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Updated: Mar 7, 2026
Quantitative Analysis of Neuronal Dendritic Arborization Complexity in Drosophila
Published on: January 7, 2019
Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal
1Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Shanghai Medical College, Fudan University, Shanghai, China.
Abstract:
Autism is a prevailing neurodevelopmental disorder with a large genetic/genomic component. Recently, the dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) gene was implicated as a risk factor for autism spectrum disorder (ASD). We identified five DYRK1A variants in ASD patients and found that the dose of DYRK1A protein has a crucial role in various aspects of postnatal neural development. Dyrk1a loss of function and gain of function led to defects in dendritic growth, dendritic spine development and radial migration during cortical development. Importantly, two autism-associated truncations, R205X and E239X, were shown to be Dyrk1a loss-of-function mutants. Studies of the truncated Dyrk1a mutants may provide new insights into the role of Dyrk1a in brain development, as well as the role of Dyrk1a loss of function in the pathophysiology of autism.
