Entre els membres del The Genographic Consortium es troben els autors: Jaume Bertranpetit, David Comas, Marc Haber i Begoña Martínez Cruz

The human mitochondrial haplogroup C1 has a broad global distribution but is extremely rare in Europe today. Recent ancient DNA evidence has demonstrated its presence in European Mesolithic individuals. Three individuals from the 7,500 year old Mesolithic site of Yuzhnyy Oleni Ostrov, Western Russia, could be assigned to haplogroup C1 based on mitochondrial hypervariable region I sequences. However, hypervariable region I data alone could not provide enough resolution to establish the phylogenetic relationship of these Mesolithic haplotypes with haplogroup C1 mitochondrial DNA sequences found today in populations of Europe, Asia and the Americas. In order to obtain high-resolution data and shed light on the origin of this European Mesolithic C1 haplotype, we target-enriched and sequenced the complete mitochondrial genome of one Yuzhnyy Oleni Ostrov C1 individual. The updated phylogeny of C1 haplogroups indicated that the Yuzhnyy Oleni Ostrov haplotype represents a new distinct clade, provisionally coined “C1f”. We show that all three C1 carriers of Yuzhnyy Oleni Ostrov belong to this clade. No haplotype closely related to the C1f sequence could be found in the large current database of ancient and present-day mitochondrial genomes. Hence, we have discovered past human mitochondrial diversity that has not been observed in modern-day populations so far. The lack of positive matches in modern populations may be explained by under-sampling of rare modern C1 carriers or by demographic processes, population extinction or replacement, that may have impacted on populations of Northeast Europe since prehistoric times.

This research was supported by The Genographic Project, which is supported by funding from the National Geographic Society, IBM, and the Waitt Family Foundation. PB was funded by the Australian Research Council Linkage Project LP0882622 awarded to AC, and the Discovery Projects DP1095782 and DP130102158 awarded to WH and BL. OB was funded by the RAS Programmes ‘‘Molecular and cell biology’’, ‘‘Gene pool dynamics’’ and RFBR grants 13-04-01711, Cover Letter 13-06-0067