Whole mitochondrial genome genetic diversity in an Estonian population sample

Stoljarova, Monika; King, Jonathan L.; Takahashi, Maiko; Aaspõllu, Anu; Budowle, Bruce

doi:10.1007/s00414-015-1249-4

Cited by 37 publications

(18 citation statements)

References 34 publications

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“…The homoplasmic variant distribution among 186 samples is presented in Table 3 . The variants were found in the coding region predominantly (25.90% in the control region and 74.10% in the coding region on average), which was similar to other populations ( 10 14 ). The proportion of variants within each haplogroup was diverse, particularly the smallest in Haplogroup B4 (39.77% in the control region and 60.23% in the coding region) and the largest in Haplogroup M9;G;D (17.88% in the control region and 82.12% in the coding region).…”

Section: Resultssupporting

confidence: 79%

“…For example, King et al ( 10 ) differentiated US Caucasian, Hispanic, and African Americans using complete mGenome sequencing. Moreover, another study presented results that showed increased genetic diversity from 95.85% based on the HV1/2 region sequence to 99.67% with MPS in the Estonian population ( 14 ). Considering the variation among different ethnic groups, the understanding of genetic diversity for specific populations is mandatory, not only for research but for practical applications such as human identification ( 15 ).…”

Section: Introductionmentioning

confidence: 98%

“…The introduction of massively parallel sequencing (MPS) has made mtDNA research more accessible to target whole regions of mtDNA, even with a substantial increase in throughput and depth of coverage ( 10 ). For forensic purposes, the MPS sequencing performance has been evaluated ( 10 11 12 13 ), and data for different ethnic populations have been reported ( 10 14 ). For example, King et al ( 10 ) differentiated US Caucasian, Hispanic, and African Americans using complete mGenome sequencing.…”

Section: Introductionmentioning

confidence: 99%

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Entire Mitochondrial DNA Sequencing on Massively Parallel Sequencing for the Korean Population

et al. 2017

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Mitochondrial DNA (mtDNA) genome analysis has been a potent tool in forensic practice as well as in the understanding of human phylogeny in the maternal lineage. The traditional mtDNA analysis is focused on the control region, but the introduction of massive parallel sequencing (MPS) has made the typing of the entire mtDNA genome (mtGenome) more accessible for routine analysis. The complete mtDNA information can provide large amounts of novel genetic data for diverse populations as well as improved discrimination power for identification. The genetic diversity of the mtDNA sequence in different ethnic populations has been revealed through MPS analysis, but the Korean population not only has limited MPS data for the entire mtGenome, the existing data is mainly focused on the control region. In this study, the complete mtGenome data for 186 Koreans, obtained using Ion Torrent Personal Genome Machine (PGM) technology and retrieved from rather common mtDNA haplogroups based on the control region sequence, are described. The results showed that 24 haplogroups, determined with hypervariable regions only, branched into 47 subhaplogroups, and point heteroplasmy was more frequent in the coding regions. In addition, sequence variations in the coding regions observed in this study were compared with those presented in other reports on different populations, and there were similar features observed in the sequence variants for the predominant haplogroups among East Asian populations, such as Haplogroup D and macrohaplogroups M9, G, and D. This study is expected to be the trigger for the development of Korean specific mtGenome data followed by numerous future studies.

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Section: Resultssupporting

confidence: 79%

Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

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Entire Mitochondrial DNA Sequencing on Massively Parallel Sequencing for the Korean Population

et al. 2017

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“…However in these studies just hypervariable regions (HVR) of the mtDNA were analyzed, and more reliable Next Generation Sequencing (NGS) data [ 15 ] have not been available from the Conquerors yet. Entire mitochondrial genome sequences enable a much higher resolution analysis, as most variable sites of mtDNA are located outside HVR [ 16 ].…”

Section: Introductionmentioning

confidence: 99%

Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians

et al. 2018

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It has been widely accepted that the Finno-Ugric Hungarian language, originated from proto Uralic people, was brought into the Carpathian Basin by the conquering Hungarians. From the middle of the 19th century this view prevailed against the deep-rooted Hungarian Hun tradition, maintained in folk memory as well as in Hungarian and foreign written medieval sources, which claimed that Hungarians were kinsfolk of the Huns. In order to shed light on the genetic origin of the Conquerors we sequenced 102 mitogenomes from early Conqueror cemeteries and compared them to sequences of all available databases. We applied novel population genetic algorithms, named Shared Haplogroup Distance and MITOMIX, to reveal past admixture of maternal lineages. Our results show that the Conquerors assembled from various nomadic groups of the Eurasian steppe. Population genetic results indicate that they had closest connection to the Onogur-Bulgar ancestors of Volga Tatars. Phylogenetic results reveal that more than one third of the Conqueror maternal lineages were derived from Central-Inner Asia and their most probable ultimate sources were the Asian Scythians and Asian Huns, giving support to the Hungarian Hun tradition. The rest of the lineages most likely originated from the Bronze Age Potapovka-Poltavka-Srubnaya cultures of the Pontic-Caspian steppe. Available data imply that the Conquerors did not have a major contribution to the gene pool of the Carpathian Basin.

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“…It is notable that in the latest studies [12,13] population genetic analysis also indicated considerable Central Asian affinity of the Conquerors. However all these studies applied low resolution, error prone PCR based aDNA methods [15] and high resolution Next Generation Sequencing (NGS) data from the Conquerors has not been available yet, though power of discrimination of the entire mitochondrial genome over the hypervariable regions (HVR) has been shown to be huge [16].…”

Section: Introductionmentioning

confidence: 99%

Mitogenomic data indicate admixture components of Asian Hun and Srubnaya origin in the Hungarian Conquerors

Neparáczki

Maróti

Kalmár

et al. 2018

Preprint

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Endre Neparáczki and Zoltán Maróti contributed equally to this study. Key words:ancient DNA, early Hungarian, next generation sequencing, hybridization capture, Shared Haplogroup Distance, Mitomix AbstractIt has been widely accepted that the Finno-Ugric Hungarian language, originated from proto Uralic people, was brought into the Carpathian Basin by the Hungarian Conquerors. From the middle of the 19 th century this view prevailed against the deep-rooted Hungarian Hun tradition, maintained in folk memory as well as in Hungarian and foreign written medieval sources, which claimed that Hungarians were kinsfolk of the Huns. In order to shed light on the genetic origin of the Conquerors we sequenced 102 mitogenomes from early Conqueror cemeteries and compared them to sequences of all available databases. We applied novel population genetic algorithms, named Shared Haplogroup Distance and MITOMIX, to reveal past admixture of maternal lineages. Phylogenetic and population genetic analysis indicated that more than one third of the Conqueror maternal lineages were derived from Central-Inner Asia and their most probable ultimate sources were the Asian Huns. The rest of the lineages most likely originated from the Bronze Age PotapovkaPoltavka-Srubnaya cultures of the Pontic-Caspian steppe, which area was part of the later European Hun empire. Our data give support to the Hungarian Hun tradition and provides indirect evidence for the genetic connection between Asian and European Huns.

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Whole mitochondrial genome genetic diversity in an Estonian population sample

Cited by 37 publications

References 34 publications

Entire Mitochondrial DNA Sequencing on Massively Parallel Sequencing for the Korean Population

Entire Mitochondrial DNA Sequencing on Massively Parallel Sequencing for the Korean Population

Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians

Mitogenomic data indicate admixture components of Asian Hun and Srubnaya origin in the Hungarian Conquerors

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