Disentangling Immediate Adaptive Introgression from Selection on Standing Introgressed Variation in Humans.
Disentangling Immediate Adaptive Introgression from Selection on Standing Introgressed Variation in Humans.
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DOI：
10.1093/molbev/msx314
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发表时间：
2018-03-01
影响因子：
10.7
通讯作者：
Pagani L
中科院分区：
文献类型：
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作者：
Jagoda E;Lawson DJ;Wall JD;Lambert D;Muller C;Westaway M;Leavesley M;Capellini TD;Mirazón Lahr M;Gerbault P;Thomas MG;Migliano AB;Willerslev E;Metspalu M;Pagani L
最近的研究报道有证据表明，由于正向选择，从古人种群中导入的当代人类基因组的一部分频率很高。然而，到目前为止，还没有研究专门针对这些假定的适应性导入案例的导入后种群动态。在这里，我们第一次特别定义了立即适应性导入(IAI)的情况，在这种情况下，古老的单倍型在人类中由于导入事件后不久发生的选择性扫描而上升到高频。我们将这些情况定义为不同于基于标准导入变异(SI)的选择实例，在SI中，导入单倍型最初进行中性分离，然后进行正选择。使用地理上不同的数据集，我们报告了关于活人导入变异的新的选择案例，并在这些案例中筛选出那些选择性扫描更符合IAI而不是SI的产品的案例。这些新推断的IAI单倍型中有许多具有潜在的生物学相关性，包括西西伯利亚人、南亚人和西欧亚人中包含免疫相关基因的三种单倍型。总体而言，我们的结果表明，IAI可能并不代表对人类古老导入单倍型的正向选择的全貌，需要做更多的工作来分析SI在现代人古老导入景观中的作用。
Recent studies have reported evidence suggesting that portions of contemporary human genomes introgressed from archaic hominin populations went to high frequencies due to positive selection. However, no study to date has specifically addressed the postintrogression population dynamics of these putative cases of adaptive introgression. Here, for the first time, we specifically define cases of immediate adaptive introgression (iAI) in which archaic haplotypes rose to high frequencies in humans as a result of a selective sweep that occurred shortly after the introgression event. We define these cases as distinct from instances of selection on standing introgressed variation (SI), in which an introgressed haplotype initially segregated neutrally and subsequently underwent positive selection. Using a geographically diverse data set, we report novel cases of selection on introgressed variation in living humans and shortlist among these cases those whose selective sweeps are more consistent with having been the product of iAI rather than SI. Many of these novel inferred iAI haplotypes have potential biological relevance, including three that contain immune-related genes in West Siberians, South Asians, and West Eurasians. Overall, our results suggest that iAI may not represent the full picture of positive selection on archaically introgressed haplotypes in humans and that more work needs to be done to analyze the role of SI in the archaic introgression landscape of living humans.
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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
LYPD6和烟碱乙酰胆碱受体之间的功能相互作用。
影响因子：
4.7
作者：
Arvaniti M;Jensen MM;Soni N;Wang H;Klein AB;Thiriet N;Pinborg LH;Muldoon PP;Wienecke J;Imad Damaj M;Kohlmeier KA;Gondré-Lewis MC;Mikkelsen JD;Thomsen MS
通讯作者：
Thomsen MS
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：
64.8
作者：
通讯作者：
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来自阿尔泰山脉的尼安德特人的完整基因组序列。
影响因子：
64.8
作者：
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