Hammer M F
Laboratory of Molecular Systematics and Evolution, Biosciences West, University of Arizona, Tucson 85721, USA.
Nature. 1995 Nov 23;378(6555):376-8. doi: 10.1038/378376a0.
The male-specific portion of the Y chromosome is especially useful for studies of human origins. Patterns of nucleotide variation that are neutral with respect to fitness should permit estimates of when and where ancestral Y chromosomes existed. However, variation on the human Y chromosome has been observed to be greatly reduced relative to the autosomes and the X chromosome. One explanation is that selection for a favourable mutation on the non-recombining portion of the Y chromosome has resulted in the recent fixation of a single Y haplotype. A 2.6-kilobase fragment encompassing a polymorphic Alu insertion was sequenced from 16 human and four chimpanzee Y chromosomes. Patterns of nucleotide sequence diversity and divergence provide no evidence for a recent, strong selective sweep on the human Y chromosome. The time back to a common ancestral human Y chromosome is estimated to be 188,000 years, with a 95% confidence interval from 51,000 to 411,000 years. These results are consistent with autosomal and mitochondrial DNA studies that suggest a long-term human effective population size of 10,000 and a sex ratio of 1 (ref. 7). These inferences contradict predictions of the multiregional hypothesis positing a widespread transformation of Homo erectus populations into Homo sapiens.
Y染色体上男性特有的部分对于人类起源的研究格外有用。相对于适应性呈中性的核苷酸变异模式应能让人估算出祖先Y染色体存在的时间和地点。然而,已观察到人类Y染色体上的变异相对于常染色体和X染色体大幅减少。一种解释是,对Y染色体非重组部分有利突变的选择导致了单一Y单倍型在近期的固定。对包含一个多态性Alu插入的2.6千碱基片段,对16条人类Y染色体和4条黑猩猩Y染色体进行了测序。核苷酸序列多样性和分化模式并未提供证据表明人类Y染色体近期经历了强烈的选择性清除。追溯到共同祖先人类Y染色体的时间估计为18.8万年,95%置信区间为5.1万至41.1万年。这些结果与常染色体和线粒体DNA研究一致,后者表明人类长期有效种群大小为1万,性别比为1(参考文献7)。这些推断与多地区假说的预测相矛盾,该假说假定直立人群体广泛转变为智人。