Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past

Olivieri, Anna; Sidore, Carlo; Achilli, Alessandro; Angius, Andrea; Posth, Cosimo; Furtwängler, Anja; Brandini, Stefania; Capodiferro, Marco Rosario; Gandini, Francesca; Żołędziewska, Magdalena; Pitzalis, Maristella; Maschio, Andrea; Busonero, Fabio; Lai, Luca; Skeates, Robin; Gradoli, Maria Giuseppina; Beckett, Jessica; Marongiu, Michele; Mazzarello, Vittorio; Marongiu, P.; Rubino, Salvatore; Rito, Teresa; Macaulay, Vincent; Semino, Ornella; Pala, Maria; Abecasis, Gonçalo R.; Schlessinger, David; Conde-Sousa, Eduardo; Soares, Pedro; Richards, Martin B.; Cucca, Francesco; Torroni, Antonio

doi:10.1093/molbev/msx082

Cited by 66 publications

(74 citation statements)

References 39 publications

(53 reference statements)

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“…Mat. 1E), including a subset ( n = 10) previously reported by O livieri et al (2017). We confirm the observation that ancient Sardinian mtDNA haplotypes belong almost exclusively to macro-haplogroups HV ( n = 16), JT ( n = 17) and U ( n = 9), a composition broadly similar to other European Neolithic populations.…”

Section: Resultssupporting

confidence: 89%

“…M odi et al (2017) provided the first complete mitogenomes of two Mesolithic individuals and found support for a model in which Mesolithic ancestry on the island was replaced by incoming populations in the Neolithic. O livieri et al (2017), in a companion project to the work described here, analyzed 21 ancient mitogenomes from Sardina as well as 3,491 mitogenomes from contemporary Sardinians and estimated the coalescent times of Sardinian-specific mtDNA haplogroups finding support for most of them originating in the Neolithic or later, but with a few coalescing earlier. Finally, M atisoo -S mith et al (2018) analyzed mitogenomes in a Phoenician colony on Sardinia and found evidence of continuity and exchange between the colony and broader Sardinia.…”

Section: Introductionmentioning

confidence: 99%

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Population history from the Neolithic to present on the Mediterranean island of Sardinia: An ancient DNA perspective

Marcus

Posth

Ringbauer

et al. 2019

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34Recent ancient DNA studies of western Eurasia have revealed a dynamic history of admixture, 35 with evidence for major migrations during the Neolithic and Bronze Age. The population of the 36 Mediterranean island of Sardinia has been notable in these studies -Neolithic individuals from 37 mainland Europe cluster more closely with Sardinian individuals than with all other present-day 38 Europeans. The current model to explain this result is that Sardinia received an initial influx 39 of Neolithic ancestry and then remained relatively isolated from expansions in the later Ne-40 olithic and Bronze Age that took place in continental Europe. To test this model, we generated 41 genome-wide capture data (approximately 1.2 million variants) for 43 ancient Sardinian individu-42 als spanning the Neolithic through the Bronze Age, including individuals from Sardinia's Nuragic 43 culture, which is known for the construction of numerous large stone towers throughout the is-44 land. We analyze these new samples in the context of previously generated genome-wide ancient 45 DNA data from 972 ancient individuals across western Eurasia and whole-genome sequence data 46 from approximately 1,500 modern individuals from Sardinia. The ancient Sardinian individuals 47 show a strong affinity to western Mediterranean Neolithic populations and we infer a high degree 48of genetic continuity on the island from the Neolithic (around fifth millennium BCE) through 49 the Nuragic period (second millennium BCE). In particular, during the Bronze Age in Sardinia, 50 we do not find significant levels of the "Steppe" ancestry that was spreading in many other parts 51 of Europe at that time. We also characterize subsequent genetic influx between the Nuragic 52 period and the present. We detect novel, modest signals of admixture between 1,000 BCE and 53 present-day, from ancestry sources in the eastern and northern Mediterranean. Within Sardinia, 54 we confirm that populations from the more geographically isolated mountainous provinces have 55 experienced elevated levels of genetic drift and that northern and southwestern regions of the 56 island received more gene flow from outside Sardinia. Overall, our genetic analysis sheds new 57 light on the origin of Neolithic settlement on Sardinia, reinforces models of genetic continuity on 58 the island, and provides enhanced power to detect post-Bronze-Age gene flow. Together, these 59 findings offer a refined demographic model for future medical genetic studies in Sardinia.60

