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Autism-Related Genetic Mutation in Dogs Reveals Face Processing Deficits

by Lisa

A recent study has uncovered significant face processing abnormalities in Beagle dogs carrying a mutation in the Shank3 gene, a gene linked to autism spectrum disorder (ASD) in humans. These findings, published on April 3 in Science Advances, suggest that these dogs exhibit cognitive traits similar to those observed in individuals with ASD.

The research was conducted by Prof. Zhang Yongqing from the Chinese Academy of Sciences’ Institute of Genetics and Developmental Biology, alongside Prof. Han Shihui from Peking University. ASD, a neurodevelopmental condition characterized by social communication difficulties and repetitive behaviors, has long been associated with disruptions in face recognition, a crucial component of social interaction. Despite the identification of several ASD-related genes, the direct impact of specific mutations on face processing has remained unclear.

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To explore this, the team devised a social preference test focused on face recognition, comparing Shank3 mutant dogs with normal, wild-type Beagles. The mutant dogs showed a marked decrease in their interest in facial stimuli and displayed no preference for conspecific faces, suggesting a significant impairment in face-related social behavior.

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Eye-tracking technology was then employed to assess visual attention. The results revealed that the Shank3 mutants paid significantly less attention to faces, particularly the eye regions of human faces. Further analysis using electrocorticography (ECoG) revealed that the dogs had a weaker and delayed brain response in the N1 wave, which typically occurs around 100 milliseconds after facial stimuli are presented.

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The study also examined the dogs’ ability to categorize faces by species and breed. While wild-type dogs were able to distinguish between different facial categories, Shank3 mutant dogs exhibited significant deficits in this ability, responding similarly to all faces regardless of type.

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These findings provide concrete evidence linking Shank3 mutations to ASD-like face processing deficits, contributing to the understanding of social impairments in ASD. Moreover, the research establishes a promising new animal model to investigate the genetic and neural mechanisms underlying autism.

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