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Abnormal Behavior and Cortical Connectivity Deficits in Mice Lacking Usp9x.
Maria A Kasherman1,2, Laura Currey1,2, Nyoman D Kurniawan3
1School of Biomedical Sciences, The University of Queensland, Brisbane 4072, Australia.
Cerebral Cortex (New York, N.Y. : 1991)
|November 14, 2020
Summary
The USP9X gene is crucial for brain development and function. Its absence in mice leads to neurodevelopmental issues, including social deficits and altered brain connectivity, offering insights into autism spectrum disorder (ASD).
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Genetic factors are linked to neurodevelopmental disorders like autism spectrum disorder (ASD), but their impact on brain structure and connectivity remains unclear.
- Proteins converging multiple genetic factors, such as USP9X, are key to understanding neurodevelopmental disorder biology.
- USP9X, a deubiquitinating enzyme, regulates ASD-related proteins and its loss-of-function variants cause brain malformations and neurodevelopmental syndromes including ASD.
Purpose of the Study:
- To investigate the role of USP9X in brain formation and function.
- To elucidate the structural and connectomic abnormalities underlying the neurodevelopmental syndrome associated with USP9X mutations.
Main Methods:
- Analysis of forebrain-specific Usp9x knockout mice (Usp9x-/y).
- Behavioral assessments of communication and social interaction.
- Diffusion tensor magnetic resonance imaging (dMRI) to analyze brain structure and connectivity.
Main Results:
- Usp9x-/y mice exhibited abnormal communication and social interaction behaviors.
- Significant reductions in the size of multiple brain regions were observed in Usp9x-/y mice.
- dMRI revealed deficits in major forebrain commissures and long-range hypoconnectivity between cortical and subcortical regions.
Conclusions:
- USP9X is identified as a critical regulator of brain development and function.
- The study provides insights into the neurodevelopmental syndrome associated with USP9X mutations in patients.
- Deficits in brain structure and connectivity are key features of the Usp9x-associated neurodevelopmental phenotype.
