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A complex selection signature at the human AVPR1B gene.(Research article)(Arginine vasopressin receptor 1A)(Report)

Background 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 di... Full description

Journal Title: BMC Evolutionary Biology June 1, 2009, Vol.9, p.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:
Quelle: Cengage Learning, Inc.
ID: ISSN: 1471-2148
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recordid: gale_ofa202267197
title: A complex selection signature at the human AVPR1B gene.(Research article)(Arginine vasopressin receptor 1A)(Report)
format: Article
creator:
  • Cagliani, Rachele
  • Fumagalli, Matteo
  • Pozzoli, Uberto
  • Riva, Stefania
  • Cereda, Matteo
  • Comi, Giacomo P.
  • Pattini, Linda
  • Bresolin, Nereo
  • Sironi, Manuela
subjects:
  • Molecular Evolution -- Research
  • Hormone Receptors -- Physiological Aspects
  • Hormone Receptors -- Genetic Aspects
  • Hormone Receptors -- Research
  • Mood Disorders -- Risk Factors
  • Mood Disorders -- Genetic Aspects
  • Mood Disorders -- Research
ispartof: BMC Evolutionary Biology, June 1, 2009, Vol.9, p.123
description: Background 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. Results 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. Conclusion 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: English
source: Cengage Learning, Inc.
identifier: ISSN: 1471-2148
fulltext: fulltext
issn:
  • 1471-2148
  • 14712148
url: Link


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titleA complex selection signature at the human AVPR1B gene.(Research article)(Arginine vasopressin receptor 1A)(Report)
creatorCagliani, Rachele ; Fumagalli, Matteo ; Pozzoli, Uberto ; Riva, Stefania ; Cereda, Matteo ; Comi, Giacomo P. ; Pattini, Linda ; Bresolin, Nereo ; Sironi, Manuela
ispartofBMC Evolutionary Biology, June 1, 2009, Vol.9, p.123
identifierISSN: 1471-2148
subjectMolecular Evolution -- Research ; Hormone Receptors -- Physiological Aspects ; Hormone Receptors -- Genetic Aspects ; Hormone Receptors -- Research ; Mood Disorders -- Risk Factors ; Mood Disorders -- Genetic Aspects ; Mood Disorders -- Research
descriptionBackground 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. Results 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. Conclusion 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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titleA complex selection signature at the human AVPR1B gene.(Research article)(Arginine vasopressin receptor 1A)(Report)
descriptionBackground 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. Results 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. Conclusion 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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abstractBackground 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. Results 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. Conclusion 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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