TITLE:
16p11.2 is required for neuronal polarity
AUTHORS:
Zhi Li, Xi He, Jiexiong Feng
KEYWORDS:
Neuronal Polarity; 16p11.2; Autism; Epilepsy; Neuronal Development
JOURNAL NAME:
World Journal of Neuroscience,
Vol.3 No.4,
September
11,
2013
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.