The genomic landscape of Neanderthal ancestry in present-day humans.
The genomic landscape of Neanderthal ancestry in present-day humans.
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作者：
对尼安德特人基因组的分析显示，尼安德特人为现代人类贡献了遗传变异。尼安德特人基因流入现代人类的古老性意味着，今天任何一个人身上源自尼安德特人的区域通常不到100个碱基。然而，尼安德特人的单倍型也足够独特，以至于一些研究已经能够在特定的基因座上检测到尼安德特人的祖先。在这里，我们系统地推断了1,004个现代人类基因组中的尼安德特人单倍型。在现代人类中含有高频率尼安德特人等位基因的区域富含影响角蛋白丝的基因，这表明尼安德特人等位基因可能帮助现代人类适应非非洲环境。尼安德特人的等位基因也继续塑造人类生物学，因为我们发现了多种尼安德特人衍生的等位基因，这些等位基因会带来疾病的风险。我们还确定了数百万个碱基对的区域，这些区域几乎没有尼安德特人的祖先，并且富含基因，这意味着选择去除了来自尼安德特人的遗传物质。尼安德特人的祖先在睾丸中特异性表达的基因中显著减少，X染色体上的尼安德特人祖先减少了大约5倍，已知X染色体上含有不成比例的雄性杂交不育基因。这些结果表明，尼安德特人祖先在基因附近的减少部分是由于尼安德特人等位基因在转移到现代人类遗传背景时降低了男性的生育能力。
Analyses of Neandertal genomes have revealed that Neandertals have contributed genetic variants to modern humans. The antiquity of Neandertal gene flow into modern humans means that regions that derive from Neandertals in any one human today are usually less than a hundred kilobases in size. However, Neandertal haplotypes are also distinctive enough that several studies have been able to detect Neandertal ancestry at specific loci. Here, we have systematically inferred Neandertal haplotypes in the genomes of 1,004 present-day humans. Regions that harbor a high frequency of Neandertal alleles in modern humans are enriched for genes affecting keratin filaments suggesting that Neandertal alleles may have helped modern humans adapt to non-African environments. Neandertal alleles also continue to shape human biology, as we identify multiple Neandertal-derived alleles that confer risk for disease. We also identify regions of millions of base pairs that are nearly devoid of Neandertal ancestry and enriched in genes, implying selection to remove genetic material derived from Neandertals. Neandertal ancestry is significantly reduced in genes specifically expressed in testis, and there is an approximately 5-fold reduction of Neandertal ancestry on chromosome X, which is known to harbor a disproportionate fraction of male hybrid sterility genes. These results suggest that part of the reduction in Neandertal ancestry near genes is due to Neandertal alleles that reduced fertility in males when moved to a modern human genetic background.
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DOI：
10.1126/science.1224344
发表时间：
2012-10-12
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Meyer M;Kircher M;Gansauge MT;Li H;Racimo F;Mallick S;Schraiber JG;Jay F;Prüfer K;de Filippo C;Sudmant PH;Alkan C;Fu Q;Do R;Rohland N;Tandon A;Siebauer M;Green RE;Bryc K;Briggs AW;Stenzel U;Dabney J;Shendure J;Kitzman J;Hammer MF;Shunkov MV;Derevianko AP;Patterson N;Andrés AM;Eichler EE;Slatkin M;Reich D;Kelso J;Pääbo S
通讯作者：
Pääbo S
来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
10.7
作者：
Mendez, Fernando L.;Watkins, Joseph C.;Hammer, Michael F.
通讯作者：
Hammer, Michael F.
影响因子：
4.5
作者：
KUNSCH, HR
通讯作者：
KUNSCH, HR
DOI：
10.1073/pnas.0903103106
发表时间：
2009-06-09
影响因子：
11.1
作者：
Hindorff, Lucia A.;Sethupathy, Praveen;Manolio, Teri A.
通讯作者：
Manolio, Teri A.