Data from: The population genomics of archaeological transition in west Iberia: investigation of ancient substructure using imputation and haplotype-based methods

We analyse new genomic data (0.05–2.95x) from 14 ancient individuals from Portugal distributed from the Middle Neolithic (4200–3500 BC) to the Middle Bronze Age (1740–1430 BC) and impute genomewide diploid genotypes in these together with published ancient Eurasians. While discontinuity is evident in the transition to agriculture across the region, sensitive haplotype-based analyses suggest a significant degree of local hunter-gatherer contribution to later Iberian Neolithic populations. A more subtle genetic influx is also apparent in the Bronze Age, detectable from analyses including haplotype sharing with both ancient and modern genomes, D-statistics and Y-chromosome lineages. However, the limited nature of this introgression contrasts with the major Steppe migration turnovers within third Millennium northern Europe and echoes the survival of non-Indo-European language in Iberia. Changes in genomic estimates of individual height across Europe are also associated with these major cultural transitions, and ancestral components continue to correlate with modern differences in stature.

本研究对14例来自葡萄牙的古人类样本的全新基因组数据（测序覆盖度为0.05–2.95×）进行了分析，样本年代跨度从中新石器时代（公元前4200–3500年）至中青铜时代（公元前1740–1430年）；同时联合已发表的古欧亚人群基因组数据，对所有样本开展全基因组二倍体基因型填充（genotype imputation）。尽管该区域农业转型过程中存在显著的遗传不连续性，但基于灵敏单倍型（haplotype）的分析结果表明，当地狩猎采集者对后续伊比利亚新石器时代人群存在可观的遗传贡献。青铜时代还存在更为隐蔽的遗传流入事件，可通过多种分析手段检出：包括与古、现代基因组的单倍型共享分析、D统计量（D-statistics）以及Y染色体谱系（Y-chromosome lineages）分析。然而，此次基因渐渗（introgression）的规模有限，与公元前第三个千年北欧地区发生的大规模欧亚草原（Steppe）移民替代形成鲜明反差，这一现象也呼应了伊比利亚地区非印欧语言的存续状态。欧洲各地基于基因组预测的个体身高变化同样与这些重大文化转型相关，且人群祖先组分仍与现代人群的身高差异存在显著关联。