Genome sequence of a 45,000-year-old modern human from western Siberia.
Genome sequence of a 45,000-year-old modern human from western Siberia.
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DOI：
10.1038/nature13810
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发表时间：
2014-10-23
期刊：
影响因子：
64.8
通讯作者：
Pääbo S
中科院分区：
文献类型：
--
作者：
Fu Q;Li H;Moorjani P;Jay F;Slepchenko SM;Bondarev AA;Johnson PL;Aximu-Petri A;Prüfer K;de Filippo C;Meyer M;Zwyns N;Salazar-García DC;Kuzmin YV;Keates SG;Kosintsev PA;Razhev DI;Richards MP;Peristov NV;Lachmann M;Douka K;Higham TF;Slatkin M;Hublin JJ;Reich D;Kelso J;Viola TB;Pääbo S
我们提供了来自西伯利亚的约 45,000 岁现代人类男性的高质量基因组序列。该个体源自欧亚大陆西部和东部人口分离之前或同时生活的人群，并且具有与当今欧亚人相似数量的尼安德特人血统。然而，尼安德特人祖先的基因组片段比在当今个体中观察到的基因组片段要长得多，这表明尼安德特人的基因流入该个体的祖先发生在他生活前 7,000-13,000 年。根据与该基因组相比，当今非非洲人中发生的额外替换，我们估计常染色体突变率为 0.4–0.6×10−9/位点/年，Y 染色体突变率为 0.7–0.9×10−9/位点/年，根据骨骼年龄，线粒体突变率为 1.8–3.2 × 10−8/位点/年。
We present a high-quality genome sequence of a ~45,000-year-old modern human male from Siberia. This individual derives from a population that lived prior to – or simultaneously with – the separation of the populations in western and eastern Eurasia and carries a similar amount of Neandertal ancestry as present-day Eurasians. However, the genomic segments of Neandertal ancestry are substantially longer than those observed in present-day individuals, indicating that Neandertal gene flow into the ancestors of this individual occurred 7,000–13,000 years before he lived. We estimate an autosomal mutation rate of 0.4–0.6×10−9/site/year and a Y chromosomal mutation rate of 0.7–0.9×10−9/site/year based on the additional substitutions that have occurred in present-day non-Africans compared to this genome, and a mitochondrial mutation rate of 1.8–3.2 × 10−8/site/year based on the age of the bone.