Abstract

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.

Highlights

  • Research across species has shown that the neuropeptide oxytocin plays a key role in the regulation of social cognition and behavior

  • One avenue of research in the social neurosciences aims at identifying variations in specific genes which contribute to individual differences in social behavior and cognition, and to disease susceptibility for neuropsychiatric or developmental disorders characterized by social deficits

  • This review describes the functional importance of oxytocin receptor gene (OXTR) promoter methylation with regard to transcriptional control and summarizes studies that have investigated the role of OXTR methylation in behavioral phenotypes

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Summary

Introduction

Research across species has shown that the neuropeptide oxytocin plays a key role in the regulation of social cognition and behavior. CpG islands often span the promoter region of genes and are associated with active gene expression (Saxonov et al, FIGURE 1 | Panel (A) (top) shows the genomic organization of the oxytocin receptor gene (OXTR).

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