Tracing European Founder Lineages in the Near Eastern mtDNA Pool

Richards, Martin B.; Macaulay, Vincent; Hickey, Eileen; Vega, Emilce; Sykes, Bryan; Guida, Valentina; Rengo, Chiara; Sellitto, Daniele; Cruciani, Fulvio; Kivisild, Toomas; Villems, Richard; Thomas, Mark G.; Rychkov, S. Yu.; Rychkov, Oksana; Rychkov, Yuri; Gölge, Mukaddes; Dimitrov, Dimitar; Hill, E. W.; Bradley, Dan; Romano, Valentino; Calı̀, Francesco; Vona, Giuseppe; Demaine, Andrew G.; Papiha, S. S.; Triantaphyllidis, Costas; Stefanescu, Gheorghe; Hatina, Jiřı́; Belledi, Michele; Rienzo, Anna Di; Novelletto, Andrea; Oppenheim, Ariella; Nørby, Søren; Al-Zaheri, Nadia; Santachiara-Benerecetti, Silvana; Scozzari, Rosaria; Torroni, Antonio; Bandelt, Hans‐Jürgen

doi:10.1016/s0002-9297(07)62954-1

Cited by 765 publications

(430 citation statements)

References 73 publications

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“…Our results are concordant with previous mtDNA control region reports conforming of the prevalence of haplogroup H and U in the Estonian population [32,33]. While haplogroup H was introduced to Europe from the Franco-Cantabrian region, haplogroup U5, which was observed in 13 of our samples (11.4 %), is thought to have evolved in situ [32,17]. Haplogroup U4 has been reported in the Eastern Baltic Sea region with a frequency up to 8.8 % and associated with Volga-Ural influence [16].…”

Section: Resultssupporting

confidence: 93%

“…Haplogroups D, R, and X were seen once. Haplogroups HV and U are the most represented haplogroups in the European population with the estimated frequency of ≥50 and ≥20 %, respectively [17]. Our results are concordant with previous mtDNA control region reports conforming of the prevalence of haplogroup H and U in the Estonian population [32,33].…”

Section: Resultssupporting

confidence: 91%

“…Despite that fact that the Estonian population data has been used for migration studies based on its mtDNA HVI region and a number of coding region single nucleotide polymorphisms [17,18,16], to the best of our knowledge there are no published whole mtGenome data. The objective of this study was to describe the genetic variability of mtGenome in an Estonian population sample and to compare the discrimination power of mtGenome with solely HVI/HVII data.…”

Section: Introductionmentioning

confidence: 99%

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Whole mitochondrial genome genetic diversity in an Estonian population sample

et al. 2015

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Mitochondrial DNA is a useful marker for population studies, human identification, and forensic analysis. Commonly used hypervariable regions I and II (HVI/HVII) were reported to contain as little as 25% of mitochondrial DNA variants and therefore the majority of power of discrimination of mitochondrial DNA resides in the coding region. Massively parallel sequencing technology enables entire mitochondrial genome sequencing. In this study, buccal swabs were collected from 114 unrelated Estonians and whole mitochondrial genome sequences were generated using the Illumina MiSeq system. The results are concordant with previous mtDNA control region reports of high haplogroup HV and U frequencies (47.4 and 23.7% in this study, respectively) in the Estonian population. One sample with the Northern Asian haplogroup D was detected. The genetic diversity of the Estonian population sample was estimated to be 99.67 and 95.85%, for mtGenome and HVI/HVII data, respectively. The random match probability for mtGenome data was 1.20 versus 4.99% for HVI/HVII. The nucleotide mean pairwise difference was 27 ± 11 for mtGenome and 7 ± 3 for HVI/HVII data. These data describe the genetic diversity of the Estonian population sample and emphasize the power of discrimination of the entire mitochondrial genome over the hypervariable regions.

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Section: Resultssupporting

confidence: 93%

Section: Resultssupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

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Whole mitochondrial genome genetic diversity in an Estonian population sample

et al. 2015

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“…Person-to-person variations in the HVSI were recorded, and their importance in the forensic analyses and population genetics were recorded. The results revealed that the genetic pattern of the seven tribes of Mansehra and Abbottabad districts is similar to that observed in West Eurasia in a previous report (Richards et al, 2000;Achilli et al, 2004;Metspalu et al, 2004;Pereira et al, 2005;Rajkumar et al, 2005). Moreover, we discovered that the ancestral node of the phylogenetic tree of all mtDNA types was typically in Central Asia; Middle Eastern and European phylogenies were also found in South Asia at relatively high frequencies.…”

