Epigenetic regulation of the oxytocin receptor gene: implications for behavioral neuroscience

• Published in: Frontiers in neuroscience Vol. 7; p. 83
• Main Authors: Kumsta, Robert, Hummel, Elisabeth, Chen, Frances S., Heinrichs, Markus
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Research Foundation 01.01.2013; Frontiers Media S.A
• Subjects: Autism; Autistic Disorder; Behavior; Brain research; Cognition; Cognition & reasoning; Deoxyribonucleic acid; DNA; DNA methylation; Endocrinology; Epigenetics; Gene expression; Genomes; Mental disorders; Methylation; Nervous system; Nucleotide sequence; Oxytocin; oxytocin receptor gene; Personality disorders; Phenotypes; Social behavior; Social interactions; social neuroscience; Studies; Germany; social neuroscience; oxytocin receptor gene; autistic disorder; methylation; epigenetics
• ISSN: 1662-453X; 1662-4548; 1662-453X
• DOI: 10.3389/fnins.2013.00083

Genetic approaches have improved our understanding of the neurobiological basis of social behavior and cognition. For instance, common polymorphisms of genes involved in oxytocin signaling have been associated with sociobehavioral phenotypes in healthy samples as well as in subjects with mental disorders. More recently, attention has been drawn to epigenetic mechanisms, which regulate genetic function and expression without changes to the underlying DNA sequence. We provide an overview of the functional importance of oxytocin receptor gene (OXTR) promoter methylation and summarize studies that have investigated the role of OXTR methylation in behavioral phenotypes. There is first evidence that OXTR methylation is associated with autism, high callous-unemotional traits, and differential activation of brain regions involved in social perception. Furthermore, psychosocial stress exposure might dynamically regulate OXTR. Given evidence that epigenetic states of genes can be modified by experiences, especially those occurring in sensitive periods early in development, we conclude with a discussion on the effects of traumatic experience on the developing oxytocin system. Epigenetic modification of genes involved in oxytocin signaling might be involved in the mechanisms mediating the long-term influence of early adverse experiences on socio-behavioral outcomes.