Neural Plasticity / 2011 / Article / Tab 2

Review Article

Genetics and Function of Neocortical GABAergic Interneurons in Neurodevelopmental Disorders

Table 2

Findings in autistic children and correlations in mice models.

FindingsReferences

Humans

FMR1Patients with fragile X syndrome often display autistic traitsLevitas et al. [133]
Brown et al. [134]
NRL4X/NRL3Point mutations in NRL4X and NRL3 associated with X-linked autismJamain et al. [135]
Point mutations in NRL4X in nonsyndromic autismLaumonnier et al. [136]
SHANK3Mutations in SHANK3 in nonsyndromic autismDurand et al. [137]
Gauthier et al. [138]
Moessner et al. [139]
SHANK2Mutations in SHANK2 in nonsyndromic autismBerkel et al. [140]
NRXN1Mutations in NRXN1 nonsyndromic autismSzatmari et al. [141]
Kim et al. [142]
GAD65/67 levels of GAD65/67 in cortexFatemi et al. [143]
Dlx1/2Polymorphisms in Dlx1/2 with increased susceptibility to autismLiu et al. [144]
15q11-13Maternal duplications in 15q11-13 in nonsyndromic autismBaker et al. [145]
including GABRA5, GABRG3, GABRB3 (GABAAR subunits)Hogart et al. [146]
MECP2Mutations in MECP2 explain the majority of Rett syndrome.Amir et al. [147]
Patients display autistic behaviors.Buyse et al. [148]
METPolymorphisms in MET promoter associated with autismJackson et al. [149]
Susceptibility locus for autism at 7q31 includes MET gene.Campbell et al. [150]

Mice

Fmr1Fmr1 k/o: behavioral anomalies improve with glutamatergic antagonistsDolen et al. [151]
Bear et al. [152, 153]
Neuroligins/
neurexins
NRL1/2 expression in nonneuronal cells trigger synapse formation in presynaptic cellsScheiffele et al. [154]
NL-1 overexpression in hippocampal neurons promotes assembly of excitatory and inhibitory synapses and knock-down results in loss of inhibitory > excitatory synapsesChih [155]
Presynaptic β-neurexin induces GABA and glutamate synapse differentiation in postcellGraf et al. [156]
NRL1,3,4 localise at glutamatergic synapses, NRL2 at both excitatory and inhibitoryGraf et al. [156]
MecP2Binds methylated CPG islands and exerts epigenetic control of UBE3A and GABR3 Samaco et al. [157]
Interneuron selective loss of MecP2 recapitulates the Rett-like behavioral aN in miceChao et al. [158]
uPAR, HGF, METuPAR−/− displays 50% loss of IN in cortex and seizure susceptibilityPowell et al. [11]
uPAR is required for the processing of HGF (an interneuron motogen),Powell et al. [159]
HGF, through its receptor MET, can rescue the phenotype of uPAR−/− miceBae et al. [160]
Interneuron selective MET ablation: PV cortex, striatal PV cells, disrupts reversal learningMartins et al. [161]