Abstract
Since Autism Spectrum Disorder (ASD) is strongly associated with chromosomal abnormalities of 16p11.2, and Autism has been linked to neuronal polarity defect, our study aimed to explore the role of 16p11.2 genes in regulating neuronal polarity. We performed a neuronal polarity assay in a high throughput manner for candidate genes at 16p11.2. Our most interesting finding was that three 16p11.2 candidate genes, DOC2a, Tbx-6 and KIF 22, affected neuronal polarity. Our research, for the first time, indicates a novel association between 16p11.2 and neuronal polarity. Our results support the hypothesis that 16p11.2 is required for neuronal polarity. Our research provides new important insights into molecular mechanisms underlying the tight association between 16p11.2 and several neural developmental disorders, including autism, epilepsy, mental retardation and schizophrenia.
Highlights
Neuronal polarity, defined as neurons which are highly polarized cells, presenting two molecularly and functionally different compartment, single axon and multiple dendrites, is fundamental for neural development and function [1,2]
Since Autism Spectrum Disorder (ASD) is strongly associated with chromosomal abnormalities of 16p11.2, and Autism has been linked to neuronal polarity defect, our study aimed to explore the role of 16p11.2 genes in regulating neuronal polarity
Our research provides new important insights into molecular mechanisms underlying the tight association between 16p11.2 and several neural developmental disorders, including autism, epilepsy, mental retardation and schizophrenia
Summary
Neuronal polarity, defined as neurons which are highly polarized cells, presenting two molecularly and functionally different compartment, single axon and multiple dendrites, is fundamental for neural development and function [1,2]. The formation of axon-dendrite polarity is crucial for neurons to make the proper information flow within the neural system [1]. Neuronal polarity has been studied using dissociated mice embryonic hippocampal neurons, which undergo characteristic growth stages in culture [1,3]. These neurons initially form multiple lamellipodia after plating and generating minor neurites with similar lengths at stage 1 - 2. Numerous proteins controlling the establishment of neuronal polarity were identified, including microtubule-associated protein [5], kinesin motor proteins [6], N-cadherin [7], glycogen synthase kinase-3 beta (GSK-3β) [8], SAD kinases [9,10], scaffolding proteins [11] and actin cytoskeleton [12]
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