Novel alleles gained during the Beringian isolation period.
Novel alleles gained during the Beringian isolation period.
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DOI：
10.1038/s41598-022-08212-1
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发表时间：
2022-03-11
影响因子：
4.6
通讯作者：
Long JC
中科院分区：
文献类型：
--
作者：
Niedbalski SD;Long JC
在最后一次冰川盛期，一小群西伯利亚人进入了柏林走廊，在那里他们与基因流动隔离了数千年，然后扩展到美洲。柏林环境的生态特征，加上在小种群规模下长时间的隔离期，将为新的遗传变异的出现提供进化机会，因为稀有的常备变异和新的突变都通过中性和定向过程被驱动到高频。在这里，我们在千人基因组计划第三阶段对美洲原住民群体进行全基因组调查，以确定独特的高频等位基因，这些等位基因可以追溯到贝林贾的起源。我们的分析表明，美洲原住民的后代人口中有20,424个这样的变异，其规模仅可与非洲和非洲以外的瓶颈相媲美。这与连续创始人效应模型的模拟是一致的。选择试验表明，这些柏林变异中的一些可能是由适应过程驱动到高频的，生物信息学分析表明，在柏林隔离期间，可能有表型途径被选择。具体地说，与心脏过程和黑素细胞功能相关的通路似乎在选定的柏林变种中丰富。
During the Last Glacial Maximum, a small band of Siberians entered the Beringian corridor, where they persisted, isolated from gene flow, for several thousand years before expansion into the Americas. The ecological features of the Beringian environment, coupled with an extended period of isolation at small population size, would have provided evolutionary opportunity for novel genetic variation to arise as both rare standing variants and new mutations were driven to high frequency through both neutral and directed processes. Here we perform a full genome investigation of Native American populations in the Thousand Genomes Project Phase 3 to identify unique high frequency alleles that can be dated to an origin in Beringia. Our analyses demonstrate that descendant populations of Native Americans harbor 20,424 such variants, which is on a scale comparable only to Africa and the Out of Africa bottleneck. This is consistent with simulations of a serial founder effects model. Tests for selection reveal that some of these Beringian variants were likely driven to high frequency by adaptive processes, and bioinformatic analyses suggest possible phenotypic pathways that were under selection during the Beringian Isolation period. Specifically, pathways related to cardiac processes and melanocyte function appear to be enriched for selected Beringian variants.
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影响因子：
4
作者：
Lohmueller, Kirk E.
通讯作者：
Lohmueller, Kirk E.
DOI：
10.1073/pnas.1620541114
发表时间：
2017-02-28
影响因子：
11.1
作者：
Amorim, Carlos Eduardo G.;Nunes, Kelly;Hunemeier, Tabita
通讯作者：
Hunemeier, Tabita
影响因子：
64.8
作者：
Choin, Jeremy;Mendoza-Revilla, Javier;Quintana-Murci, Lluis
通讯作者：
Quintana-Murci, Lluis
DOI：
10.1073/pnas.1711788115
发表时间：
2018-05-08
影响因子：
11.1
作者：
Hlusko LJ;Carlson JP;Chaplin G;Elias SA;Hoffecker JF;Huffman M;Jablonski NG;Monson TA;O'Rourke DH;Pilloud MA;Scott GR
通讯作者：
Scott GR
影响因子：
64.8
作者：
1000 Genomes Project Consortium;Auton A;Brooks LD;Durbin RM;Garrison EP;Kang HM;Korbel JO;Marchini JL;McCarthy S;McVean GA;Abecasis GR
通讯作者：
Abecasis GR