Sikora Martin, Carpenter Meredith L, Moreno-Estrada Andres, Henn Brenna M, Underhill Peter A, Sánchez-Quinto Federico, Zara Ilenia, Pitzalis Maristella, Sidore Carlo, Busonero Fabio, Maschio Andrea, Angius Andrea, Jones Chris, Mendoza-Revilla Javier, Nekhrizov Georgi, Dimitrova Diana, Theodossiev Nikola, Harkins Timothy T, Keller Andreas, Maixner Frank, Zink Albert, Abecasis Goncalo, Sanna Serena, Cucca Francesco, Bustamante Carlos D
Department of Genetics, Stanford University, Stanford, California, United States of America.
Institute of Evolutionary Biology (CSIC-UPF), PRBB, Barcelona, Spain.
PLoS Genet. 2014 May 8;10(5):e1004353. doi: 10.1371/journal.pgen.1004353. eCollection 2014 May.
Genome sequencing of the 5,300-year-old mummy of the Tyrolean Iceman, found in 1991 on a glacier near the border of Italy and Austria, has yielded new insights into his origin and relationship to modern European populations. A key finding of that study was an apparent recent common ancestry with individuals from Sardinia, based largely on the Y chromosome haplogroup and common autosomal SNP variation. Here, we compiled and analyzed genomic datasets from both modern and ancient Europeans, including genome sequence data from over 400 Sardinians and two ancient Thracians from Bulgaria, to investigate this result in greater detail and determine its implications for the genetic structure of Neolithic Europe. Using whole-genome sequencing data, we confirm that the Iceman is, indeed, most closely related to Sardinians. Furthermore, we show that this relationship extends to other individuals from cultural contexts associated with the spread of agriculture during the Neolithic transition, in contrast to individuals from a hunter-gatherer context. We hypothesize that this genetic affinity of ancient samples from different parts of Europe with Sardinians represents a common genetic component that was geographically widespread across Europe during the Neolithic, likely related to migrations and population expansions associated with the spread of agriculture.
1991年在意大利和奥地利边境附近的冰川上发现的有着5300年历史的蒂罗尔冰人木乃伊的基因组测序，为他的起源以及与现代欧洲人群的关系带来了新的见解。该研究的一个关键发现是，基于Y染色体单倍群和常见的常染色体单核苷酸多态性变异，他与撒丁岛人有着明显的近代共同祖先。在此，我们汇编并分析了现代和古代欧洲人的基因组数据集，包括来自400多名撒丁岛人的基因组序列数据以及来自保加利亚的两名古代色雷斯人的数据，以更详细地研究这一结果，并确定其对新石器时代欧洲基因结构的影响。利用全基因组测序数据，我们证实冰人确实与撒丁岛人关系最为密切。此外，我们表明这种关系延伸到了新石器时代过渡期间与农业传播相关文化背景中的其他个体，这与来自狩猎采集文化背景的个体形成对比。我们推测，欧洲不同地区古代样本与撒丁岛人的这种基因亲和力代表了一种在新石器时代遍布欧洲的共同基因成分，可能与农业传播相关的移民和人口扩张有关。
