Autism-associated Dyrk1a truncation mutants impair neuronal d

LV-Dyrk1a shRNA was used to silence the Dyrk1a gene to study the function of it. (From BrainVTA)

The viruses used in this article from BrainVTA are in the table below

Lentivirus

LV-Dyrk1a shRNA

T Dang, WY Duan, BYu, DL Tong, C Cheng, YF Zhang, WWu, KYe, WX Zhang, MWu, BBWu, YAn, ZL Qiu and BL Wu
Pub Date: 2017-02-07, DOI: 10.1038/mp.2016.253, Email: [email protected]
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.

Figure1. The speciﬁc cellular morphology of neurons expressing the CAG vector (as a control), Dyrk1a RNAi, Dyrk1a WT overexpression, the two truncations (R205X and E239X) and the three missense mutations (H119Y, A195T and L259F).

DYRK1A is a critical gene for syndromic ASD and ID or DD. In this study, the authors 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. Which 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.

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