Deletions involving the GRID1 gene were found to be over-represented in ASD patients (n=14) compared to controls (n=3) (odds ratio of 5.412, P-value of 0.0031) in a whole-genome CNV study (Glessner et al., 2009). A paternally-inherited deletion involving the GRID1 gene was identified in an ASD case as part of a study using genome-wide SNP array for CNV detection by two distinct algorithms in a European ancestry case-control data set (Griswold et al., 2012). GRID1 expression was shown to be down-regulated in induced pluripotent stem cells and upregulated in neuronal precursors and mature neurons derived from fibroblasts from patients with MECP2 and CDKL5 mutations (Livide et al., 2015).
Molecular Function
This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Discovery: Autism Case-Control cohort of 859 ASD cases and 1,409 healthy children of European ancestry; Replication: AGRE cohort of 1,336 ASD cases and 1,110 controls of European ancestry.
Deletion of Grid1 leads to aberrant circuitry in prefrontal cortex and amygdala owing to its potential role in presynaptic differentiation and synapse formation.
References
Type
Title
Author, Year
Primary
Deletion of glutamate delta-1 receptor in mouse leads to aberrant emotional and social behaviors.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Targeted deletion of exons 11 and 12 of GRID1.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not specified
Genetic Background: 129/SvEv x C57BL/6
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified
Description: Abnormal social interaction demonstrated by same time spent around stranger mouse and empty container
Exp Paradigm: Male mice: sociability test
Description: Increased aggression-like behavior indicated by higher frequency of attacks and shorter latency to attack
Exp Paradigm: Male mice: resident intruder test after chronic lithium (.7 to 1.0 microm) treatment
Description: Increased aggression-like behavior indicated by higher frequency of attacks and shorter latency to attack
Exp Paradigm: Male mice: resident intruder test
Description: Increased depression-like behavior indicated by greater duration of immobility
Exp Paradigm: Male mice: forced swim test after chronic lithium (.7-1.0 mm) treatment
