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Research Article

Separating endogenous ancient DNA from modern day contamination in a Siberian Neandertal

Pontus Skoglund, Bernd H. Northoff, Michael V. Shunkov, Anatoli P. Derevianko, Svante Pääbo, Johannes Krause, and Mattias Jakobsson
PNAS February 11, 2014 111 (6) 2229-2234; https://doi.org/10.1073/pnas.1318934111
Pontus Skoglund
aDepartment of Evolutionary Biology and
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  • For correspondence: pontus.skoglund@gmail.com
Bernd H. Northoff
bDepartment of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany;
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Michael V. Shunkov
cPalaeolithic Department, Institute of Archaeology and Ethnography, Russian Academy of Sciences Siberian Branch, Novosibirsk 630090, Russia; and
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Anatoli P. Derevianko
cPalaeolithic Department, Institute of Archaeology and Ethnography, Russian Academy of Sciences Siberian Branch, Novosibirsk 630090, Russia; and
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Svante Pääbo
bDepartment of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany;
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Johannes Krause
bDepartment of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany;
dInstitute for Archaeological Sciences, University of Tuebingen, 72070 Tuebingen, Germany
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Mattias Jakobsson
aDepartment of Evolutionary Biology and
eScience for Life Laboratory, Uppsala University, 75236 Uppsala, Sweden;
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  1. Edited by Richard G. Klein, Stanford University, Stanford, CA, and approved December 27, 2013 (received for review October 9, 2013)

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Significance

Strict laboratory precautions against present day human DNA contamination are standard in ancient DNA studies, but contamination is already present inside many ancient human fossils from previous handling without specific precautions. We designed a statistical framework to isolate endogenous ancient DNA sequences from contaminating sequences using postmortem degradation patterns and were able to reduce high-contamination fractions to negligible levels. We captured DNA sequences from a contaminated Neandertal bone from Okladnikov Cave in Siberia and used our method to assemble its mitochondrial genome sequence, which we find to be from a lineage basal to five of six previously published complete Neandertal mitochondrial genomes. Our method paves the way for the large-scale genetic analysis of contaminated human remains.

Abstract

One of the main impediments for obtaining DNA sequences from ancient human skeletons is the presence of contaminating modern human DNA molecules in many fossil samples and laboratory reagents. However, DNA fragments isolated from ancient specimens show a characteristic DNA damage pattern caused by miscoding lesions that differs from present day DNA sequences. Here, we develop a framework for evaluating the likelihood of a sequence originating from a model with postmortem degradation—summarized in a postmortem degradation score—which allows the identification of DNA fragments that are unlikely to originate from present day sources. We apply this approach to a contaminated Neandertal specimen from Okladnikov Cave in Siberia to isolate its endogenous DNA from modern human contaminants and show that the reconstructed mitochondrial genome sequence is more closely related to the variation of Western Neandertals than what was discernible from previous analyses. Our method opens up the potential for genomic analysis of contaminated fossil material.

  • paleogenomics
  • human evolution

Footnotes

  • ↵1To whom correspondence should be addressed. E-mail: pontus.skoglund{at}gmail.com.
  • ↵2Present address: Institute of Laboratory Medicine, Ludwig Maximilians University, 81377 Munich, Germany.

  • Author contributions: P.S., S.P., J.K., and M.J. designed research; P.S., B.H.N., S.P., and J.K. performed research; M.V.S. and A.P.D. contributed new reagents/analytic tools; P.S. analyzed data; and P.S., S.P., J.K., and M.J. wrote the paper.

  • The authors declare no conflict of interest.

  • This article is a PNAS Direct Submission.

  • Data deposition: The sequence reported in this paper has been deposited in the GenBank database (accession no. KF982693).

  • This article contains supporting information online at www.pnas.org/lookup/suppl/doi:10.1073/pnas.1318934111/-/DCSupplemental.

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Separating ancient DNA from modern contamination
Pontus Skoglund, Bernd H. Northoff, Michael V. Shunkov, Anatoli P. Derevianko, Svante Pääbo, Johannes Krause, Mattias Jakobsson
Proceedings of the National Academy of Sciences Feb 2014, 111 (6) 2229-2234; DOI: 10.1073/pnas.1318934111

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Separating ancient DNA from modern contamination
Pontus Skoglund, Bernd H. Northoff, Michael V. Shunkov, Anatoli P. Derevianko, Svante Pääbo, Johannes Krause, Mattias Jakobsson
Proceedings of the National Academy of Sciences Feb 2014, 111 (6) 2229-2234; DOI: 10.1073/pnas.1318934111
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