Oxytocin receptor gene

The human oxytocin receptor gene was isolated and characterised in 1994 [122], heralding the development of modern cloned receptor screening. The oxytocin receptor belongs to the Family A series of G-protein coupled 7-transmembrane receptors (GPCRs). A schematic representation of the generic structure of 7TM receptors is shown in Figure 7.3. 

Jacob S, Brune CW, Carter CS, Leventhal BE, Lord C, Cook EH Jr (2007) Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism. Neurosci Lett417 6-9... 

Wu S, JiaM, Ruan Y, Liu J, Guo Y, Shuang M, Gong X, Zhang Y, Yang X, Zhang D (2005) Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population. Biol Psychiatry 58 74-77. 

Lee M, Martin-Ruiz C, Graham A, Court J, Jaros E, Petty R, Iversen P, Baumtm M, Perry E 2002) Nicotinic receptor abnormalities in the cerebellar cortex in autism. Brain 125 1483-1495 Lerer E, Levi S, Salomon S, Darvasi A, Yitmiya N, Ebstein RP (2008) Association between the oxytocin receptor (OXTR) gene and autism relationship to Vineland adaptive behavior scales and cognition. Mol Psychiatry 13 980-988... 

Bakermans-Kranenburg MJ, van Ijzendoom MH (2008) Oxytocin receptor (OXTR) and serotonin transporter (5-HTT) genes associated with observed parenting. Soc Cogn Affect Neurosci 3 128-134. 

Lerer E, Levi S, Salomon S, Darvasi A, Yirmiya N, Ebstein RP (2007) Association between the oxytocin receptor (OXTR) gene and autism relationship to Vineland Adaptive Behavior Scales and cognition. Mol Psychiatry. 

Furthermore, clinical studies on ASD reported lower peripheral levels of OT (Modahl et al., 1998) and higher levels of a precursor form may be less active of OT (OT-X) (Green et al., 2001). Also patients with autism spectrum disorders showed a significant reduction in repetitive behaviours following oxytocin infusion in comparison to placebo infusion (Hollander et al., 2003) and intravenous oxytocin administration has been shown to facilitate retention of social information in those with autism (Hollander et al., 2007). Additional evidence for a link between OT and ASD comes from genetic studies, which associated the gene for the QT receptor (OTR) with autism (Auranen et al., 2002 Shao et al., 2002 Wu et al., 2005). 

Choleris E, Ogawa S, Kavaliers M, Gustafsson JA, Korach KS, MugUa LJ, Pfaff DW (2006) Involvement of estrogen receptor alpha, beta and oxytocin in sodal discrimination A detailed behavioral analysis with knockout female mice. Genes Brain Behav 5 528-539. 

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