Great ape genetic diversity and population history

Most great ape genetic variation remains uncharacterized1, 2; however, its study is critical for understanding population history3, 4, 5, 6, recombination7, selection8 and susceptibility to disease9, 10. Here we sequence to high coverage a total of 79 wild- and captive-born individuals representing...

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Autores: Prado Martínez, Javier, 1987-, Lorente-Galdós, Belén, 1981-, Santpere Baró, Gabriel, 1981-, Casals López, Ferran, Laayouni, Hafid, 1968-, Hernández Rodríguez, Jéssica, 1983-, Hernando Herráez, Irene, 1985-, Pybus Oliveras, Marc, 1985-, Petit, Natalia, Fernández Callejo, Marcos, Dabad, Marc, Carvalho, Tiago Loureiro de, 1987-, Melé Messeguer, Marta, 1982-, Comas, David, 1969-, Navarro i Cuartiellas, Arcadi, 1969-, Bertranpetit, Jaume, 1952-, Marquès i Bonet, Tomàs, 1975-
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2013
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/25293
Acceso en línea:http://hdl.handle.net/10230/25293
http://dx.doi.org/10.1038/nature12228
Access Level:acceso abierto
Palabra clave:Evolució (Biologia)
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spelling Great ape genetic diversity and population historyPrado Martínez, Javier, 1987-Lorente-Galdós, Belén, 1981-Santpere Baró, Gabriel, 1981-Casals López, FerranLaayouni, Hafid, 1968-Hernández Rodríguez, Jéssica, 1983-Hernando Herráez, Irene, 1985-Pybus Oliveras, Marc, 1985-Petit, NataliaFernández Callejo, MarcosDabad, MarcCarvalho, Tiago Loureiro de, 1987-Melé Messeguer, Marta, 1982-Comas, David, 1969-Navarro i Cuartiellas, Arcadi, 1969-Bertranpetit, Jaume, 1952-Marquès i Bonet, Tomàs, 1975-Evolució (Biologia)Most great ape genetic variation remains uncharacterized1, 2; however, its study is critical for understanding population history3, 4, 5, 6, recombination7, selection8 and susceptibility to disease9, 10. Here we sequence to high coverage a total of 79 wild- and captive-born individuals representing all six great ape species and seven subspecies and report 88.8 million single nucleotide polymorphisms. Our analysis provides support for genetically distinct populations within each species, signals of gene flow, and the split of common chimpanzees into two distinct groups: Nigeria–Cameroon/western and central/eastern populations. We find extensive inbreeding in almost all wild populations, with eastern gorillas being the most extreme. Inferred effective population sizes have varied radically over time in different lineages and this appears to have a profound effect on the genetic diversity at, or close to, genes in almost all species. We discover and assign 1,982 loss-of-function variants throughout the human and great ape lineages, determining that the rate of gene loss has not been different in the human branch compared to other internal branches in the great ape phylogeny. This comprehensive catalogue of great ape genome diversity provides a framework for understanding evolution and a resource for more effective management of wild and captive great ape populations.We thank the following funding agencies: ERC Starting Grant (260372) to T.M.-B.;NIH grants HG002385 to E.E.E., R01_HG005226 to K.R.V., A.E.W., M.F.H., L.S. and J.D.W., GM100233 and NSF HOMINID grant 1032255 to D.R. and He.Li.;MICINN(Spain)BFU2011-28549toT.M.-B.,BFU2010-19443toJa.Be.,Spanish Government and FEDER for grants BFU2009-13409-C02-02 and BFU2012-38236 to A.N. and J.P.-M., Direcció General de Recerca, Generalitat de Catalunya (Grup de Recerca Consolidat 2009 SGR 1101) to Ja.Be., D.C., A.N. and T.M.-B.; ERC Advanced Grant (233297) and Max Planck Society to S. Paabo; Danish Council for Independent Research Natural Sciences to H.S.; Spanish Grant (CGL-2010-20170) and Zoo de Barcelona (Beca PRIC) to A.R.-H.; EUPRIM-Net to BPRC; DP1ES022577-04 NIH grant to S.A.T.; NSF Grant 0755823 to M.K.G.; P.G. is supported by the G. Harold and Leila Y. Mathers Foundation. A.N. and T.M.-B. are ICREA Research Investigators (Institut Català d’Estudis i Recerca Avançats de la Generalitat de Catalunya).J.P.-M.is supported by the Zoo de Barcelona and l’Ajuntament de Barcelona. P.H.S. is supported by an HHMI International Student Fellowship. E.E.E. is an investigator with the Howard Hughes Medical Institute.Nature Publishing Group201520152013info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/25293http://dx.doi.org/10.1038/nature12228reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésNature. 2013;499:471-5© Nature Publishing Group. 10.1038/nature12228. This work is licensed under a Creative Commons Attribution-NonCommercial-Share Alike 3.0 Unported licence.http://creativecommons.org/licenses/by-nc-sa/3.0info:eu-repo/semantics/openAccessoai:recercat.cat:10230/252932026-05-29T05:05:01Z
