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

BMC Evolutionary Biology

Research Article

Helmut Schaschl¹  Sonja Windhager¹  Martin Fieder¹  Susanne Huber¹  Katrin Schaefer¹  Bernard Wallner² 

[1] Department of Anthropology, University of Vienna, Vienna, Austria;Department of Anthropology, University of Vienna, Vienna, Austria;Cognitive Science Platform at the University of Vienna, Vienna, Austria;Department of Behavioural Biology, University of Vienna, Vienna, Austria;

关键词: Oxytocin receptor;    Arginine vasopressin 1a receptor;    Positive selection;    Balancing selection;    Genetic diversity;   

DOI  :  10.1186/s12862-015-0372-7

 received in 2014-11-07, accepted in 2015-04-29,  发布年份 2015

来源: Springer

【 摘 要 】

BackgroundThe 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.ResultsWe 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.ConclusionsOnly 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.

【 授权许可】

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© 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.