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Relevance to Autism

OXT polymorphisms have been found to associate with a diagnosis of ASD (Chakrabarti et al., 2009; Francis et al., 2016), ASD subphenotypes (Yrigollen et al., 2008; Francis et al., 2016), and autistic-like traits in the general population (Hovey et al., 2014).

Molecular Function

This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a hormone involved in a number of processses, including contraction of smooth muscle during parturition and lactation, cognition, tolerance, adaptation, complex sexual and maternal behaviour, and the regulation of water excretion and cardiovascular functions.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Arginine vasopressin and oxytocin modulate human social behavior.
ASD
Asperger syndrome
Positive Association
Variants in Adjacent Oxytocin/Vasopressin Gene Region and Associations with ASD Diagnosis and Other Autism Related Endophenotypes.
ASD
Positive Association
Associations between oxytocin-related genes and autistic-like traits.
ALTs
Positive Association
Genes controlling affiliative behavior as candidate genes for autism.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN828R001 
 splice_site_variant 
 c.322+2T>C 
  
 Familial 
 Maternal 
 Multiplex 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
20
Deletion-Duplication
 33
 
20
Duplication
 1
 
20
Duplication
 1
 
20
Duplication
 1
 
20
Duplication
 3
 
20
Duplication
 1
 

Model Summary

Male mutant mice lacking the Oxt gene model deficits in social memory.

References

Type
Title
Author, Year
Primary
Social amnesia in mice lacking the oxytocin gene.
Additional
Oxytocin knockout mice: a model for studying stress-related and ingestive behaviours.
Model Type: Genetic
Model Genotype: Homozygous
Mutation: An oxytocin targeting vector constructed to delete exon1 of the oxytocin was injected in ES cells (Nishimore et al, PNAS, 1996). Chimaeric males (generated from mutant 129S7/SvEvBrd-Hprtb-m2 embryonic stem cells) were mated to C57BL/6J females to generate Oxt null mice. Since Oxt null mothers do not lactate, pups were cross-fostered to Oxt WT mothers within 2 h of birth to provide comparable postnatal experience for both mutant and control litter types.
Allele Type: Homozygous
Strain of Origin: 129S7/SvEvBrd-Hprtb-m2 and C57BL/6J
Genetic Background: 129S7/SvEvBrd-Hprtb-m2 and C57BL/6J
ES Cell Line: Hprt-negative AB2.1 ES cells
Mutant ES Cell Line: Mutant 129S7/SvEvBrd-Hprtb-m2 embryonic stem cells
Model Source:
Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Swimming ability1
Increased
 Morris water maze test
 Adult
Social habituation1
Decreased
 Olfactory habituation-dishabituation test
 2 months
Social memory1
Decreased
 Olfactory habituation-dishabituation test
 2 months
Exploratory activity1
Decreased
 Novel object recognition test
 Adult
Spatial learning1
 No change
 Water y-maze test
 4 months
Spatial learning1
 No change
 Morris water maze test
 4 months
Spatial reference memory1
 No change
 Water y-maze test
 4 months
Spatial reference memory1
 No change
 Morris water maze test
 4 months
Neuroreceptor levels: oxt1
 No change
 Radioligand binding studies
 Adult
Olfaction1
 No change
 Novel object recognition test
 Adult
Olfaction1
 No change
 Buried food test
 Adult
Startle response: acoustic stimulus1
 No change
 Acoustic startle reflex test
 Adult
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Maternal behavior, Molecular profile, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CUL2 cullin 2 8453 Q13617 IP; LC-MS/MS
Huttlin EL , et al. 2015
Mir24-1 microRNA 24-1 387142 Luciferase reporter assay
Choi JW , et al. 2013
NFS1 NFS1 nitrogen fixation 1 homolog (S. cerevisiae) 9054 Q53FP3 IP; LC-MS/MS
Huttlin EL , et al. 2015
NIF3L1 NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) 60491 Q9GZT8 IP; LC-MS/MS
Huttlin EL , et al. 2015
NR2C2 nuclear receptor subfamily 2, group C, member 2 7182 P49116 EMSA; Luciferase reporter assay
Wang CP , et al. 2006
OXTR oxytocin receptor 5021 P30559 Ligand binding assay
Kimura T , et al. 1994
SHC1 SHC (Src homology 2 domain containing) transforming protein 1 6464 P29353 IP; LC-MS/MS
Huttlin EL , et al. 2015
VHL von Hippel-Lindau tumor suppressor 7428 P40337 IP; LC-MS/MS
Huttlin EL , et al. 2015

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