Mitogenome diversity in Sardinians: a genetic window onto an island's past

Detalhes bibliográficos
Autor(a) principal: Olivieri, Anna
Data de Publicação: 2017
Outros Autores: Sidore, Carlo, Achilli, Alessandro, Angius, Andrea, Posth, Cosimo, Furtwängler, Anja, Brandini, Stefania, Capodiferro, Marco Rosario, Gandini, Francesca, Zoledziewska, Magdalena, Pitzalis, Maristella, Maschio, Andrea, Busonero, Fabio, Lai, Luca, Skeates, Robin, Gradoli, Maria Giuseppina, Beckett, Jessica, Marongiu, Michele, Mazzarello, Vittorio, Marongiu, Patrizia, Rubino, Salvatore, Rito, Teresa S., Macaulay, Vincent, Semino, Ornella, Pala, Maria, Abecasis, Gonçalo R., Schlessinger, David, Conde-Sousa, Eduardo, Soares, Pedro, Richards, Martin B., Cucca, Francesco, Torroni, Antonio
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/1822/49094
Resumo: Sardinians are "outliers" in the European genetic landscape and, according to paleogenomic nuclear data, the closest to early European Neolithic farmers. To learn more about their genetic ancestry, we analyzed 3,491 modern and 21 ancient mitogenomes from Sardinia. We observed that 78.4% of modern mitogenomes cluster into 89 haplogroups that most likely arose in situ. For each Sardinian-specific haplogroup (SSH), we also identified the upstream node in the phylogeny, from which non-Sardinian mitogenomes radiate. This provided minimum and maximum time estimates for the presence of each SSH on the island. In agreement with demographic evidence, almost all SSHs coalesce in the post-Nuragic, Nuragic and Neolithic-Copper Age periods. For some rare SSHs, however, we could not dismiss the possibility that they might have been on the island prior to the Neolithic, a scenario that would be in agreement with archeological evidence of a Mesolithic occupation of Sardinia.
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spelling Mitogenome diversity in Sardinians: a genetic window onto an island's pastMitochondrial genomesMitochondrial DNA phylogenyHaplogroupsPrehistory of SardiniaOrigins of EuropeansCiências Agrárias::Biotecnologia Agrária e AlimentarCiências Médicas::Biotecnologia MédicaScience & TechnologySardinians are "outliers" in the European genetic landscape and, according to paleogenomic nuclear data, the closest to early European Neolithic farmers. To learn more about their genetic ancestry, we analyzed 3,491 modern and 21 ancient mitogenomes from Sardinia. We observed that 78.4% of modern mitogenomes cluster into 89 haplogroups that most likely arose in situ. For each Sardinian-specific haplogroup (SSH), we also identified the upstream node in the phylogeny, from which non-Sardinian mitogenomes radiate. This provided minimum and maximum time estimates for the presence of each SSH on the island. In agreement with demographic evidence, almost all SSHs coalesce in the post-Nuragic, Nuragic and Neolithic-Copper Age periods. For some rare SSHs, however, we could not dismiss the possibility that they might have been on the island prior to the Neolithic, a scenario that would be in agreement with archeological evidence of a Mesolithic occupation of Sardinia.This study received support from the University of Pavia strategic theme “Towards a governance model for international migration: an interdisciplinary and diachronic perspective” (MIGRAT-IN-G) (to A.O., A.A., O.S., A.T.), the British Academy Research Development Award n. 53097 (to R.S.), the Italian Ministry of Education, University and Research: Progetti Futuro in Ricerca 2012 (RBFR126B8I) (to A.O. and A.A.) and Progetti Ricerca Interesse Nazionale 2012 (to A.A., O.S. and A.T.). The sequencing data reported in the study were supported by the National Human Genome Research Institute grants HG005581, HG005552, HG006513, HG007022, and HG007089; the National Heart Lung and Blood Institute grant HL117626; the Intramural Research Program of the NIH, National Institute on Aging, with contracts N01-AG-1-2109 and HHSN271201100005C; the Sardinian Autonomous Region (L.R. no. 7/2009) grant cRP3-154. P.S. was supported by FCT, ESF and POPH through the FCT Investigator Programme (IF/01641/2013). P.S. and E.C.