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Science. 2017 Nov 3;358(6363):655-658. doi: 10.1126/science.aao1887. Epub 2017 Oct 5.

A high-coverage Neandertal genome from Vindija Cave in Croatia.

Author information

1
Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany. pruefer@eva.mpg.de paabo@eva.mpg.de.
2
Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany.
3
Bioinformatics Research Centre, Aarhus University, DK-8000 Aarhus C, Denmark.
4
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
5
Key Laboratory of Vertebrate Evolution and Human Origins of Chinese Academy of Sciences, Institute of Vertebrate Paleontology and Paleoanthropology, Chinese Academy of Sciences, Beijing 100044, China.
6
Department of Integrative Biology, University of California, Berkeley, CA 94720-3140, USA.
7
Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
8
Anthropology Center of the Croatian Academy of Sciences and Arts, 10000 Zagreb, Croatia.
9
ANO Laboratory of Prehistory 14 Linia 3-11, St. Petersburg 1990 34, Russia.
10
Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
11
Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA.
12
Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.

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.

Comment in

PMID:
28982794
PMCID:
PMC6185897
DOI:
10.1126/science.aao1887
[Indexed for MEDLINE]
Free PMC Article

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