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Signatures of positive selection in the cis-regulatory sequences of the human oxytocin receptor (OXTR) and arginine vasopressin receptor 1a (AVPR1A) genes

BACKGROUND: The evolutionary highly conserved neurohypophyseal hormones oxytocin and arginine vasopressin play key roles in regulating social cognition and behaviours. The effects of these two peptides are meditated by their specific receptors, which are encoded by the oxytocin receptor (OXTR) and a...

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Autores principales: Schaschl, Helmut, Huber, Susanne, Schaefer, Katrin, Windhager, Sonja, Wallner, Bernard, Fieder, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429470/
https://www.ncbi.nlm.nih.gov/pubmed/25968600
http://dx.doi.org/10.1186/s12862-015-0372-7
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author Schaschl, Helmut
Huber, Susanne
Schaefer, Katrin
Windhager, Sonja
Wallner, Bernard
Fieder, Martin
author_facet Schaschl, Helmut
Huber, Susanne
Schaefer, Katrin
Windhager, Sonja
Wallner, Bernard
Fieder, Martin
author_sort Schaschl, Helmut
collection PubMed
description BACKGROUND: The evolutionary highly conserved neurohypophyseal hormones oxytocin and arginine vasopressin play key roles in regulating social cognition and behaviours. The effects of these two peptides are meditated by their specific receptors, which are encoded by the oxytocin receptor (OXTR) and arginine vasopressin receptor 1a genes (AVPR1A), respectively. In several species, polymorphisms in these genes have been linked to various behavioural traits. Little, however, is known about whether positive selection acts on sequence variants in genes influencing variation in human behaviours. RESULTS: We identified, in both neuroreceptor genes, signatures of balancing selection in the cis-regulative acting sequences such as transcription factor binding and enhancer sequences, as well as in a transcriptional repressor sequence motif. Additionally, in the intron 3 of the OXTR gene, the SNP rs59190448 appears to be under positive directional selection. For rs59190448, only one phenotypical association is known so far, but it is in high LD’ (>0.8) with loci of known association; i.e., variants associated with key pro-social behaviours and mental disorders in humans. CONCLUSIONS: Only for one SNP on the OXTR gene (rs59190448) was a sign of positive directional selection detected with all three methods of selection detection. For rs59190448, however, only one phenotypical association is known, but rs59190448 is in high LD’ (>0.8), with variants associated with important pro-social behaviours and mental disorders in humans. We also detected various signatures of balancing selection on both neuroreceptor genes. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12862-015-0372-7) contains supplementary material, which is available to authorized users.
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spelling pubmed-44294702015-05-14 Signatures of positive selection in the cis-regulatory sequences of the human oxytocin receptor (OXTR) and arginine vasopressin receptor 1a (AVPR1A) genes Schaschl, Helmut Huber, Susanne Schaefer, Katrin Windhager, Sonja Wallner, Bernard Fieder, Martin BMC Evol Biol Research Article BACKGROUND: The evolutionary highly conserved neurohypophyseal hormones oxytocin and arginine vasopressin play key roles in regulating social cognition and behaviours. The effects of these two peptides are meditated by their specific receptors, which are encoded by the oxytocin receptor (OXTR) and arginine vasopressin receptor 1a genes (AVPR1A), respectively. In several species, polymorphisms in these genes have been linked to various behavioural traits. Little, however, is known about whether positive selection acts on sequence variants in genes influencing variation in human behaviours. RESULTS: We identified, in both neuroreceptor genes, signatures of balancing selection in the cis-regulative acting sequences such as transcription factor binding and enhancer sequences, as well as in a transcriptional repressor sequence motif. Additionally, in the intron 3 of the OXTR gene, the SNP rs59190448 appears to be under positive directional selection. For rs59190448, only one phenotypical association is known so far, but it is in high LD’ (>0.8) with loci of known association; i.e., variants associated with key pro-social behaviours and mental disorders in humans. CONCLUSIONS: Only for one SNP on the OXTR gene (rs59190448) was a sign of positive directional selection detected with all three methods of selection detection. For rs59190448, however, only one phenotypical association is known, but rs59190448 is in high LD’ (>0.8), with variants associated with important pro-social behaviours and mental disorders in humans. We also detected various signatures of balancing selection on both neuroreceptor genes. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12862-015-0372-7) contains supplementary material, which is available to authorized users. BioMed Central 2015-05-13 /pmc/articles/PMC4429470/ /pubmed/25968600 http://dx.doi.org/10.1186/s12862-015-0372-7 Text en © Schaschl et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Schaschl, Helmut
Huber, Susanne
Schaefer, Katrin
Windhager, Sonja
Wallner, Bernard
Fieder, Martin
Signatures of positive selection in the cis-regulatory sequences of the human oxytocin receptor (OXTR) and arginine vasopressin receptor 1a (AVPR1A) genes
title Signatures of positive selection in the cis-regulatory sequences of the human oxytocin receptor (OXTR) and arginine vasopressin receptor 1a (AVPR1A) genes
title_full Signatures of positive selection in the cis-regulatory sequences of the human oxytocin receptor (OXTR) and arginine vasopressin receptor 1a (AVPR1A) genes
title_fullStr Signatures of positive selection in the cis-regulatory sequences of the human oxytocin receptor (OXTR) and arginine vasopressin receptor 1a (AVPR1A) genes
title_full_unstemmed Signatures of positive selection in the cis-regulatory sequences of the human oxytocin receptor (OXTR) and arginine vasopressin receptor 1a (AVPR1A) genes
title_short Signatures of positive selection in the cis-regulatory sequences of the human oxytocin receptor (OXTR) and arginine vasopressin receptor 1a (AVPR1A) genes
title_sort signatures of positive selection in the cis-regulatory sequences of the human oxytocin receptor (oxtr) and arginine vasopressin receptor 1a (avpr1a) genes
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429470/
https://www.ncbi.nlm.nih.gov/pubmed/25968600
http://dx.doi.org/10.1186/s12862-015-0372-7
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