Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.
Science. 2012 Oct 12;338(6104):222-6. doi: 10.1126/science.1224344. Epub 2012 Aug 30.
We present a DNA library preparation method that has allowed us to reconstruct a high-coverage (30×) genome sequence of a Denisovan, an extinct relative of Neandertals. The quality of this genome allows a direct estimation of Denisovan heterozygosity indicating that genetic diversity in these archaic hominins was extremely low. It also allows tentative dating of the specimen on the basis of "missing evolution" in its genome, detailed measurements of Denisovan and Neandertal admixture into present-day human populations, and the generation of a near-complete catalog of genetic changes that swept to high frequency in modern humans since their divergence from Denisovans.
我们提出了一种 DNA 文库制备方法，使我们能够重建一个高覆盖率（30×）的丹尼索瓦人基因组序列，丹尼索瓦人是尼安德特人的灭绝亲属。该基因组的质量允许直接估计丹尼索瓦人的杂合度，表明这些古老人类的遗传多样性极低。它还允许根据其基因组中的“缺失进化”、对丹尼索瓦人和尼安德特人混合到现代人类中的详细测量，以及生成一个近乎完整的遗传变化目录来对标本进行暂定日期，这些遗传变化自与丹尼索瓦人分化以来在现代人中高频出现。
