TY  - JOUR
AU  - Poquérusse, Jessie
AU  - Luikart, Bryan
PY  - 2017
DA  - 2017/04/24
TI  - A Neurodevelopmental Perspective for Autism-Associated Gene Function
JO  - OBM Neurobiology
SP  - 004
VL  - 01
IS  - 02
AB  - Large-scale genetic sequencing studies have identified a wealth of genes in which mutations are associated with autism spectrum disorder (ASD).  Understanding the biological function of these genes will shed light onto the neurodevelopmental basis of ASD.  Here, we defined functional categories representing brain development -- (1) Cell Division and Survival, (2) Cell Migration and Differentiation, (3) Neuronal Morphological Elaboration, (4) Development and Regulation of Cellular Excitability, and (5) Synapse Formation and Function.  We place 100 high confidence ASD-associated genes yielding at least 50 published articles into these categories based on keyword searches.  We compare the categorization of ASD genes to genes associated with developmental delay (DD).  We then review the published literature on the function of these genes.  We find evidence that ASD-associated genes have important functions that span the neurodevelopmental continuum.  Further, examining the temporal expression pattern of these genes using the BrainSpan Atlas of the Developing Human Brain supports their function across development.  Thus, our analyses and review of literature on gene function support a model whereby disruption of brain development – from very early stages of macroarchitectural patterning to late stages of activity-dependent sculpting of synaptic connectivity – can lead to ASD.  It will be important to determine whether there exist points of mechanistic convergence which could explain a common pathophysiological basis of ASD behind this seemingly disparate array of genes.
SN  - 2573-4407
UR  - https://doi.org/10.21926/obm.neurobiol.1702004
DO  - 10.21926/obm.neurobiol.1702004
ID  - Poquérusse2017
ER  -