A high-coverage Neandertal genome from Vindija Cave in Croatia

Bibliographic Collection: 
Publication Type: Journal Article
Authors: Prüfer, Kay; de Filippo, Cesare; Grote, Steffi; Mafessoni, Fabrizio; Korlević, Petra; Hajdinjak, Mateja; Vernot, Benjamin; Skov, Laurits; Hsieh, Pinghsun; Peyrégne, Stéphane; Reher, David; Hopfe, Charlotte; Nagel, Sarah; Maricic, Tomislav; Fu, Qiaomei; Theunert, Christoph; Rogers, Rebekah; Skoglund, Pontus; Chintalapati, Manjusha; Dannemann, Michael; Nelson, Bradley J.; Key, Felix M.; Rudan, Pavao; Kucan, Zeljko; Gusic, Ivan; Golovanova, Liubov V.; Doronichev, Vladimir B.; Patterson, Nick; Reich, David; Eichler, Evan E.; Slatkin, Montgomery; Schierup, Mikkel H.; Andrés, Aida; Kelso, Janet; Meyer, Matthias; Pääbo, Svante
Year of Publication: 2017
Journal: Science
Date Published: 2017/10/05
Publication Language: eng

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 thousand years ago from Vindija Cave, Croatia to ~30-fold genomic coverage. She carried 1.6 differences per ten thousand 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 10-20% more Neandertal DNA to be identified in present-day humans, including variants involved in LDL cholesterol levels, schizophrenia and other diseases.

DOI: 10.1126/science.aao1887
Short Title: Science