Mitogenome diversity in Sardinians: a genetic window onto an island's past
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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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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) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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