Department of Evolutionary Genetics, Max-Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.
Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Science. 2010 May 7;328(5979):710-722. doi: 10.1126/science.1188021.
Neandertals, the closest evolutionary relatives of present-day humans, lived in large parts of Europe and western Asia before disappearing 30,000 years ago. We present a draft sequence of the Neandertal genome composed of more than 4 billion nucleotides from three individuals. Comparisons of the Neandertal genome to the genomes of five present-day humans from different parts of the world identify a number of genomic regions that may have been affected by positive selection in ancestral modern humans, including genes involved in metabolism and in cognitive and skeletal development. We show that Neandertals shared more genetic variants with present-day humans in Eurasia than with present-day humans in sub-Saharan Africa, suggesting that gene flow from Neandertals into the ancestors of non-Africans occurred before the divergence of Eurasian groups from each other.
尼安德特人是现代人类最近的进化亲属，生活在欧洲和西亚的大部分地区，直到 3 万年前消失。我们提供了来自三个个体的超过 40 亿个核苷酸组成的尼安德特人基因组草案序列。将尼安德特人基因组与来自世界不同地区的五名现代人的基因组进行比较，确定了一些可能在现代人类祖先中经历了正选择的基因组区域，包括参与代谢以及认知和骨骼发育的基因。我们表明，尼安德特人与欧亚大陆的现代人比与撒哈拉以南非洲的现代人共享更多的遗传变异，这表明尼安德特人的基因流在欧亚人群彼此分化之前就已经进入了非非洲人的祖先中。
