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Relevance to Autism

Pglyrp2-knockout mice were shown to exhibit altered expression of the autism risk gene c-Met, as well as sex-dependent changes in social behavior, similar to mice with manipulated microbiota (Arentsen et al., 2016).

Molecular Function

This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. This protein hydrolyzes the link between N-acetylmuramoyl residues and L-amino acid residues in bacterial cell wall glycopeptides, and thus may play a scavenger role by digesting biologically active peptidoglycan into biologically inactive fragments.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The bacterial peptidoglycan-sensing molecule Pglyrp2 modulates brain development and behavior.
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN859R001 
 intron_variant 
 c.1343+35dup 
  
 De novo 
 NA 
  
 GEN859R002 
 missense_variant 
 c.386A>G 
 p.Glu129Gly 
 De novo 
 NA 
 Simplex 
 GEN859R003 
 missense_variant 
 c.943C>T 
 p.Arg315Cys 
 De novo 
 NA 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 16
 
19
Deletion
 4
 
19
Duplication
 1
 
19
Duplication
 1
 
19
Deletion
 2
 
19
Duplication
 2
 
19
Deletion-Duplication
 5
 
19
Duplication
 1
 
19
Duplication
 1
 

Model Summary

Pglyrp2 knockout mice have abnormal expression of the brain circuit formation markers, Met and BDNF, and synaptogenesis marker, Syp. Pglyrp2 knockout mice exhibit increased social approach for male and female mice in three-chamber tests.

References

Type
Title
Author, Year
Primary
The bacterial peptidoglycan-sensing molecule Pglyrp2 modulates brain development and behavior.

M_PGLYRP2_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: A construct containing EGFP-floxed Neo cassette is introduced inframe downstream to the start codon in exon 1, which results in a null allele after removing the Neo gene by Cre.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not specified
Genetic Background: C57BL/6
ES Cell Line: 129S4/SvJae-Tg(Prm-cre)70Og
Mutant ES Cell Line:
Model Source: Jax Lab

M_PGLYRP2_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social approach1
Increased
Description: Pglyrp2 nulls show increased social approach relative to wildtype controls
Exp Paradigm: Three-chamber social approach test: sociability
 Three-chamber social approach test
 Unreported
Gene expression1
Increased
Description: Increased gene expression of met or syp in the prefrontal cortex of pglyrp2 nulls and in the amygdala of female nulls or in the prefrontal cortex and striatum of female nulls, respectively
Exp Paradigm: Rt-qpcr: met, bdnf, syp
 Quantitative pcr (qrt-pcr)
 P3
Gene expression1
Decreased
Description: Decreased gene expression of met or bdnf in the striatum of pglyrp2 null female mice or male mice, respectively
Exp Paradigm: Rt-qpcr: met, bdnf, syp
 Quantitative pcr (qrt-pcr)
 P3
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

No PIN Data Available
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