Department of Ecology and Evolutionary Biology, University of Arizona, Arizona, USA.
Mol Biol Evol. 2013 Apr;30(4):798-801. doi: 10.1093/molbev/mst004. Epub 2013 Jan 12.
Analyses of ancient DNA from extinct humans reveal signals of at least two independent hybridization events in the history of non-African populations. To date, there are very few examples of specific genetic variants that have been rigorously identified as introgressive. Here, we survey DNA sequence variation in the OAS gene cluster on chromosome 12 and provide strong evidence that a haplotype extending for ~185 kb introgressed from Neandertals. This haplotype is nearly restricted to Eurasians and is estimated to have diverged from the Neandertal sequence ~125 kya. Despite the potential for novel functional variation, the observed frequency of this haplotype is consistent with neutral introgression. This is the second locus in the human genome, after STAT2, carrying distinct haplotypes that appear to have introgressed separately from both Neandertals and Denisova.
对已灭绝人类的古 DNA 分析揭示了至少两次非非洲人群历史上独立的杂交事件的信号。迄今为止，只有极少数特定遗传变异的例子被严格确认为渐渗。在这里，我们对染色体 12 上的 OAS 基因簇的 DNA 序列变异进行了调查，并提供了强有力的证据表明，一个从尼安德特人传入的长达约 185kb 的单倍型。这种单倍型几乎只存在于欧亚人群中，据估计，它与尼安德特人的序列在大约 125 千年前就已经分化了。尽管存在新的功能变异的可能性，但这种单倍型的观察频率与中性渐渗是一致的。这是人类基因组中的第二个基因座，仅次于 STAT2，携带明显的单倍型，这些单倍型似乎分别从尼安德特人和丹尼索瓦人那里传入。
