Yu Ning, Jensen-Seaman Michael I, Chemnick Leona, Kidd Judith R, Deinard Amos S, Ryder Oliver, Kidd Kenneth K, Li Wen-Hsiung
Department of Ecology and Evolution, University of Chicago, 1101 E. 57th Street, Chicago, IL 60637, USA.
Genetics. 2003 Aug;164(4):1511-8. doi: 10.1093/genetics/164.4.1511.
Comparison of the levels of nucleotide diversity in humans and apes may provide much insight into the mechanisms of maintenance of DNA polymorphism and the demographic history of these organisms. In the past, abundant mitochondrial DNA (mtDNA) polymorphism data indicated that nucleotide diversity (pi) is more than threefold higher in chimpanzees than in humans. Furthermore, it has recently been claimed, on the basis of limited data, that this is also true for nuclear DNA. In this study we sequenced 50 noncoding, nonrepetitive DNA segments randomly chosen from the nuclear genome in 9 bonobos and 17 chimpanzees. Surprisingly, the pi value for bonobos is only 0.078%, even somewhat lower than that (0.088%) for humans for the same 50 segments. The pi values are 0.092, 0.130, and 0.082% for East, Central, and West African chimpanzees, respectively, and 0.132% for all chimpanzees. These values are similar to or at most only 1.5 times higher than that for humans. The much larger difference in mtDNA diversity than in nuclear DNA diversity between humans and chimpanzees is puzzling. We speculate that it is due mainly to a reduction in effective population size (N(e)) in the human lineage after the human-chimpanzee divergence, because a reduction in N(e) has a stronger effect on mtDNA diversity than on nuclear DNA diversity. Sequence data from this article have been deposited with the GenBank Data libraries under accession nos. AY 275957-AY 277244.
比较人类和猿类的核苷酸多样性水平，可能会为DNA多态性的维持机制以及这些生物的种群历史提供很多见解。过去，丰富的线粒体DNA（mtDNA）多态性数据表明，黑猩猩的核苷酸多样性（π）比人类高出三倍多。此外，最近基于有限的数据声称，核DNA也是如此。在本研究中，我们对从9只倭黑猩猩和17只黑猩猩的核基因组中随机选择的50个非编码、非重复DNA片段进行了测序。令人惊讶的是，倭黑猩猩的π值仅为0.078%，甚至略低于人类相同50个片段的π值（0.088%）。东非、中非和西非黑猩猩的π值分别为0.092%、0.130%和0.082%，所有黑猩猩的π值为0.132%。这些值与人类的相似，或至多仅比人类高1.5倍。人类和黑猩猩之间mtDNA多样性的差异远大于核DNA多样性，这令人费解。我们推测，这主要是由于人类与黑猩猩分化后人类谱系中有效种群大小（N e）的减少，因为N e的减少对mtDNA多样性的影响比对核DNA多样性的影响更大。本文的序列数据已存入GenBank数据库，登录号为AY 275957 - AY 277244。
