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. © 2017, American Association for the Advancement of Science. All rights reserved.
A high-coverage Neandertal genome from Vindija Cave in Croatia / 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, B. J.; Key, F. M.; Rudan, P.; Kućan, Ž.; Gušić, I.; Golovanova, L. V.; Doronichev, V. B.; Patterson, N.; Reich, D.; Eichler, E. E.; Slatkin, M.; Schierup, M. H.; Andrés, A. M.; Kelso, J.; Meyer, M.; Pääbo, S.. - In: SCIENCE. - ISSN 1095-9203. - 15:3(2017), pp. 488-503. [10.1126/science.aao1887]
A high-coverage Neandertal genome from Vindija Cave in Croatia
MAFESSONI F;
2017-01-01
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. © 2017, American Association for the Advancement of Science. All rights reserved.Pubblicazioni consigliate
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