Oxytocin and arginine vasopressin receptor evolution: implications for adaptive novelties in placental mammals

Paré, Pamela; Paixão‐Côrtes, Vanessa Rodrigues; Tovo‐Rodrigues, Luciana; Vargas-Pinilla, Pedro; Viscardi, Lucas Henriques; Salzano, Francisco M.; Henkes, Luiz Ernani; Bortolini, María Cátira

doi:10.1590/1678-4685-gmb-2015-0323

Cited by 18 publications

(12 citation statements)

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“…Our analyses have shown that OXT , AVP and AVPR1a are under purifying selection. As expected, OXTR seems to be under evolutionary constraint in the set of mammals considered here, corroborating earlier studies ( Paré et al , 2016 ). However, despite this general pattern, there is evidence that OXTR has been under positive selection in some New World monkey branches, where it has coevolved with taxon-specific OXT forms ( Vargas-Pinilla et al , 2015 ).…”

Section: Resultssupporting

confidence: 93%

“…Recently, Paré et al (2016) explored the evolutionary forces acting on the four receptors OXTR , AVPR1a, AVPR1b , and AVPR2 in a set of 35 placental mammal orthologs. They found evidence for a dynamic scenario, in which OXTR was under evolutionary constraint, while AVPR1a, AVPR1b , and AVPR2 exhibited elevated rates of evolution, indicating a relaxation of selective pressures, or even positive selection of novel vasopressin receptor variants in the Placentalia ( Paré et al , 2016 ). In the light of these recent findings of the genetic variability of the OXT-AVP system, we aimed to explore whether amino acid changes at AVP, OXT, OXTR, AVPR2, AVPR1a , and AVPR1b could be associated with the animal domestication process.…”

Section: Introductionmentioning

confidence: 99%

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Oxytocin and arginine vasopressin systems in the domestication process

et al. 2018

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Domestication is of unquestionable importance to the technological revolution that has given rise to modern human societies. In this study, we analyzed the DNA and protein sequences of six genes of the oxytocin and arginine vasopressin systems (OXT-OXTR; AVP-AVPR1a, AVPR1b and AVPR2) in 40 placental mammals. These systems play an important role in the control of physiology and behavior. According to our analyses, neutrality does not explain the pattern of molecular evolution found in some of these genes. We observed specific sites under positive selection in AVPR1b (ω = 1.429, p = 0.001) and AVPR2 (ω= 1.49, p = 0.001), suggesting that they could be involved in behavior and physiological changes, including those related to the domestication process. Furthermore, AVPR1a, which plays a role in social behavior, is under relaxed selective constraint in domesticated species. These results provide new insights into the nature of the domestication process and its impact on the OXT-AVP system.

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Section: Resultssupporting

confidence: 93%

Section: Introductionmentioning

confidence: 99%

Oxytocin and arginine vasopressin systems in the domestication process

et al. 2018

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“…Arginine vasopressin receptor 1a ( AVPR1a ) is largely expressed throughout the brain (Kantojärvi et al, 2015 ), but also in the liver, kidneys, and vasculature. It is considered to be a crucial receptor for regulation of a set of social behaviors in humans (Ebstein et al, 2009 , 2012 ; Francis et al, 2016 ), such as altruism and social integration (Israel et al, 2008 ; Knafo et al, 2008 ), prepulse inhibition (Levin et al, 2009 ), emotional and cognitive empathy (Israel et al, 2008 ; Knafo et al, 2008 ; Moons et al, 2014 ; Uzefovsky et al, 2015 ; Wang et al, 2016 ), processing and recognition of facial expressions (Israel et al, 2008 ; Knafo et al, 2008 ; Moons et al, 2014 ; Uzefovsky et al, 2015 ; Wang et al, 2016 ) and non-human mammals (Murakami et al, 2011 ; Freeman et al, 2014 ; Paré et al, 2016 ; Lesse et al, 2017 ). Even though vasopressin distribution patterns are quite similar across species, AVPR1a partitions differ both between and within species.…”

Section: Methodsmentioning

confidence: 99%

A Review of Oxytocin and Arginine-Vasopressin Receptors and Their Modulation of Autism Spectrum Disorder

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Azhari

Esposito

2018

Front. Mol. Neurosci.

