesi: 24
Data di inizio
30/11/2023
Data di fine:
28/02/2026
