Olivieri Anna, Sidore Carlo, Achilli Alessandro, Angius Andrea, Posth Cosimo, Furtwängler Anja, Brandini Stefania, Capodiferro Marco Rosario, Gandini Francesca, Zoledziewska Magdalena, Pitzalis Maristella, Maschio Andrea, Busonero Fabio, Lai Luca, Skeates Robin, Gradoli Maria Giuseppina, Beckett Jessica, Marongiu Michele, Mazzarello Vittorio, Marongiu Patrizia, Rubino Salvatore, Rito Teresa, Macaulay Vincent, Semino Ornella, Pala Maria, Abecasis Gonçalo R, Schlessinger David, Conde-Sousa Eduardo, Soares Pedro, Richards Martin B, Cucca Francesco, Torroni Antonio
Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy.
Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.
Mol Biol Evol. 2017 May 1;34(5):1230-1239. doi: 10.1093/molbev/msx082.
Sardinians are "outliers" in the European genetic landscape and, according to paleogenomic nuclear data, the closest to early European Neolithic farmers. To learn more about their genetic ancestry, we analyzed 3,491 modern and 21 ancient mitogenomes from Sardinia. We observed that 78.4% of modern mitogenomes cluster into 89 haplogroups that most likely arose in situ. For each Sardinian-specific haplogroup (SSH), we also identified the upstream node in the phylogeny, from which non-Sardinian mitogenomes radiate. This provided minimum and maximum time estimates for the presence of each SSH on the island. In agreement with demographic evidence, almost all SSHs coalesce in the post-Nuragic, Nuragic and Neolithic-Copper Age periods. For some rare SSHs, however, we could not dismiss the possibility that they might have been on the island prior to the Neolithic, a scenario that would be in agreement with archeological evidence of a Mesolithic occupation of Sardinia.
撒丁岛人在欧洲基因图谱中属于“异类”,根据古基因组核数据,他们与早期欧洲新石器时代农民最为接近。为了更多地了解他们的基因谱系,我们分析了来自撒丁岛的3491个现代线粒体基因组和21个古代线粒体基因组。我们观察到,78.4%的现代线粒体基因组聚类为89个单倍群,这些单倍群很可能是在当地起源的。对于每个撒丁岛特有的单倍群(SSH),我们还在系统发育中确定了上游节点,非撒丁岛线粒体基因组从该节点辐射出去。这为每个SSH在该岛上的存在提供了最小和最大时间估计。与人口统计学证据一致,几乎所有的SSH都在努拉吉时代之后、努拉吉时代和新石器时代-铜器时代合并。然而,对于一些罕见的SSH,我们不能排除它们在新石器时代之前就可能已在该岛上的可能性,这一情况将与撒丁岛中石器时代居住的考古证据相吻合。