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Oxytocin (OXT) and arginine-vasopressin (AVP) play a key regulatory part in social and affiliative behaviors; two aspects highly compromised in Autism Spectrum Disorder (ASD). Furthermore, variants in the adjacent oxytocin-vasopressin gene regions have been found to be associated with ASD diagnosis and endophenotypes. This review focuses mainly on common OXTr single nucleotide polymorphisms (SNPs), AVPR1a microsatellites and AVPR1b polymorphisms in relation to the development of autism. Although these genes did not surface in genome-wide association studies, evidence supports the hypothesis that these receptors and their polymorphisms are widely involved in the regulation of social behavior, and in modulating neural and physiological pathways contributing to the etiology of ASD. With a specific focus on variants considered to be among the most prevalent in the development of ASD, these issues will be discussed in-depth and suggestions to approach inconsistencies in the present literature will be provided. Translational implications and future directions are deliberated from a short-term and a forward-looking perspective. While the scientific community has made significant progress in enhancing our understanding of ASD, more research is required for the ontology of this disorder to be fully elucidated. By supplementing information related to genetics, highlighting the differences across male and female sexes, this review provides a wider view of the current state of knowledge of OXTr and AVPr mechanisms of functioning, eventually addressing future research in the identification of further risk factors, to build new strategies for early interventions.

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“…OXTR, AVPR1A , and AVPR1B are genes that emerged evolutionarily through duplication events and have both paralogous and orthologous relationships in placental mammals (Paré et al, 2016). Given their evolutionary connections, roles in social behavior, and potential as treatment target pathways in ASD, we investigated their genetic variation within an ASD population.…”

Section: Introductionmentioning

confidence: 99%

ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin—AVPR1A, AVPR1B, and OXTR

et al. 2016

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Background: There are limited treatments available for autism spectrum disorder (ASD). Studies have reported significant associations between the receptor genes of oxytocin (OT) and vasopressin (AVP) and ASD diagnosis, as well as ASD-related phenotypes. Researchers have also found the manipulation of these systems affects social and repetitive behaviors, core characteristics of ASD. Consequently, research involving the oxytocin/vasopressin pathways as intervention targets has increased. Therefore, further examination into the relationship between these neuropeptides and ASD was undertaken. In this study, we examined associations between variants in the receptor genes of vasopressin (AVPR1A, AVPR1B), oxytocin (OXTR), and ASD diagnosis along with related subphenotypes.Methods: Probands were assessed using Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, and clinical DSM-IV-TR criteria. Single nucleotide polymorphisms (SNPs) in AVPR1B and OXTR, and microsatellites in AVPR1A were genotyped in ~200 families with a proband with ASD. Family-based association testing (FBAT) was utilized to determine associations between variants and ASD. Haplotypes composed of OXTR SNPs (i.e., rs53576-rs2254298-rs2268493) were also analyzed due to previously published associations.Results: Using the additive inheritance model in FBAT we found associations between AVPR1B SNPs (rs28632197, p = 0.005, rs35369693, p = 0.025) and diagnosis. As in other studies, OXTR rs2268493 (p = 0.050) was associated with diagnosis. rs2268493 was also associated with ASD subphenotypes of social withdrawal (p = 0.013) and Insistence on Sameness (p = 0.039). Further analyses demonstrated that the haplotype, rs2254298–rs2268493 was found to be significantly associated with diagnosis (A-T; p = 0.026). FBAT was also used to analyze AVPR1A microsatellites (RS1 and RS3). Both length variants were found to be associated with restrictive, repetitive behaviors, but not overall diagnosis. Correction for multiple comparisons was performed for SNPs tested in each gene region, only AVPR1B SNPs remained significantly associated with ASD diagnosis.Conclusions: Autism is a heterogeneous disorder with many genes and pathways that contribute to its development. SNPs and microsatellites in the receptor genes of OT and AVP are associated with ASD diagnosis and measures of social behavior as well as restricted repetitive behaviors. We reported a novel association with ASD and AVPR1B SNPs. Understanding of genotype-phenotype relationships may be helpful in the development of pharmacological interventions for the OT/AVP system.

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Oxytocin and arginine vasopressin receptor evolution: implications for adaptive novelties in placental mammals

Cited by 18 publications

References 57 publications

Oxytocin and arginine vasopressin systems in the domestication process

Oxytocin and arginine vasopressin systems in the domestication process

A Review of Oxytocin and Arginine-Vasopressin Receptors and Their Modulation of Autism Spectrum Disorder

ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin—AVPR1A, AVPR1B, and OXTR

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