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Section: Resultssupporting

confidence: 89%

Section: Introductionmentioning

confidence: 99%

Population history from the Neolithic to present on the Mediterranean island of Sardinia: An ancient DNA perspective

Marcus

Posth

Ringbauer

et al. 2019

Preprint

Self Cite

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“…It is expected that, future analyses based on extensive samplings (e.g., ref. [49]), genome-wide genetic markers (e.g., ref. [46]), even together with ancient DNAs (e.g., ref.…”

Section: Discussionmentioning

confidence: 99%

“…[46]), even together with ancient DNAs (e.g., ref. [49]), will provide more details about the admixture history in the Pamirs.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial genomes uncover the maternal history of the Pamir populations

Peng

Song

et al. 2017

Eur J Hum Genet

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The Pamirs, among the world's highest mountains in Central Asia, are one of homelands with the most extreme high altitude for several ethnic groups. The settlement history of modern humans on the Pamirs remains still opaque. Herein, we have sequenced the mitochondrial DNA (mtDNA) genomes of 382 individuals belonging to eight populations from the Pamirs and the surrounding lowlands in Central Asia. We construct the Central Asian (including both highlanders and lowlanders) mtDNA haplogroup tree at the highest resolution. All the matrilineal components are assigned into the defined mtDNA haplogroups in East and West Eurasians. No basal lineages that directly emanate from the Eurasian founder macrohaplogroups M, N, and R are found. Our data support the origin of Central Asian being the result of East-West Eurasian admixture. The coalescence ages for more than 93% mtDNA lineages in Central Asians are dated after the last glacial maximum (LGM). The post-LGM and/or later dispersals/admixtures play dominant roles in shaping the maternal gene pool of Central Asians. More importantly, our analyses reveal the mtDNA heterogeneity in the Pamir highlanders, not only between the Turkic Kyrgyz and the Indo-European Tajik groups, but also among three highland Tajiks. No evidence supports positive selection or relaxation of selective constraints in the mtDNAs of highlanders as compared to that of lowlanders. Our results suggest a complex history for the peopling of Pamirs by multiple waves of migrations from various genetic resources during different time scales.

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“…Modi et al 35 sequenced mitogenomes of two Mesolithic individuals and found support for a model of population replacement in the Neolithic. Olivieri et al 36 analyzed 21 ancient mitogenomes from Sardinia and estimated the coalescent times of Sardinianspecific mtDNA haplogroups, finding support for most of them originating in the Neolithic or later, but with a few coalescing earlier. Finally, Matisoo-Smith et al 37 analyzed mitogenomes in a Phoenician settlement on Sardinia and inferred continuity and exchange between the Phoenician population and broader Sardinia.…”

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confidence: 99%

Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia

et al. 2020

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The island of Sardinia has been of particular interest to geneticists for decades. The current model for Sardinia's genetic history describes the island as harboring a founder population that was established largely from the Neolithic peoples of southern Europe and remained isolated from later Bronze Age expansions on the mainland. To evaluate this model, we generate genome-wide ancient DNA data for 70 individuals from 21 Sardinian archaeological sites spanning the Middle Neolithic through the Medieval period. The earliest individuals show a strong affinity to western Mediterranean Neolithic populations, followed by an extended period of genetic continuity on the island through the Nuragic period (second millennium BCE). Beginning with individuals from Phoenician/Punic sites (first millennium BCE), we observe spatially-varying signals of admixture with sources principally from the eastern and northern Mediterranean. Overall, our analysis sheds light on the genetic history of Sardinia, revealing how relationships to mainland populations shifted over time.

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Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past

Cited by 66 publications

References 39 publications

Population history from the Neolithic to present on the Mediterranean island of Sardinia: An ancient DNA perspective

Population history from the Neolithic to present on the Mediterranean island of Sardinia: An ancient DNA perspective

Mitochondrial genomes uncover the maternal history of the Pamir populations

Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia

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