Analysis of Common SNPs across Continents Reveals Major Genomic Differences between Human Populations.
Analysis of Common SNPs across Continents Reveals Major Genomic Differences between Human Populations.
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常见的等位基因往往比罕见的等位基因更古老。这些常见的SNP出现在数千年前，反映了复杂的人类进化，包括各种适应，混合和迁移事件。通过对来自230个种群的3100个基因组进行处理，发现了84000个丰富的区域特异性等位基因（ARSA），这些等位基因在一个大陆上很常见，但在世界其他地区却不存在。还计算了17，446个多态性位点，其中区域缺乏共同等位基因（RACA），这些位点在全球范围内广泛分布，但在一个地区缺乏。这些区域特异性SNP大多数在非洲发现。美国拥有第二大数量的ARSA（3348），甚至领先于欧洲（1911）。令人惊讶的是，东亚地区的RACA数量最多（10，524），ARSA数量最少（362）。ARSA和RACA在不同的地理区域具有不同的祖先与衍生等位基因的组成，反映了它们独特的进化。鉴定与ARSA和RACA SNP相关的基因并分析其功能。研究了多个种群共有的与区域特异性自然选择相关的核心100个基因。其中最大的部分（42%）与神经系统有关。ARSA和RACA SNPs对于关联和人类进化研究都很重要。
Common alleles tend to be more ancient than rare alleles. These common SNPs appeared thousands of years ago and reflect intricate human evolution including various adaptations, admixtures, and migration events. Eighty-four thousand abundant region-specific alleles (ARSAs) that are common in one continent but absent in the rest of the world have been characterized by processing 3100 genomes from 230 populations. Also computed were 17,446 polymorphic sites with regional absence of common alleles (RACAs), which are widespread globally but absent in one region. A majority of these region-specific SNPs were found in Africa. America has the second greatest number of ARSAs (3348) and is even ahead of Europe (1911). Surprisingly, East Asia has the highest number of RACAs (10,524) and the lowest number of ARSAs (362). ARSAs and RACAs have distinct compositions of ancestral versus derived alleles in different geographical regions, reflecting their unique evolution. Genes associated with ARSA and RACA SNPs were identified and their functions were analyzed. The core 100 genes shared by multiple populations and associated with region-specific natural selection were examined. The largest part of them (42%) are related to the nervous system. ARSA and RACA SNPs are important for both association and human evolution studies.
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影响因子：
12.3
作者：
Colonna V;Ayub Q;Chen Y;Pagani L;Luisi P;Pybus M;Garrison E;Xue Y;Tyler-Smith C;1000 Genomes Project Consortium;Abecasis GR;Auton A;Brooks LD;DePristo MA;Durbin RM;Handsaker RE;Kang HM;Marth GT;McVean GA
通讯作者：
McVean GA
影响因子：
1.2
作者：
Cingolani, Pablo;Platts, Adrian;Ruden, Douglas M.
通讯作者：
Ruden, Douglas M.
影响因子：
7
作者：
Auton, Adam;Bryc, Katarzyna;Bustamante, Carlos D.
通讯作者：
Bustamante, Carlos D.
影响因子：
3.7
作者：
Amato, Roberto;Pinelli, Michele;Cocozza, Sergio
通讯作者：
Cocozza, Sergio
DOI：
10.1098/rspb.2019.0471
发表时间：
2019-05-01
影响因子：
4.7
作者：
Arauna, Lara R.;Hellenthal, Garrett;Comas, David
通讯作者：
Comas, David