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

A high-coverage Neandertal genome from Vindija Cave in Croatia.
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克罗地亚文迪亚洞穴的高覆盖率尼安德特人基因组

DOI:
10.1126/science.aao1887
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发表时间:
2017-11-03
期刊:
Science (New York, N.Y.)
影响因子:
--
通讯作者:
Pääbo S
Pääbo S
中科院分区:
其他
文献类型:
--
作者:
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

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迄今为止,唯一一个高质量测序的尼安德特人基因组来自西伯利亚南部的一个个体。我们对来自克罗地亚Vindija Cave的女性尼安德特人的基因组进行了测序,覆盖率约为30倍。她的两个基因组拷贝之间每一万个碱基对有1.6个差异,比现在的人类少,这表明尼安德特人的人口规模很小。我们的分析表明,她与生活在撒哈拉以南非洲以外的现代人类祖先混合的尼安德特人比以前测序的西伯利亚尼安德特人更密切相关,允许在现代人类中识别出10-20%的尼安德特人DNA,包括涉及LDL胆固醇水平,精神分裂症和其他疾病的变体。来自克罗地亚的高质量尼安德特人基因组更接近于为当今人类贡献DNA的尼安德特人。
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. A high-quality Neandertal genome from Croatia is substantially closer to the Neandertals that contributed DNA to present-day humans.
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