Nature. 2005 Sep 1;437(7055):69-87. doi: 10.1038/nature04072.
Here we present a draft genome sequence of the common chimpanzee (Pan troglodytes). Through comparison with the human genome, we have generated a largely complete catalogue of the genetic differences that have accumulated since the human and chimpanzee species diverged from our common ancestor, constituting approximately thirty-five million single-nucleotide changes, five million insertion/deletion events, and various chromosomal rearrangements. We use this catalogue to explore the magnitude and regional variation of mutational forces shaping these two genomes, and the strength of positive and negative selection acting on their genes. In particular, we find that the patterns of evolution in human and chimpanzee protein-coding genes are highly correlated and dominated by the fixation of neutral and slightly deleterious alleles. We also use the chimpanzee genome as an outgroup to investigate human population genetics and identify signatures of selective sweeps in recent human evolution.
在此,我们展示了黑猩猩(Pan troglodytes)的基因组序列草图。通过与人类基因组进行比较,我们生成了一份基本完整的遗传差异目录,这些差异是自人类和黑猩猩物种从共同祖先分化以来积累的,包括约三千五百万个单核苷酸变化、五百万个插入/缺失事件以及各种染色体重排。我们利用这份目录来探究塑造这两个基因组的突变力的大小和区域变异,以及作用于其基因的正选择和负选择的强度。特别是,我们发现人类和黑猩猩蛋白质编码基因的进化模式高度相关,且以中性和轻度有害等位基因的固定为主导。我们还将黑猩猩基因组作为外类群来研究人类群体遗传学,并识别近期人类进化中的选择性清除特征。