Speaker: Dr. Daniel Cifuentes Buira
PI - Laboratory of RNA Regulation / Department of Biochemistry & Cell Biology / Chobanian & Avedisian Boston University School of Medicine, USA
Presentation
Host: Dr. Roger Gomis, Group Leader - Growth Control and Cancer Metastasis - IRB Barcelona
Node: Preclinical Models of Cancer
Date: Wednesday 21 October 2026, 12:00h
Place: Auditorium Room - PCB
Mutations in Argonaute 2 (AGO2), the central effector of miRNA-mediated gene repression, cause a neurodevelopmental disorder characterized by intellectual disability, speech delay, and autistic features. Because many disease-associated variants retain silencing activity, their pathogenic mechanism remains unclear.
Using in vivo high-throughput assays in Ago2-null zebrafish embryos, we systematically analyzed patient-derived AGO2 variants. We find that these mutations disrupt microRNA target-recognition fidelity, changing how AGO2 represses different classes of targets.
These findings reveal a target-specific gain-of-function mechanism linking AGO2 mutations to altered microRNA regulation during neurodevelopment and provide a framework for the functional interpretation of novel variants in AGO2 and its paralogs.
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