dc.title.none.fl_str_mv Great ape genetic diversity and population history
title Great ape genetic diversity and population history
spellingShingle Great ape genetic diversity and population history
Prado Martínez, Javier, 1987-
Evolució (Biologia)
title_short Great ape genetic diversity and population history
title_full Great ape genetic diversity and population history
title_fullStr Great ape genetic diversity and population history
title_full_unstemmed Great ape genetic diversity and population history
title_sort Great ape genetic diversity and population history
dc.creator.none.fl_str_mv Prado Martínez, Javier, 1987-
Lorente-Galdós, Belén, 1981-
Santpere Baró, Gabriel, 1981-
Casals López, Ferran
Laayouni, Hafid, 1968-
Hernández Rodríguez, Jéssica, 1983-
Hernando Herráez, Irene, 1985-
Pybus Oliveras, Marc, 1985-
Petit, Natalia
Fernández Callejo, Marcos
Dabad, Marc
Carvalho, Tiago Loureiro de, 1987-
Melé Messeguer, Marta, 1982-
Comas, David, 1969-
Navarro i Cuartiellas, Arcadi, 1969-
Bertranpetit, Jaume, 1952-
Marquès i Bonet, Tomàs, 1975-
author Prado Martínez, Javier, 1987-
author_facet Prado Martínez, Javier, 1987-
Lorente-Galdós, Belén, 1981-
Santpere Baró, Gabriel, 1981-
Casals López, Ferran
Laayouni, Hafid, 1968-
Hernández Rodríguez, Jéssica, 1983-
Hernando Herráez, Irene, 1985-
Pybus Oliveras, Marc, 1985-
Petit, Natalia
Fernández Callejo, Marcos
Dabad, Marc
Carvalho, Tiago Loureiro de, 1987-
Melé Messeguer, Marta, 1982-
Comas, David, 1969-
Navarro i Cuartiellas, Arcadi, 1969-
Bertranpetit, Jaume, 1952-
Marquès i Bonet, Tomàs, 1975-
author_role author
author2 Lorente-Galdós, Belén, 1981-
Santpere Baró, Gabriel, 1981-
Casals López, Ferran
Laayouni, Hafid, 1968-
Hernández Rodríguez, Jéssica, 1983-
Hernando Herráez, Irene, 1985-
Pybus Oliveras, Marc, 1985-
Petit, Natalia
Fernández Callejo, Marcos
Dabad, Marc
Carvalho, Tiago Loureiro de, 1987-
Melé Messeguer, Marta, 1982-
Comas, David, 1969-
Navarro i Cuartiellas, Arcadi, 1969-
Bertranpetit, Jaume, 1952-
Marquès i Bonet, Tomàs, 1975-
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Evolució (Biologia)
topic Evolució (Biologia)
description Most great ape genetic variation remains uncharacterized1, 2; however, its study is critical for understanding population history3, 4, 5, 6, recombination7, selection8 and susceptibility to disease9, 10. Here we sequence to high coverage a total of 79 wild- and captive-born individuals representing all six great ape species and seven subspecies and report 88.8 million single nucleotide polymorphisms. Our analysis provides support for genetically distinct populations within each species, signals of gene flow, and the split of common chimpanzees into two distinct groups: Nigeria–Cameroon/western and central/eastern populations. We find extensive inbreeding in almost all wild populations, with eastern gorillas being the most extreme. Inferred effective population sizes have varied radically over time in different lineages and this appears to have a profound effect on the genetic diversity at, or close to, genes in almost all species. We discover and assign 1,982 loss-of-function variants throughout the human and great ape lineages, determining that the rate of gene loss has not been different in the human branch compared to other internal branches in the great ape phylogeny. This comprehensive catalogue of great ape genome diversity provides a framework for understanding evolution and a resource for more effective management of wild and captive great ape populations.
publishDate 2013
dc.date.none.fl_str_mv 2013
2015
2015
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
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dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/25293
http://dx.doi.org/10.1038/nature12228
url http://hdl.handle.net/10230/25293
http://dx.doi.org/10.1038/nature12228
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Nature. 2013;499:471-5
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by-nc-sa/3.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-sa/3.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
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dc.publisher.none.fl_str_mv Nature Publishing Group
publisher.none.fl_str_mv Nature Publishing Group
dc.source.none.fl_str_mv reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
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