Great ape genetic diversity and population history.
Great ape genetic diversity and population history.
复制标题
作者：
大多数类人猿的遗传变异仍然没有特征。然而，它的研究对于了解种群历史，，，，重组、选择和疾病易感性至关重要。在这里，我们对代表所有6种类人猿和7个亚种的79个野生和圈养出生的个体进行了高覆盖率的测序，并报告了8880万个单核苷酸多态性。我们的分析支持了每个物种中遗传上不同的种群，基因流动的信号，以及普通黑猩猩分为两个不同的群体：尼日利亚-喀麦隆/西部和中部/东部种群。我们发现几乎所有野生种群都存在广泛的近亲繁殖，其中东部大猩猩最为极端。推断出的有效种群大小随着时间的推移在不同的谱系中发生了根本性的变化，这似乎对几乎所有物种的基因或接近基因的遗传多样性有深远的影响。我们在整个人类和类人猿谱系中发现并分配了1982个功能丧失变异，确定了人类分支与类人猿系统发育中的其他内部分支相比，基因丧失的速度并没有不同。这一类人猿基因组多样性的综合目录为理解进化提供了框架，并为更有效地管理野生和圈养类人猿种群提供了资源。
Most great ape genetic variation remains uncharacterized,; however, its study is critical for understanding population history,,,, recombination, selection and susceptibility to disease,. Here we sequence to high coverage a total of 79 wild- and captive-born individuals representing all six great ape species and seven subspecies and report 88.8 million single nucleotide polymorphisms. Our analysis provides support for genetically distinct populations within each species, signals of gene flow, and the split of common chimpanzees into two distinct groups: Nigeria–Cameroon/western and central/eastern populations. We find extensive inbreeding in almost all wild populations, with eastern gorillas being the most extreme. Inferred effective population sizes have varied radically over time in different lineages and this appears to have a profound effect on the genetic diversity at, or close to, genes in almost all species. We discover and assign 1,982 loss-of-function variants throughout the human and great ape lineages, determining that the rate of gene loss has not been different in the human branch compared to other internal branches in the great ape phylogeny. This comprehensive catalogue of great ape genome diversity provides a framework for understanding evolution and a resource for more effective management of wild and captive great ape populations.