Signatures of selection in the human olfactory receptor OR5I1 gene

The human olfactory receptor repertoire is reduced in comparison to other mammals/nand to other non-human primates. Nonetheless, this olfactory decline opens an opportunity for/nevolutionary innovation and improvement. In the present study, we focus on an olfactory/nreceptor gene, OR5I1, which had p...

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Autores: Moreno Estrada, Andrés, Casals López, Ferran, Ramírez Soriano, Anna, Oliva Miguel, Baldomero, Calafell i Majó, Francesc, Bertranpetit, Jaume, 1952-, Bosch Fusté, Elena
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2008
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/12422
Acceso en línea:http://hdl.handle.net/10230/12422
http://dx.doi.org/10.1093/molbev/msm240
Access Level:acceso abierto
Palabra clave:Genètica humana -- Variació
Selecció natural
Olfactory receptors
Single nucleotide polymorphisms
Human variation
Positive selection
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spelling Signatures of selection in the human olfactory receptor OR5I1 geneMoreno Estrada, AndrésCasals López, FerranRamírez Soriano, AnnaOliva Miguel, BaldomeroCalafell i Majó, FrancescBertranpetit, Jaume, 1952-Bosch Fusté, ElenaGenètica humana -- VariacióSelecció naturalOlfactory receptorsSingle nucleotide polymorphismsHuman variationPositive selectionThe human olfactory receptor repertoire is reduced in comparison to other mammals/nand to other non-human primates. Nonetheless, this olfactory decline opens an opportunity for/nevolutionary innovation and improvement. In the present study, we focus on an olfactory/nreceptor gene, OR5I1, which had previously been shown to present an excess of amino acid/nreplacement substitutions between humans and chimpanzees. We analyze the genetic/nvariation in OR5I1 in a large worldwide human panel and find an excess of derived alleles/nsegregating at relatively high frequencies in all populations. Additional evidence for selection/nincludes departures from neutrality in allele frequency spectra tests but no unusually extended/nhaplotype structure. Moreover, molecular structural inference suggests that one of the/nnonsynonymous polymorphisms defining the presumably adaptive protein form of OR5I1/nmay alter the functional binding properties of the olfactory receptor. These results are/ncompatible with positive selection having modeled the pattern of variation found in the OR5I1/ngene and with a relatively ancient, mild selective sweep predating the “Out of Africa”/nexpansion of modern humans.Oxford University Press201120112008info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/12422http://dx.doi.org/10.1093/molbev/msm240reponame:Repositorio Digital de la UPFinstname:Universitat Pompeu FabraInglésMolecular Biology and Evolution. 2008;25(1):144-54© Oxford University Press.info:eu-repo/semantics/openAccessoai:repositori.upf.edu:10230/124222026-06-12T07:21:37Z
dc.title.none.fl_str_mv Signatures of selection in the human olfactory receptor OR5I1 gene
title Signatures of selection in the human olfactory receptor OR5I1 gene
spellingShingle Signatures of selection in the human olfactory receptor OR5I1 gene
Moreno Estrada, Andrés
Genètica humana -- Variació
Selecció natural
Olfactory receptors
Single nucleotide polymorphisms
Human variation
Positive selection
title_short Signatures of selection in the human olfactory receptor OR5I1 gene
title_full Signatures of selection in the human olfactory receptor OR5I1 gene
title_fullStr Signatures of selection in the human olfactory receptor OR5I1 gene
title_full_unstemmed Signatures of selection in the human olfactory receptor OR5I1 gene
title_sort Signatures of selection in the human olfactory receptor OR5I1 gene
dc.creator.none.fl_str_mv Moreno Estrada, Andrés
Casals López, Ferran
Ramírez Soriano, Anna
Oliva Miguel, Baldomero
Calafell i Majó, Francesc
Bertranpetit, Jaume, 1952-
Bosch Fusté, Elena
author Moreno Estrada, Andrés
author_facet Moreno Estrada, Andrés
Casals López, Ferran
Ramírez Soriano, Anna
Oliva Miguel, Baldomero
Calafell i Majó, Francesc
Bertranpetit, Jaume, 1952-
Bosch Fusté, Elena
author_role author
author2 Casals López, Ferran
Ramírez Soriano, Anna
Oliva Miguel, Baldomero
Calafell i Majó, Francesc
Bertranpetit, Jaume, 1952-
Bosch Fusté, Elena
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Genètica humana -- Variació
Selecció natural
Olfactory receptors
Single nucleotide polymorphisms
Human variation
Positive selection
topic Genètica humana -- Variació
Selecció natural
Olfactory receptors
Single nucleotide polymorphisms
Human variation
Positive selection
description The human olfactory receptor repertoire is reduced in comparison to other mammals/nand to other non-human primates. Nonetheless, this olfactory decline opens an opportunity for/nevolutionary innovation and improvement. In the present study, we focus on an olfactory/nreceptor gene, OR5I1, which had previously been shown to present an excess of amino acid/nreplacement substitutions between humans and chimpanzees. We analyze the genetic/nvariation in OR5I1 in a large worldwide human panel and find an excess of derived alleles/nsegregating at relatively high frequencies in all populations. Additional evidence for selection/nincludes departures from neutrality in allele frequency spectra tests but no unusually extended/nhaplotype structure. Moreover, molecular structural inference suggests that one of the/nnonsynonymous polymorphisms defining the presumably adaptive protein form of OR5I1/nmay alter the functional binding properties of the olfactory receptor. These results are/ncompatible with positive selection having modeled the pattern of variation found in the OR5I1/ngene and with a relatively ancient, mild selective sweep predating the “Out of Africa”/nexpansion of modern humans.
publishDate 2008
dc.date.none.fl_str_mv 2008
2011
2011
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/acceptedVersion
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/12422
http://dx.doi.org/10.1093/molbev/msm240
url http://hdl.handle.net/10230/12422
http://dx.doi.org/10.1093/molbev/msm240
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Molecular Biology and Evolution. 2008;25(1):144-54
dc.rights.none.fl_str_mv © Oxford University Press.
info:eu-repo/semantics/openAccess
rights_invalid_str_mv © Oxford University Press.
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Oxford University Press
publisher.none.fl_str_mv Oxford University Press
dc.source.none.fl_str_mv reponame:Repositorio Digital de la UPF
instname:Universitat Pompeu Fabra
instname_str Universitat Pompeu Fabra
reponame_str Repositorio Digital de la UPF
collection Repositorio Digital de la UPF
repository.name.fl_str_mv
repository.mail.fl_str_mv
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