Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past

作者：Olivieri Anna; Sidore Carlo; Achilli Alessandro; Angius Andrea; Posth Cosimo; Furtwaengler 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 Goncalo R

来源：Molecular Biology and Evolution, 2017, 34(5): 1230-1239.

DOI：10.1093/molbev/msx082

• mitochondrial genomes
• mitochondrial DNA phylogeny
• haplogroups
• prehistory of Sardinia
• origins of Europeans

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.

• 出版日期2017-5