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27,566个冰岛基因组揭示了尼安德特人的内向性质

Laurits Skov^1,2, Moisès Coll Macià³, Garðar Sveinbjörnsson⁴

¹Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark. laurits_skov@eva.mpg.de.

|June 5, 2020

概括

人类基因组含有来自古代杂交的尼安德特人DNA. 这项研究分析了冰岛的基因组,

科学领域:

古遗传学
人类进化生物学
人口遗传学

背景情况:

人类的进化历史涉及不同种群之间的杂交.
大多数非非洲人拥有约2%的尼安德特人DNA,

研究的目的:

在冰岛的一大群中调查古老混合物的影响和程度.
描述尼安德特人和丹尼索瓦人的DNA碎片的起源和频率.
探索丹尼索瓦人的基因流动及其对人类进化的影响.

主要方法:

分析了27566名冰岛人的全基因组序列中的1440万个古老染色体碎片.
使用已知的古老基因组 (阿尔泰尼安德特人,Vindija尼安德特人,丹尼索瓦人) 的相似性来分配碎片起源.
古老和非古老碎片突变率和类型的比较.
对271个人类表型的古老变体的关联分析.

主要成果:

每个个体识别了56,388-112,709个独特的古老片段,覆盖了可调用的基因组的38.0-48.2%.
其中84.5%的碎片归属于尼安德特人 (阿尔泰或文迪亚),3.3%归属于丹尼索瓦人.
在冰岛人中观察到更高比预期的丹尼索瓦基因碎片,
在人类和尼安德特人之间发现了相似的总体突变率,
报告了由古老变体驱动的5种表型关联,大多数先前报告的关联更好地由非古老变体解释.

结论:

冰岛人携带大量尼安德特人和丹尼索瓦人的DNA, 有直接的丹尼索瓦基因流动的证据.
比较突变分析揭示了人类与尼安德特人之间代代间隔的潜在差异.
古老变种对人类表型有有限但可检测的影响,许多以前归因的关联是非古老的.

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