Centre for GeoGenetics, Natural History Museum of Denmark and Department of Biology, University of Copenhagen, Universitetsparken 15, DK-2100 Copenhagen, Denmark.
Nature. 2010 Feb 11;463(7282):757-62. doi: 10.1038/nature08835.
We report here the genome sequence of an ancient human. Obtained from approximately 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 20x, 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.
我们在此报告一个古人类的基因组序列。该基因组源自约 4000 年前保存在永冻层中的毛发，代表了已知最早在格陵兰定居的文化中的一个男性个体。我们以平均深度为 20x 进行测序，覆盖了该个体二倍体基因组的 79%，接近当前测序技术的实际极限。我们鉴定出 353151 个高可信度的单核苷酸多态性（SNP），其中 6.8%以前未曾报道过。我们估计原始读取污染不高于 0.8%。我们使用功能 SNP 评估来推断该个体所属文化的可能表型特征，因为该文化仅留下微量的人类遗骸。我们将高可信度的 SNP 与当代人群进行比较，以找到与该个体最密切相关的人群。这为大约 5500 年前从西伯利亚向新大陆的迁徙提供了证据，这与导致现代美洲原住民和因纽特人的迁徙是独立的。
