title: Mitochondrial genome sequencing in Mesolithic North East Europe Unearths a new sub-clade within the broadly distributed human haplogroup C1.
abstract: 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.
authors: Australian Centre for Ancient DNA, School of Earth and Environmental Sciences, University of Adelaide, Adelaide, South Australia, Australia.
authors: Clio
authors: C
authors: Der Sarkissian
authors: Australian Centre for Ancient DNA, School of Earth and Environmental Sciences, University of Adelaide, Adelaide, South Australia, Australia.
authors: Paul
authors: P
authors: Brotherton
authors: Vavilov Institute for General Genetics, Russian Academy of Sciences, Moscow, Russia ; Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia.
authors: Oleg
authors: O
authors: Balanovsky
authors: Australian Centre for Ancient DNA, School of Earth and Environmental Sciences, University of Adelaide, Adelaide, South Australia, Australia.
authors: Jennifer E L
authors: JE
authors: Templeton
authors: Australian Centre for Ancient DNA, School of Earth and Environmental Sciences, University of Adelaide, Adelaide, South Australia, Australia.
authors: Bastien
authors: B
authors: Llamas
authors: Australian Centre for Ancient DNA, School of Earth and Environmental Sciences, University of Adelaide, Adelaide, South Australia, Australia.
authors: Julien
authors: J
authors: Soubrier
authors: Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) RAS, St Petersburg, Russia.
authors: Vyacheslav
authors: V
authors: Moiseyev
authors: Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) RAS, St Petersburg, Russia.
authors: Valery
authors: V
authors: Khartanovich
authors: Australian Centre for Ancient DNA, School of Earth and Environmental Sciences, University of Adelaide, Adelaide, South Australia, Australia.
authors: Alan
authors: A
authors: Cooper
authors: Australian Centre for Ancient DNA, School of Earth and Environmental Sciences, University of Adelaide, Adelaide, South Australia, Australia.
authors: Wolfgang
authors: W
authors: Haak
mesh_terms: D016000:Cluster Analysis; D004272:DNA, Mitochondrial; D005060:Europe; D005828:Genetics, Population; D054629:Genome, Mitochondrial; D005843:Geography; D006239:Haplotypes; D006801:Humans; D010802:Phylogeny; D011157:Population Dynamics; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial