Shank3 Gene Mutation in Beagles Mirrors Facial Processing Deficits Seen in Autism, Study Finds

A study published in *Science Advances* on April 3, 2025, indicates that Beagle dogs with mutations in the Shank3 gene, a known risk factor for autism spectrum disorder (ASD), display face processing abnormalities akin to those observed in humans with ASD. The research, spearheaded by Professor Zhang Yongqing from the Institute of Genetics and Developmental Biology at the Chinese Academy of Sciences and Professor Han Shihui from Peking University, leverages Shank3 mutant Beagles to investigate neurodevelopmental disorders. Autism is often characterized by social impairments, communication challenges, and repetitive behaviors. The ability to process facial cues is vital for social interaction, and impairments in this area are linked to social difficulties in individuals with autism. In this study, a face-based social preference test was used to compare Shank3 mutant dogs with wild-type dogs. The mutant dogs exhibited a reduced preference for faces, demonstrating a lack of attraction to faces of their own species. This suggests a connection between the Shank3 mutation and deficits in social behaviors related to face recognition. Eye-tracking technology revealed that Shank3 mutant Beagles spent less time looking at faces, particularly the eye region, which is crucial for social signaling. Electrocorticography (ECoG) showed that these dogs had a decreased amplitude of the face-specific N1 brainwave component and a delayed response to facial stimuli. The N1 brainwave, typically observed around 100 milliseconds after stimulation, reflects neural mechanisms involved in face perception. In categorization tasks, wild-type dogs could differentiate between facial types of different species and breeds, showing a delayed reaction to faces of their own species. Conversely, Shank3 mutant dogs struggled to categorize faces, further highlighting the link between genetic mutations and cognitive deficiencies. This study provides evidence that Shank3 gene mutations can lead to ASD-like deficits in face processing, potentially paving the way for new experimental approaches to understanding the genetic and neural underpinnings of autism and opening avenues for potential therapeutic interventions.