Ancient human genome sequence of an extinct Palaeo-Eskimo.

Ancient human genome sequence of an extinct Palaeo-Eskimo.
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DOI:
10.1038/nature08835
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发表时间:
2010-02-11
期刊:
影响因子:
64.8
通讯作者:
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中科院分区:
综合性期刊1区
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我们在这里报告了古代人类的基因组序列。该基因组是从14000年前的冻土保存的头发中获得的,代表了第一个在格陵兰岛定居的已知文化中的男性个体。测序平均深度为20×,我们恢复了79%的二倍体基因组,接近目前测序技术的实际极限。我们确定了353,151个高置信度的单核苷酸多态性(SNP),其中6.8%以前没有报道过。我们估计原始读取污染不高于0.8%。我们使用功能SNP评估来分配可能的表型特征的个人,属于一个文化的位置只产生了微量的人类遗骸。我们将高置信度SNP与当代人群的SNP进行比较,以找到与个体最密切相关的人群。这为大约5,500年前从西伯利亚迁移到新大陆提供了证据,独立于现代美洲原住民和因纽特人的产生。
We report here the genome sequence of an ancient human. Obtained from ∼4,000-year-old permafrost-preserved hair, the genome represents a male individual from the first known culture to settle in Greenland. Sequenced to an average depth of 20×, we recover 79% of the diploid genome, an amount close to the practical limit of current sequencing technologies. We identify 353,151 high-confidence single-nucleotide polymorphisms (SNPs), of which 6.8% have not been reported previously. We estimate raw read contamination to be no higher than 0.8%. We use functional SNP assessment to assign possible phenotypic characteristics of the individual that belonged to a culture whose location has yielded only trace human remains. We compare the high-confidence SNPs to those of contemporary populations to find the populations most closely related to the individual. This provides evidence for a migration from Siberia into the New World some 5,500 years ago, independent of that giving rise to the modern Native Americans and Inuit.
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