Mitochondrial genome sequencing in mesolithic North East Europe unearths a new sub-clade within the broadly distributed human haplogroup C1

Simple item page
dc.contributor.authorDer Sarkissian, C.
dc.contributor.authorBrotherton, P.
dc.contributor.authorBalanovsky, O.
dc.contributor.authorTempleton, J.
dc.contributor.authorLlamas, B.
dc.contributor.authorSoubrier, J.
dc.contributor.authorMoiseyev, V.
dc.contributor.authorKhartanovich, V.
dc.contributor.authorCooper, A.
dc.contributor.authorHaak, W.
dc.contributor.authorGenographic Consortium,
dc.contributor.editorAchilli, A.
dc.date.issued2014
dc.description.abstractThe 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.
dc.description.statementofresponsibilityClio Der Sarkissian, Paul Brotherton, Oleg Balanovsky, Jennifer E. L. Templeton, Bastien Llamas, Julien Soubrier, Vyacheslav Moiseyev, Valery Khartanovich, Alan Cooper, Wolfgang Haak, The Genographic Consortium
dc.identifier.citationPLoS One, 2014; 9(2):e87612-1-e87612-10
dc.identifier.doi10.1371/journal.pone.0087612
dc.identifier.issn1932-6203
dc.identifier.issn1932-6203
dc.identifier.orcidLlamas, B. [0000-0002-5550-9176]
dc.identifier.orcidSoubrier, J. [0000-0001-9350-7369]
dc.identifier.orcidCooper, A. [0000-0002-7738-7851]
dc.identifier.orcidHaak, W. [0000-0003-2475-2007]
dc.identifier.urihttp://hdl.handle.net/2440/95804
dc.language.isoen
dc.publisherPublic Library of Science
dc.relation.granthttp://purl.org/au-research/grants/arc/LP0882622
dc.relation.granthttp://purl.org/au-research/grants/arc/DP1095782
dc.relation.granthttp://purl.org/au-research/grants/arc/DP130102158
dc.rights© 2014 Der Sarkissian et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
dc.source.urihttps://doi.org/10.1371/journal.pone.0087612
dc.subjectGenographic Consortium
dc.subjectHumans
dc.subjectDNA, Mitochondrial
dc.subjectCluster Analysis
dc.subjectSequence Analysis, DNA
dc.subjectGenetics, Population
dc.subjectPopulation Dynamics
dc.subjectPhylogeny
dc.subjectHaplotypes
dc.subjectGeography
dc.subjectEurope
dc.subjectGenome, Mitochondrial
dc.subjectWhite People
dc.titleMitochondrial genome sequencing in mesolithic North East Europe unearths a new sub-clade within the broadly distributed human haplogroup C1
dc.typeJournal article
pubs.publication-statusPublished

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
hdl_95804.pdf
Size:
971.1 KB
Format:
Adobe Portable Document Format
Description:
Published version
Download

Collections

Genetics publications