ArticleBMC evolutionary biology2009
A complex selection signature at the human AVPR1B gene.
Article in BMC evolutionary biology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 15 citations in OpenAlex.
- Arginine-vasopressin systems in autistic phenotype schizophrenia: effect of a genetic variant of AVPR1a and AVPR1b.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Glutamate-specific gene linked to human brain evolution enhances synaptic plasticity and cognitive processes.iScience · 2024Article
- Article
- Oxytocin and arginine vasopressin systems in the domestication process.Genetics and molecular biology · 2018Article
- Family-based study of AVPR1B association and interaction with stressful life events on depression and anxiety in suicide attempts.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2013Article
- Complex interplay of evolutionary forces in the ladybird homeobox genes of Drosophila melanogaster.PloS one · 2011Article
- Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans.Genetics and molecular biologyArticle
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe vasopressin receptor type 1b (AVPR1B) is mainly expressed by pituitary corticotropes and it mediates the stimulatory effects of AVP on ACTH release; common AVPR1B haplotypes have been involved in mood and anxiety disorders in humans, while rodents lacking a functional receptor gene display behavioral defects and altered stress responses.
resultsHere we have analyzed the two exons of the gene and the data we present suggest that AVPR1B has been subjected to natural selection in humans. In particular, analysis of exon 2 strongly suggests the action of balancing selection in African populations and Europeans: the region displays high nucleotide diversity, an excess of intermediate-frequency alleles, a higher level of within-species diversity compared to interspecific divergence and a genealogy with common haplotypes separated by deep branches. This relatively unambiguous situation coexists with unusual features across exon 1, raising the possibility that a nonsynonymous variant (Gly191Arg) in this region has been subjected to directional selection.
conclusionAlthough the underlying selective pressure(s) remains to be identified, we consider this to be among the first documented examples of a gene involved in mood disorders and subjected to natural selection in humans; this observation might add support to the long-debated idea that depression/low mood might have played an adaptive role during human evolution.
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