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Exonic versus intronic SNPs: contrasting roles in revealing the population genetic differentiation of a widespread bird species

机译:外显子与内含子SNP:揭示广泛鸟类物种遗传差异的不同作用

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摘要

Recent years have seen considerable progress in applying single nucleotide polymorphisms (SNPs) to population genetics studies. However, relatively few have attempted to use them to study the genetic differentiation of wild bird populations and none have examined possible differences of exonic and intronic SNPs in these studies. Here, using 144 SNPs, we examined population genetic differentiation in the saker falcon (Falco cherrug) across Eurasia. The position of each SNP was verified using the recently sequenced saker genome with 108 SNPs positioned within the introns of 10 fragments and 36 SNPs in the exons of six genes, comprising MHC, MC1R and four others. In contrast to intronic SNPs, both Bayesian clustering and principal component analyses using exonic SNPs consistently revealed two genetic clusters, within which the least admixed individuals were found in Europe/central Asia and Qinghai (China), respectively. Pairwise D analysis for exonic SNPs showed that the two populations were significantly differentiated and between the two clusters the frequencies of five SNP markers were inferred to be influenced by selection. Central Eurasian populations clustered in as intermediate between the two main groups, consistent with their geographic position. But the westernmost populations of central Europe showed evidence of demographic isolation. Our work highlights the importance of functional exonic SNPs for studying population genetic pattern in a widespread avian species.
机译:近年来,在将单核苷酸多态性(SNP)应用于人群遗传学研究中已取得了长足的进步。但是,相对很少有人尝试用它们来研究野生鸟类种群的遗传分化,并且在这些研究中没有人检查过外显子和内含子SNP的可能差异。在这里,我们使用144个SNP,检查了整个欧亚大陆上的猎鹰(Falco cherrug)的种群遗传分化。使用最近测序的saker基因组验证了每个SNP的位置,这些基因组中有108个SNP位于六个基因(包括MHC,MC1R和其他四个基因)的外显子中的10个片段的内含子和36个SNP。与内含子SNP相比,贝叶斯聚类和使用外显子SNP进行的主成分分析始终揭示了两个遗传簇,其中混合最少的个体分别位于欧洲/中亚和青海(中国)。对外显子SNP的成对D分析表明,这两个种群之间存在显着差异,并且在两个聚类之间,推断五个SNP标记的频率受到选择的影响。欧亚大陆中部人口聚集在两个主要群体之间,视其地理位置而定。但是中欧最西端的人口显示出人口隔离的迹象。我们的工作强调了功能性外显子SNP在研究广泛禽类种群遗传模式中的重要性。

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