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A complex selection signature at the human AVPR1B gene

The 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 behav... Full description

Journal Title: BMC evolutionary biology 2009-06-01, Vol.9 (1), p.123-123
Main Author: Cagliani, Rachele
Other Authors: Fumagalli, Matteo , Pozzoli, Uberto , Riva, Stefania , Cereda, Matteo , Comi, Giacomo P , Pattini, Linda , Bresolin, Nereo , Sironi, Manuela
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: England: BioMed Central Ltd
ID: ISSN: 1471-2148
Link: https://www.ncbi.nlm.nih.gov/pubmed/19486526
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title: A complex selection signature at the human AVPR1B gene
format: Article
creator:
  • Cagliani, Rachele
  • Fumagalli, Matteo
  • Pozzoli, Uberto
  • Riva, Stefania
  • Cereda, Matteo
  • Comi, Giacomo P
  • Pattini, Linda
  • Bresolin, Nereo
  • Sironi, Manuela
subjects:
  • Affective disorders
  • African Continental Ancestry Group - genetics
  • Animals
  • Ecology, Evolution, Behavior and Systematics
  • European Continental Ancestry Group - genetics
  • Evolution
  • Evolution, Molecular
  • Exons
  • Genetic aspects
  • Genetic Variation
  • Genetics, Population
  • Haplotypes
  • Hormone receptors
  • Humans
  • Mood Disorders - genetics
  • Phylogeny
  • Physiological aspects
  • Receptors, Vasopressin - genetics
  • Research
  • Research Article
  • Risk factors
  • Selection, Genetic
  • Sequence Analysis, DNA
  • Settore MED/26 - Neurologia
ispartof: BMC evolutionary biology, 2009-06-01, Vol.9 (1), p.123-123
description: The 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. Here 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. Although 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.
language: eng
source:
identifier: ISSN: 1471-2148
fulltext: no_fulltext
issn:
  • 1471-2148
  • 1471-2148
url: Link


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titleA complex selection signature at the human AVPR1B gene
creatorCagliani, Rachele ; Fumagalli, Matteo ; Pozzoli, Uberto ; Riva, Stefania ; Cereda, Matteo ; Comi, Giacomo P ; Pattini, Linda ; Bresolin, Nereo ; Sironi, Manuela
creatorcontribCagliani, Rachele ; Fumagalli, Matteo ; Pozzoli, Uberto ; Riva, Stefania ; Cereda, Matteo ; Comi, Giacomo P ; Pattini, Linda ; Bresolin, Nereo ; Sironi, Manuela
descriptionThe 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. Here 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. Although 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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subjectAffective disorders ; African Continental Ancestry Group - genetics ; Animals ; Ecology, Evolution, Behavior and Systematics ; European Continental Ancestry Group - genetics ; Evolution ; Evolution, Molecular ; Exons ; Genetic aspects ; Genetic Variation ; Genetics, Population ; Haplotypes ; Hormone receptors ; Humans ; Mood Disorders - genetics ; Phylogeny ; Physiological aspects ; Receptors, Vasopressin - genetics ; Research ; Research Article ; Risk factors ; Selection, Genetic ; Sequence Analysis, DNA ; Settore MED/26 - Neurologia
ispartofBMC evolutionary biology, 2009-06-01, Vol.9 (1), p.123-123
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descriptionThe 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. Here 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. Although 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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1African Continental Ancestry Group - genetics
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4European Continental Ancestry Group - genetics
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6Evolution, Molecular
7Exons
8Genetic aspects
9Genetic Variation
10Genetics, Population
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12Hormone receptors
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8Genetic aspects
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22Sequence Analysis, DNA
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abstractThe 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. Here 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. Although 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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