Population Genomic Analysis of Ancient and Modern Genomes Yields New Insights into the Genetic Ancestry of the Tyrolean Iceman and the Genetic Structure of Europe

Genome sequencing of the 5,300-year-old mummy of the Tyrolean Iceman, found in 1991 on a glacier near the border of Italy and Austria, has yielded new insights into his origin and relationship to modern European populations. A key finding of that study was an apparent recent common ancestry with ind...

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Veröffentlicht in:PLoS genetics Jg. 10; H. 5; S. e1004353
Hauptverfasser: Sikora, Martin, Carpenter, Meredith L., Moreno-Estrada, Andres, Henn, Brenna M., Underhill, Peter A., Sánchez-Quinto, Federico, Zara, Ilenia, Pitzalis, Maristella, Sidore, Carlo, Busonero, Fabio, Maschio, Andrea, Angius, Andrea, Jones, Chris, Mendoza-Revilla, Javier, Nekhrizov, Georgi, Dimitrova, Diana, Theodossiev, Nikola, Harkins, Timothy T., Keller, Andreas, Maixner, Frank, Zink, Albert, Abecasis, Goncalo, Sanna, Serena, Cucca, Francesco, Bustamante, Carlos D.
Format: Journal Article
Sprache:Englisch
Veröffentlicht: United States Public Library of Science 01.05.2014
Public Library of Science (PLoS)
Schlagworte:
Biology and Life Sciences
Deoxyribonucleic acid
DNA
DNA sequencing
Europe
Female
Fossils
Genealogy
Genetic aspects
Genetic research
Genetics, Population
Genome, Human
Genomes
Genomics
Geological research
Humans
Hypotheses
Mean square errors
Mitochondrial DNA
Mummies
Natural history
Nucleotide sequencing
Polymorphism, Single Nucleotide
Population
Population genetics
Principal components analysis
Social Sciences
Studies
Europe
ISSN:1553-7404, 1553-7390, 1553-7404
Online-Zugang:Volltext
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Zusammenfassung:Genome sequencing of the 5,300-year-old mummy of the Tyrolean Iceman, found in 1991 on a glacier near the border of Italy and Austria, has yielded new insights into his origin and relationship to modern European populations. A key finding of that study was an apparent recent common ancestry with individuals from Sardinia, based largely on the Y chromosome haplogroup and common autosomal SNP variation. Here, we compiled and analyzed genomic datasets from both modern and ancient Europeans, including genome sequence data from over 400 Sardinians and two ancient Thracians from Bulgaria, to investigate this result in greater detail and determine its implications for the genetic structure of Neolithic Europe. Using whole-genome sequencing data, we confirm that the Iceman is, indeed, most closely related to Sardinians. Furthermore, we show that this relationship extends to other individuals from cultural contexts associated with the spread of agriculture during the Neolithic transition, in contrast to individuals from a hunter-gatherer context. We hypothesize that this genetic affinity of ancient samples from different parts of Europe with Sardinians represents a common genetic component that was geographically widespread across Europe during the Neolithic, likely related to migrations and population expansions associated with the spread of agriculture.
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Conceived and designed the experiments: MS TTH AK AZ GA SS FC CDB BMH PAU. Performed the experiments: MLC IZ MP CS FB AM AA CJ. Analyzed the data: MS MLC AME FSQ IZ JMR. Contributed reagents/materials/analysis tools: FSQ IZ MP CS FB AM AA CJ GN DD NT FM. Wrote the paper: MS BMH PAU CDB.
The authors have declared that no competing interests exist.
Current address: Department of Ecology and Evolution, Stony Brook University, Stony Brook, New York, United States of America
ISSN:1553-7404
1553-7390
1553-7404
DOI:10.1371/journal.pgen.1004353