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

Marcus, J. H., Posth, C., Ringbauer, H., Lai, L., Skeates, R., Sidore, C., et al. (2019). Population history from the Neolithic to present on the Mediterranean island of Sardinia: an ancient DNA perspective. bioRxiv, 583104, 1-26. doi:10.1101/583104.

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Marcus, Joseph H., Author
Posth, Cosimo1, Author              
Ringbauer, Harald, Author
Lai, Luca, Author
Skeates, Robin, Author
Sidore, Carlo, Author
Beckett, Jessica, Author
Furtwängler, Anja, Author
Olivieri, Anna, Author
Chiang, Charleston, Author
Al-Asadi, Hussein, Author
Dey, Kushal, Author
Joseph, Tyler A., Author
Der Sarkissian, Clio, Author
Radzeviciute, Rita2, Author              
Gradoli, Maria Giuseppina, Author
Haak, Wolfgang1, Author              
Reich, David, Author
Schlessinger, David, Author
Cucca, Francesco, Author
Krause, Johannes1, Author              Novembre, John, Author more..
1Archaeogenetics, Max Planck Institute for the Science of Human History, Max Planck Society, ou_2074310              
2Archaeology, Max Planck Institute for the Science of Human History, Max Planck Society, ou_2074312              


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


Language(s): eng - English
 Dates: 2019-03-21
 Publication Status: Published online
 Pages: 26
 Publishing info: -
 Table of Contents: Introduction
- Ancient DNA from Sardinia
- Uniparentally inherited markers
- Results from genome-wide aDNA
- Similarity to western mainland Neolithic populations
- Constancy of Western Hunter Gatherer ancestry
- Continuity from the Sardinian Neolithic through the Nuragic
- From the Nuragic to present-day Sardinia
- Fine-scale structure in contemporary Sardinia
Materials and Methods
- Archaeological sampling
- Initial sample screening and sequencing
- Merging newly generated data with published data
- Principal Components Analysis
- ADMIXTURE Analysis
- Estimation of f-statistics
- Estimation of FST -coefficients
- Estimation of admixture proportions with qpAdm
- Inference of Y haplogroups
 Rev. Type: No review
 Identifiers: DOI: 10.1101/583104
Other: shh2330
 Degree: -



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Title: bioRxiv
Source Genre: Web Page
Publ. Info: -
Pages: - Volume / Issue: - Sequence Number: 583104 Start / End Page: 1 - 26 Identifier: URI: https://www.biorxiv.org/