-S. acknowledge FCT IP and ERDF (COMPETE2020 – POCI) for the CBMA programme UID/BIA/04050/2013 (POCI-01-0145-FEDER-007569). T.R. was supported by an FCT grant (SFRH/BPD/108126/2015). M.P., P.S. and M.B.R. acknowledge FCT support through project PTDC/EPH-ARQ/4164/2014 partially funded by FEDER funds (COMPETE 2020 project 016899). M.B.R. received support from a Leverhulme Doctoral Scholarship programme. C.P. was supported by the Baden Württemberg Foundation and the Max Planck Society. The sequence data for the modern (N = 2,136) and ancient (N = 21) Sardinian mitogenomes are available in GenBank with accession numbers KY408145−KY410236, KY399164−KY399207, and KY399143−KY399163info:eu-repo/semantics/publishedVersionOxford University PressUniversidade do MinhoOlivieri, AnnaSidore, CarloAchilli, AlessandroAngius, AndreaPosth, CosimoFurtwängler, AnjaBrandini, StefaniaCapodiferro, Marco RosarioGandini, FrancescaZoledziewska, MagdalenaPitzalis, MaristellaMaschio, AndreaBusonero, FabioLai, LucaSkeates, RobinGradoli, Maria GiuseppinaBeckett, JessicaMarongiu, MicheleMazzarello, VittorioMarongiu, PatriziaRubino, SalvatoreRito, Teresa S.Macaulay, VincentSemino, OrnellaPala, MariaAbecasis, Gonçalo R.Schlessinger, DavidConde-Sousa, EduardoSoares, PedroRichards, Martin B.Cucca, FrancescoTorroni, Antonio2017-05-012017-05-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/49094engOlivieri, A., Sidore, C., Achilli, A., Angius, A., Posth, C., Furtwängler, A., et. al. (2017). Mitogenome diversity in Sardinians: a genetic window onto an island's past. Molecular biology and evolution, 34(5), 1230-12390737-403810.1093/molbev/msx08228177087https://academic.oup.com/mbe/article/34/5/1230/2977388info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-21T12:09:48Zoai:repositorium.sdum.uminho.pt:1822/49094Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:01:19.672524Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Mitogenome diversity in Sardinians: a genetic window onto an island's past
title Mitogenome diversity in Sardinians: a genetic window onto an island's past
spellingShingle Mitogenome diversity in Sardinians: a genetic window onto an island's past
Olivieri, Anna
Mitochondrial genomes
Mitochondrial DNA phylogeny
Haplogroups
Prehistory of Sardinia
Origins of Europeans
Ciências Agrárias::Biotecnologia Agrária e Alimentar
Ciências Médicas::Biotecnologia Médica
Science & Technology
title_short Mitogenome diversity in Sardinians: a genetic window onto an island's past
title_full Mitogenome diversity in Sardinians: a genetic window onto an island's past
title_fullStr Mitogenome diversity in Sardinians: a genetic window onto an island's past
title_full_unstemmed Mitogenome diversity in Sardinians: a genetic window onto an island's past
title_sort Mitogenome diversity in Sardinians: a genetic window onto an island's past
author Olivieri, Anna
author_facet Olivieri, Anna
Sidore, Carlo
Achilli, Alessandro
Angius, Andrea
Posth, Cosimo
Furtwängler, Anja
Brandini, Stefania
Capodiferro, Marco Rosario
Gandini, Francesca
Zoledziewska, Magdalena
Pitzalis, Maristella
Maschio, Andrea
Busonero, Fabio
Lai, Luca
Skeates, Robin
Gradoli, Maria Giuseppina
Beckett, Jessica
Marongiu, Michele
Mazzarello, Vittorio
Marongiu, Patrizia
Rubino, Salvatore
Rito, Teresa S.
Macaulay, Vincent
Semino, Ornella
Pala, Maria
Abecasis, Gonçalo R.