Section: Discussionsupporting

confidence: 87%

HVSI polymorphism indicates multiple origins of mtDNA in the Hazarewal population of Northern Pakistan

Akbar¹,

Ahmad²,

Nadeem³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Mitochondrial DNA (mtDNA) is an important tool used to explore ethnogenetics and the evolutionary history of human populations. In this study, hypervariable segment I (HVSI) from mtDNA was analyzed to establish the genetic lineage of the Hazarewal populations residing in the Mansehra and Abbottabad districts of Northern Pakistan. HVSI was extracted from genetic specimens obtained from 225 unrelated male and female individuals belonging to seven distinct Pakistani ethnic groups (31 Abbassis, 44 Awans, 38 Gujars, 16 Jadoons, 23 Karlals, 33 Syeds, and 40 Tanolis). Eighty-three haplogroups, 39 of which were unique, were identified; haplogroup H was predominantly represented (in 40% of the people), followed by haplogroups M (21.78%), R (16.89%), N (15.56%), L (3.11%), and HV (2.67%). The results revealed a sex-biased genetic contribution from putative West Eurasian, South Asian, and Sub-Saharan populations to the genetic lineage of Hazarewal ancestry, with the effect of Eurasians being predominant. The HVSI nucleotide sequences exhibited some characteristic deletion mutations between 16,022 and 16,193 bp, which is characteristic of specific ethnic groups. HVSI sequence homology showed that Hazarewal populations fall into three major clusters: Syeds and Awans sorted out into cluster I; Tanolis, Gujars, and Karlals segregated in cluster II; and Abbassis and Jadoons in cluster III. Here, we have reported the firsthand genetic information and evolutionary sketch of the selected populations residing alongside the historical Silk Route, which provides a baseline for collating the origin, route of migration, and phylogenetics of the population.

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“…The mitochondrial haplogroup H occurs with a frequency of 46% in Europe as a whole (Richards et al 2000). H1b is found throughout the area of haplogroup H, but more frequently in Eastern Europe and North Central Europe (7 and 5% of H, respectively) (Loogväli et al 2004).…”

Section: Discussionmentioning

confidence: 99%

DNA profiling of Hungarian King Béla III and other skeletal remains originating from the Royal Basilica of Székesfehérvár

Olasz

Seidenberg²,

Hummel³

et al. 2018

Archaeol Anthropol Sci

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A few decades after the collapse of the Avar Khaganate (c. 822 AD), Hungarian invaders conquered the Carpathian Basin (c. 862-895 AD). The first Hungarian ruling dynasty, the Árpáds played an important role in European history during the Middle Ages. King Béla III (1172-1196) was one of the most significant rulers of the dynasty. He also consolidated Hungarian dominance over the Northern Balkans. The provostry church of the Virgin Mary (commonly known as the Royal Basilica of Székesfehérvár) played a prominent role as a coronation church and burial place of medieval Hungarian kings. The basilica's building and graves had been destroyed over the centuries. The only royal graves that remained intact were those of King Béla III and his first spouse, Anna of Antioch. These graves were discovered in 1848. We defined the autosomal STR (short tandem repeat) fingerprints of the royal couple and eight additional individuals (two females and six males) found in the Royal Basilica. These results revealed no evidence of first-degree relationship between any of the investigated individuals. Y-chromosomal STR profiles were also established for all the male skeletons. Based upon the Y-chromosomal data, one male skeleton showed an obvious patrilineal relationship to King Béla III. A database search uncovered an existing Y-chromosomal haplotype, which had a single-repeat difference compared to that of King Béla. It was discovered in a person living in an area close to Hungary. This current male line is probably related paternally to the Árpád Dynasty. The control region of the mitochondrial DNA was determined in the royal couple and in the remains of the inferred relative. The mitochondrial results excluded sibling relationship between the King and the patrilineal relative. In summary, we successfully defined a Y-chromosomal profile of King Béla III, which can serve as a reference for the identification of further remains and disputed living descendants of the Árpád Dynasty. Among the examined skeletons, we discovered an Árpád member, whose exact affiliation, however, has not yet been established.

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Tracing European Founder Lineages in the Near Eastern mtDNA Pool

Cited by 765 publications

References 73 publications

Whole mitochondrial genome genetic diversity in an Estonian population sample

Whole mitochondrial genome genetic diversity in an Estonian population sample

HVSI polymorphism indicates multiple origins of mtDNA in the Hazarewal population of Northern Pakistan

DNA profiling of Hungarian King Béla III and other skeletal remains originating from the Royal Basilica of Székesfehérvár

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