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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Sequence variations in the public human genome data reflect a bottlenecked population history
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Sequence variations in the public human genome data reflect a bottlenecked population history

机译：人类公共基因组数据中的序列变异反映了人口瓶颈

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Single-nucleotide polymorphisms (SNPs) constitute the great majority of variations in the human genome, and as heritable variable landmarks they are useful markers for disease mapping and resolving population structure. Redundant coverage in overlaps of large-insert genomic clones, sequenced as part of the Human Genome Project, comprises a quarter of the genome, and it is representative in terms of base compositional and functional sequence features. We mined these regions to produce 500,000 high-confidence SNP candidates as a uniform resource for describing nucleotide diversity and its regional variation within the genome. Distributions of marker density observed at different overlap length scales under a model of recombination and population size change show that the history of the population represented by the public genome sequence is one of collapse followed by a recent phase of mild size recovery. The inferred times of collapse and recovery are Upper Paleolithic, in agreement with archaeological evidence of the initial modern human colonization of Europe. [References: 34]
机译：单核苷酸多态性（SNP）构成了人类基因组中的绝大多数变异，并且作为可遗传的可变地标，它们是疾病作图和解决种群结构的有用标记。作为人类基因组计划的一部分进行测序的大插入基因组克隆重叠部分的冗余覆盖，占基因组的四分之一，在碱基组成和功能序列特征方面具有代表性。我们开采了这些区域，以产生500,000个高可信度SNP候选物，作为描述核苷酸多样性及其在基因组中区域变异的统一资源。在重组和种群大小变化的模型下，在不同重叠长度尺度上观察到的标记物密度分布显示，以公共基因组序列为代表的种群历史是崩溃，随后是轻度大小恢复的新阶段。推算的崩塌和恢复时间是旧石器时代，与考古学证据相一致，证明了欧洲最初的现代人类殖民统治。 [参考：34]

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