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Theory practice and conservation in the age of genomics: The Galápagos giant tortoise as a case study

机译:基因组学时代的理论实践和保护:以加拉帕戈斯巨龟为例

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摘要

High‐throughput DNA sequencing allows efficient discovery of thousands of single nucleotide polymorphisms (SNPs) in nonmodel species. Population genetic theory predicts that this large number of independent markers should provide detailed insights into population structure, even when only a few individuals are sampled. Still, sampling design can have a strong impact on such inferences. Here, we use simulations and empirical SNP data to investigate the impacts of sampling design on estimating genetic differentiation among populations that represent three species of Galápagos giant tortoises (Chelonoidis spp.). Though microsatellite and mitochondrial DNA analyses have supported the distinctiveness of these species, a recent study called into question how well these markers matched with data from genomic SNPs, thereby questioning decades of studies in nonmodel organisms. Using >20,000 genomewide SNPs from 30 individuals from three Galápagos giant tortoise species, we find distinct structure that matches the relationships described by the traditional genetic markers. Furthermore, we confirm that accurate estimates of genetic differentiation in highly structured natural populations can be obtained using thousands of SNPs and 2–5 individuals, or hundreds of SNPs and 10 individuals, but only if the units of analysis are delineated in a way that is consistent with evolutionary history. We show that the lack of structure in the recent SNP‐based study was likely due to unnatural grouping of individuals and erroneous genotype filtering. Our study demonstrates that genomic data enable patterns of genetic differentiation among populations to be elucidated even with few samples per population, and underscores the importance of sampling design. These results have specific implications for studies of population structure in endangered species and subsequent management decisions.
机译:高通量DNA测序可有效发现非模型物种中的数千个单核苷酸多态性(SNP)。人口遗传理论预测,即使只有少数几个个体被采样,大量的独立标记也应提供对人口结构的详细见解。尽管如此,抽样设计仍会对此类推论产生重大影响。在这里,我们使用模拟和经验SNP数据来研究抽样设计对代表三种加拉帕戈斯巨龟(Chelonoidis spp。)的种群之间遗传分化的影响。尽管微卫星和线粒体DNA分析支持了这些物种的独特性,但最近的一项研究质疑这些标记与基因组SNP数据的匹配程度如何,从而质疑了数十年来在非模型生物中的研究。使用来自三个加拉帕戈斯巨龟物种的30个个体的> 20,000个全基因组SNP,我们发现了与传统遗传标记所描述的关系相匹配的独特结构。此外,我们确认可以使用数千个SNP和2–5个个体或数百个SNP和10个个体来获得高度结构化自然种群中遗传分化的准确估计,但前提是必须以以下方式描述分析单位:与进化史一致。我们表明,在最近的基于SNP的研究中缺乏结构性可能是由于个体的不自然分组和错误的基因型过滤。我们的研究表明,即使每个人群只有很少的样本,基因组数据也可以阐明人群之间的遗传分化模式,并强调了抽样设计的重要性。这些结果对研究濒危物种的种群结构以及随后的管理决策具有特殊的意义。

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