A high-coverage Neandertal genome from Vindija Cave in Croatia

Kay Prüfer; Cesare De Filippo; Steffi Grote; Fabrizio Mafessoni; Petra Korlević; Mateja Hajdinjak; Benjamin Vernot; Laurits Skov; Pinghsun Hsieh; Stéphane Peyrégne; David Reher; Charlotte Hopfe; Sarah Nagel; Tomislav Maricic; Qiaomei Fu; Christoph Theunert; Rebekah Rogers; Pontus Skoglund; Manjusha Chintalapati; Michael Dannemann; Bradley J. Nelson; Felix M. Key; Pavao Rudan; Željko Kućan; Ivan Gušić; Liubov V. Golovanova; Vladimir B. Doronichev; Nick Patterson; David Reich; Evan E. Eichler; Montgomery Slatkin; Mikkel H. Schierup; Aida M. Andrés; Janet Kelso; Matthias Meyer; Svante Pääbo

doi:10.1126/science.aao1887

A high-coverage Neandertal genome from Vindija Cave in Croatia

Kay Prüfer, Cesare De Filippo, Steffi Grote, Fabrizio Mafessoni, Petra Korlević, Mateja Hajdinjak, Benjamin Vernot, Laurits Skov, Pinghsun Hsieh, Stéphane Peyrégne, David Reher, Charlotte Hopfe, Sarah Nagel, Tomislav Maricic, Qiaomei Fu, Christoph Theunert, Rebekah Rogers, Pontus Skoglund, Manjusha Chintalapati, Michael DannemannBradley J. Nelson, Felix M. Key, Pavao Rudan, Željko Kućan, Ivan Gušić, Liubov V. Golovanova, Vladimir B. Doronichev, Nick Patterson, David Reich, Evan E. Eichler, Montgomery Slatkin, Mikkel H. Schierup, Aida M. Andrés, Janet Kelso, Matthias Meyer, Svante Pääbo

Research output: Contribution to journal › Article › peer-review

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Abstract

To date, the only Neandertal genome that has been sequenced to high quality is from an individual found in Southern Siberia. We sequenced the genome of a female Neandertal from ~50,000 years ago from Vindija Cave, Croatia, to ~30-fold genomic coverage. She carried 1.6 differences per 10,000 base pairs between the two copies of her genome, fewer than present-day humans, suggesting that Neandertal populations were of small size. Our analyses indicate that she was more closely related to the Neandertals that mixed with the ancestors of present-day humans living outside of sub-Saharan Africa than the previously sequenced Neandertal from Siberia, allowing 10 to 20% more Neandertal DNA to be identified in present-day humans, including variants involved in low-density lipoprotein cholesterol concentrations, schizophrenia, and other diseases.

Original language	English (US)
Pages (from-to)	655-658
Number of pages	4
Journal	Science
Volume	358
Issue number	6363
DOIs	https://doi.org/10.1126/science.aao1887
State	Published - Nov 3 2017
Externally published	Yes

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© 2017, American Association for the Advancement of Science. All rights reserved.

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Prüfer, K., De Filippo, C., Grote, S., Mafessoni, F., Korlević, P., Hajdinjak, M., Vernot, B., Skov, L., Hsieh, P., Peyrégne, S., Reher, D., Hopfe, C., Nagel, S., Maricic, T., Fu, Q., Theunert, C., Rogers, R., Skoglund, P., Chintalapati, M., ... Pääbo, S. (2017). A high-coverage Neandertal genome from Vindija Cave in Croatia. Science, 358(6363), 655-658. https://doi.org/10.1126/science.aao1887

Prüfer, K, De Filippo, C, Grote, S, Mafessoni, F, Korlević, P, Hajdinjak, M, Vernot, B, Skov, L, Hsieh, P, Peyrégne, S, Reher, D, Hopfe, C, Nagel, S, Maricic, T, Fu, Q, Theunert, C, Rogers, R, Skoglund, P, Chintalapati, M, Dannemann, M, Nelson, BJ, Key, FM, Rudan, P, Kućan, Ž, Gušić, I, Golovanova, LV, Doronichev, VB, Patterson, N, Reich, D, Eichler, EE, Slatkin, M, Schierup, MH, Andrés, AM, Kelso, J, Meyer, M & Pääbo, S 2017, 'A high-coverage Neandertal genome from Vindija Cave in Croatia', Science, vol. 358, no. 6363, pp. 655-658. https://doi.org/10.1126/science.aao1887

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abstract = "To date, the only Neandertal genome that has been sequenced to high quality is from an individual found in Southern Siberia. We sequenced the genome of a female Neandertal from ~50,000 years ago from Vindija Cave, Croatia, to ~30-fold genomic coverage. She carried 1.6 differences per 10,000 base pairs between the two copies of her genome, fewer than present-day humans, suggesting that Neandertal populations were of small size. Our analyses indicate that she was more closely related to the Neandertals that mixed with the ancestors of present-day humans living outside of sub-Saharan Africa than the previously sequenced Neandertal from Siberia, allowing 10 to 20% more Neandertal DNA to be identified in present-day humans, including variants involved in low-density lipoprotein cholesterol concentrations, schizophrenia, and other diseases.",

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AU - Prüfer, Kay

AU - De Filippo, Cesare

AU - Grote, Steffi

AU - Mafessoni, Fabrizio

AU - Korlević, Petra

AU - Hajdinjak, Mateja

AU - Vernot, Benjamin

AU - Skov, Laurits

AU - Hsieh, Pinghsun

AU - Peyrégne, Stéphane

AU - Reher, David

AU - Hopfe, Charlotte

AU - Nagel, Sarah

AU - Maricic, Tomislav

AU - Fu, Qiaomei

AU - Theunert, Christoph

AU - Rogers, Rebekah

AU - Skoglund, Pontus

AU - Chintalapati, Manjusha

AU - Dannemann, Michael

AU - Nelson, Bradley J.

AU - Key, Felix M.

AU - Rudan, Pavao

AU - Kućan, Željko

AU - Gušić, Ivan

AU - Golovanova, Liubov V.

AU - Doronichev, Vladimir B.

AU - Patterson, Nick

AU - Reich, David

AU - Eichler, Evan E.

AU - Slatkin, Montgomery

AU - Schierup, Mikkel H.

AU - Andrés, Aida M.

AU - Kelso, Janet

AU - Meyer, Matthias

AU - Pääbo, Svante

PY - 2017/11/3

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A high-coverage Neandertal genome from Vindija Cave in Croatia

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