Signatures of positive selection in the cis-regulatory sequences of the human oxytocin receptor OXTR and arginine vasopressin receptor 1a AVPR1A genesReportar como inadecuado




Signatures of positive selection in the cis-regulatory sequences of the human oxytocin receptor OXTR and arginine vasopressin receptor 1a AVPR1A genes - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

BMC Evolutionary Biology

, 15:85

First Online: 13 May 2015Received: 07 November 2014Accepted: 29 April 2015DOI: 10.1186-s12862-015-0372-7

Cite this article as: Schaschl, H., Huber, S., Schaefer, K. et al. BMC Evol Biol 2015 15: 85. doi:10.1186-s12862-015-0372-7

Abstract

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.

KeywordsOxytocin receptor Arginine vasopressin 1a receptor Positive selection Balancing selection Genetic diversity AbbreviationsOXTROxytocin receptor

AVPR1AArginine vasopressin receptor 1a

SNPSingle nucleotide polymorphism

LDLinkage disequilibrium

5′ UTR5′ upstream region

DRD4 7R alleleSeven-repeat variant of the dopamine receptor gene D4

ADHDAttention-deficit hyperactivity disorder

MAO-AMonoamine oxidase A gene

FSTFixation index

kbkilobases

3′ UTR3′ untranslated region

MAFMinor allele frequency

HEExpected heterozygosity

FDRFalse discovery rate

MCMCMarkov Chain Monte Carlo

BFBayes Factor

FLKExtended Lewontin and Krakauer test

NJNeighbour joining

Electronic supplementary materialThe 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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Autor: Helmut Schaschl - Susanne Huber - Katrin Schaefer - Sonja Windhager - Bernard Wallner - Martin Fieder

Fuente: https://link.springer.com/







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