Neandertal Origin of Genetic Variation at the Cluster of OAS Immunity Genes
Neandertal Origin of Genetic Variation at the Cluster of OAS Immunity Genes
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DOI：
10.1093/molbev/mst004
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发表时间：
2013-04-01
影响因子：
10.7
通讯作者：
Hammer, Michael F.
中科院分区：
文献类型：
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作者：
Mendez, Fernando L.;Watkins, Joseph C.;Hammer, Michael F.
对灭绝人类的古代DNA的分析揭示了非非洲人口历史上至少两次独立的杂交事件的信号。到目前为止，被严格鉴定为内向的特定遗传变异的例子很少。在这里，我们调查了12号染色体上OAS基因簇的DNA序列变异，并提供了强有力的证据，表明延伸到类似185kb的单倍型是从尼安德特人引入的。这种单倍型几乎仅限于欧亚人，估计与尼安德特人的序列类似，约为125kya。尽管有可能出现新的功能变异，但观察到的这种单倍型的频率与中性渐渗一致。这是人类基因组中的第二个基因座，仅次于STAT2，携带着不同的单倍型，似乎分别导入了尼安德特人和丹尼索瓦人。
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 similar to 185 kb introgressed from Neandertals. This haplotype is nearly restricted to Eurasians and is estimated to have diverged from the Neandertal sequence similar to 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.