The oxytocin receptor gene (OXTR) localizes to human chromosome 3p25 by fluorescence in situ hybridization and PCR analysis of somatic cell hybrids

Simmons, Charles F.; Clancy, Thomas E.; Quan, Reagan; Knoll, Joan H.M.

doi:10.1016/0888-7543(95)80188-r

Cited by 37 publications

(15 citation statements)

References 9 publications

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“…Association studies have shown that several SNPs and their haplotypes in the OXTR gene increase risk for ASD (20)(21)(22)(23). Genome-wide scans likewise indicate that the 3p25 region, which contains the OXTR gene (24), may be associated with ASD (25)(26)(27)(28). A separate body of research has repeatedly implicated two intronic OXTR gene SNPs, rs2254298 and rs53576, in social functioning in both neurotypical and neuropsychiatric populations (29)(30)(31)(32).…”

Section: Significancementioning

confidence: 99%

Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder

Parker¹,

Garner

Libove³

et al. 2014

Proc. Natl. Acad. Sci. U.S.A.

199

184

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The neuropeptide oxytocin (OXT) and its receptor (OXTR) regulate social functioning in animals and humans. Initial clinical research suggests that dysregulated plasma OXT concentrations and/or OXTR SNPs may be biomarkers of social impairments in autism spectrum disorder (ASD). We do not know, however, whether OXT dysregulation is unique to ASD or whether OXT biology influences social functioning more generally, thus contributing to, but not causing, ASD phenotypes. To distinguish between these possibilities, we tested in a child ASD cohort, which included unaffected siblings and unrelated neurotypical controls (ages 3-12 y; n = 193), whether plasma OXT concentrations and OXTR SNPs (i) interact to produce ASD phenotypes, (ii) exert differential phenotypic effects in ASD vs. non-ASD children, or (iii) have similar phenotypic effects independent of disease status. In the largest cohort tested to date, we found no evidence to support the OXT deficit hypothesis of ASD. Rather, OXT concentrations strongly and positively predicted theory of mind and social communication performance in all groups. Furthermore, OXT concentrations showed significant heritability between ASD-discordant siblings (h 2 = 85.5%); a heritability estimate on par with that of height in humans. Finally, carriers of the "G" allele of rs53576 showed impaired affect recognition performance and carriers of the "A" allele of rs2254298 exhibited greater global social impairments in all groups. These findings indicate that OXT biology is not uniquely associated with ASD, but instead exerts independent, additive, and highly heritable influences on individual differences in human social functioning, including the severe social impairments which characterize ASD. T he neuropeptide oxytocin (OXT) and its receptor (OXTR) regulate affiliative motivation, social bonding, and social recognition in animals (1, 2). Preclinical research likewise has shown that individual differences in OXT biology (e.g., OXT concentrations, OXTR distribution in key brain regions) are associated with individual differences in social functioning (3-6). At the extreme, experimental manipulations that diminish OXT peptide and/or receptor signaling produce a variety of social deficits in animal models (7,8).Translation of this animal research to neurotypical populations has confirmed that OXT administration enhances social functioning in humans (9, 10). Individual differences in endogenous OXT concentrations are also positively correlated with social behavior measures (11, 12), such that lower OXT concentrations are frequently associated with diminished social functioning even within neurotypical cohorts. This research has led to the hypothesis that abnormalities in OXT peptide biology may be directly related to social impairments observed in clinical populations, particularly in people with autism spectrum disorder (ASD), who exhibit core deficits in social interactions and preferences, eye contact, facial recognition, empathy, and social communication.Several studies have begun to exp...

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Section: Significancementioning

confidence: 99%

Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder

Parker¹,

Garner

Libove³

et al. 2014

Proc. Natl. Acad. Sci. U.S.A.

199

184

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“…In humans, OXTR maps to HSA3p25 (Simmons et al, 1995) and SUMF1 maps to HSA3p26 (Dierks et al, 2003). As seen in Case #2, the homology of ECA16 is disrupted with a short inverted HSA3p26 ] p25 ( OXTR and SUMF1 ) segment distal to the HSA3q21 ] q24 ( RHO ) segment proximal to the centromere.…”

Section: Discussionmentioning

confidence: 89%

Three autosomal chromosome translocations associated with repeated early embryonic loss (REEL) in the domestic horse (<i>Equus caballus</i>)

Lear

Lundquist

Zent

et al. 2008

Cytogenet Genome Res

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Repeated early embryonic loss (REEL) represents a considerable economic loss to the horse industry. Mares that experience REEL may be overlooked as poten- tial carriers of a chromosome abnormality. Here we report three different autosomal translocations in Thoroughbred mares presented for chromosome analysis because of REEL. The karyotypes were 64,XX,t(1;21), 64,XX,t(16;22), and 64,XX,t(4;13), respectively. In order to confirm the chromosomes involved in the translocations, to map the breakpoints, and to determine if the translocations were reciprocal, genes surrounding the breakpoints were identified using existing maps and from the newly assembled horse genome sequence. Bacterial artificial chromosomes containing the genes of interest were identified and mapped to the translocation chromosomes by fluorescence in situ hybridization (FISH). FISH confirmed that the t(16;22) and t(4;13) translocations were reciprocal, while the t(1;21) was not. The breakpoints on horse chromosomes 1 and 16 appear to be the same or near breakpoints previously identified in translocations. These breakpoints are at the fusion boundary of human chromosomes 10 and 15 on horse chromosome 1 and at human chromosome 3p and 3q on horse chromosome 16. These sites may represent ancient breakpoints reused during equid evolution. Overall, chromosome abnormalities may have a greater influence on mare fertility than previously known. Thus, it is important to karyotype subfertile mares exhibiting REEL.

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“…On the basis of these previous findings and the present results, it is suggested that the pattern of oxytocin receptor gene expression is not only tissue-specific, but also highly function-related. Since the oxytocin receptor gene is a single-copy gene per haploid genome and is well conserved among vertebrate species (Bathgate et al, 1995;Simmons et al, 1995), the occurrence of polymorphic sequences in the RACE-generated products from oxytocin receptor mRNA indicates the presence of post-transcriptional modifications, probably through mRNA editing. The possibility of PCR-generated errorrs cannot be excluded, but is unlikely since reproducible results were obtained from several independent reactions.…”

Section: Discussionmentioning

confidence: 99%

Regulation of oxytocin receptor gene expression in sheep: tissue specificity, multiple transcripts and mRNA editing

Feng

Bhave²,

Fairclough³

2000

Reproduction

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The oxytocin receptor gene (OXTR) localizes to human chromosome 3p25 by fluorescence in situ hybridization and PCR analysis of somatic cell hybrids

Cited by 37 publications

References 9 publications

Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder

Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder

Three autosomal chromosome translocations associated with repeated early embryonic loss (REEL) in the domestic horse (<i>Equus caballus</i>)

Regulation of oxytocin receptor gene expression in sheep: tissue specificity, multiple transcripts and mRNA editing

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