Schlessinger, David
Conde-Sousa, Eduardo
Soares, Pedro
Richards, Martin B.
Cucca, Francesco
Torroni, Antonio
author_role author
author2 Sidore, Carlo
Achilli, Alessandro
Angius, Andrea
Posth, Cosimo
Furtwängler, Anja
Brandini, Stefania
Capodiferro, Marco Rosario
Gandini, Francesca
Zoledziewska, Magdalena
Pitzalis, Maristella
Maschio, Andrea
Busonero, Fabio
Lai, Luca
Skeates, Robin
Gradoli, Maria Giuseppina
Beckett, Jessica
Marongiu, Michele
Mazzarello, Vittorio
Marongiu, Patrizia
Rubino, Salvatore
Rito, Teresa S.
Macaulay, Vincent
Semino, Ornella
Pala, Maria
Abecasis, Gonçalo R.
Schlessinger, David
Conde-Sousa, Eduardo
Soares, Pedro
Richards, Martin B.
Cucca, Francesco
Torroni, Antonio
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade do Minho
dc.contributor.author.fl_str_mv Olivieri, Anna
Sidore, Carlo
Achilli, Alessandro
Angius, Andrea
Posth, Cosimo
Furtwängler, Anja
Brandini, Stefania
Capodiferro, Marco Rosario
Gandini, Francesca
Zoledziewska, Magdalena
Pitzalis, Maristella
Maschio, Andrea
Busonero, Fabio
Lai, Luca
Skeates, Robin
Gradoli, Maria Giuseppina
Beckett, Jessica
Marongiu, Michele
Mazzarello, Vittorio
Marongiu, Patrizia
Rubino, Salvatore
Rito, Teresa S.
Macaulay, Vincent
Semino, Ornella
Pala, Maria
Abecasis, Gonçalo R.
Schlessinger, David
Conde-Sousa, Eduardo
Soares, Pedro
Richards, Martin B.
Cucca, Francesco
Torroni, Antonio
dc.subject.por.fl_str_mv Mitochondrial genomes
Mitochondrial DNA phylogeny
Haplogroups
Prehistory of Sardinia
Origins of Europeans
Ciências Agrárias::Biotecnologia Agrária e Alimentar
Ciências Médicas::Biotecnologia Médica
Science & Technology
topic Mitochondrial genomes
Mitochondrial DNA phylogeny
Haplogroups
Prehistory of Sardinia
Origins of Europeans
Ciências Agrárias::Biotecnologia Agrária e Alimentar
Ciências Médicas::Biotecnologia Médica
Science & Technology
description Sardinians are "outliers" in the European genetic landscape and, according to paleogenomic nuclear data, the closest to early European Neolithic farmers. To learn more about their genetic ancestry, we analyzed 3,491 modern and 21 ancient mitogenomes from Sardinia. We observed that 78.4% of modern mitogenomes cluster into 89 haplogroups that most likely arose in situ. For each Sardinian-specific haplogroup (SSH), we also identified the upstream node in the phylogeny, from which non-Sardinian mitogenomes radiate. This provided minimum and maximum time estimates for the presence of each SSH on the island. In agreement with demographic evidence, almost all SSHs coalesce in the post-Nuragic, Nuragic and Neolithic-Copper Age periods. For some rare SSHs, however, we could not dismiss the possibility that they might have been on the island prior to the Neolithic, a scenario that would be in agreement with archeological evidence of a Mesolithic occupation of Sardinia.
publishDate 2017
dc.date.none.fl_str_mv 2017-05-01
2017-05-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/1822/49094
url http://hdl.handle.net/1822/49094
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Olivieri, A., Sidore, C., Achilli, A., Angius, A., Posth, C., Furtwängler, A., et. al. (2017). Mitogenome diversity in Sardinians: a genetic window onto an island's past. Molecular biology and evolution, 34(5), 1230-1239
0737-4038
10.1093/molbev/msx082
28177087
https://academic.oup.com/mbe/article/34/5/1230/2977388
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 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:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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