mtDNA Research Papers - Academia.edu (original) (raw)

A strong clinal change in salinity occurs between the Baltic Sea and the North Sea, Atlantic Ocean, in the Danish Straits, where hybridization zone between mussels Mytilus edulis and M. trossulus has been reported. Eleven samples of... more

A strong clinal change in salinity occurs between the Baltic Sea and the North Sea, Atlantic Ocean, in the Danish Straits, where hybridization zone between mussels Mytilus edulis and M. trossulus has been reported. Eleven samples of mussels were studied from the Danish Straits and the inner Baltic Sea. Extensive introgression of M. edulis alleles from the North Sea into populations throughout the Baltic was ascertained for mitochondrial DNA (mtDNA) and two nuclear markers (ME15–16 and ITS). In the opposite direction, introgression of M. trossulus alleles into the M. edulis background was observed at the EFbis nuclear marker in populations from Kattegat (Danish Straits). While only M. edulis F (female) mtDNA was present in the Baltic, there were still strong differences in frequencies in the control region length variants between the Danish Straits and the inner Baltic samples, and weaker variation in coding region ND2–COIII haplotype frequencies. In the assays of the two mtDNA regions, various patterns of heteroplasmy were detected in 32% of all the studied individual mussels; this includes the presence of distinct, independently inherited M and F mitochondria in males, as well as the presence of two different distinguishable F genomes. The male-inherited M mtDNA genomes are quite common in the mussels from the Danish Straits, but very rare in males from the inner Baltic. Instead, a recombined control region variant (1r), which seems to have taken over the role of the M genome, was present in a number of specimens in the Baltic. Observations of heteroplasmy for two F genomes in some females and males confirm disruptions of the doubly uniparental inheritance mechanism in the hybrid Baltic Mytilus.

Now published at DOI: 10.1098/rsbl.2016.0876

Chernov S.Z., Goncharova N.N., Semenov A.S. Results of determination of Y-DNA haplogroups for a medieval Slavic burial site of the 12th century in the vicinity of the village of Degtyarevka, Bryansk region. The aim of the study is to... more

Chernov S.Z., Goncharova N.N., Semenov A.S. Results of determination of Y-DNA haplogroups for a medieval Slavic burial site of the 12th century in the vicinity of the village of Degtyarevka, Bryansk region. The aim of the study is to establish the Y-DNA haplogroups of a medieval Slavic burial mound of the XII century near the village of Degtyareva, Bryansk region (the valley of the Iput River). The archaeological and anthropological contexts of the monument are described. The predicted belonging of the individual to the Y-haplogroup T allows us to assume the participation of the ancient "Neolithic package" of the Southern European gene pool in the male line of the buried ancestor. This participation could be connected either with the ancestors of the Slavs-Radimichi or with the ancestors of the autochthonous population, whose traditions are made known by the Radimichi burials with an eastern orientation. Цель исследования – установить гаплогруппы Y-ДНК средневекового славянского курганного погребения XII в. близ с. Дегтяревка Брянской обл. на р. Ипуть. Описан археологический и антропологический контекст памятника. Прогнозируемая принадлежность индивидуума к Y-гаплогруппе T позволяет предполагать участие древнего «неолитического пакета» южно-европейского генофонда в мужской линии предков погребенного. Это участие могло быть связано с предками славян-радимичей либо с предками автохтонного населения, о традициях которого дают знать радимичские погребения с восточной ориентировкой. Ключевые слова: палео-ДНК SNP и STR маркеры Y-хромосомы, гаплогруппы, секвенирование, восточные славяне.

Reunion Island is a French territory located in the western Indian Ocean. The genetic pattern of the Reunionese population has been shaped by contributions from highly contrasting regions of the world. Over the last 350 years, several... more

Reunion Island is a French territory located in the western Indian Ocean. The genetic pattern of the Reunionese population has been shaped by contributions from highly contrasting regions of the world. Over the last 350 years, several migration waves and cultural and socio-economic factors have led to the emergence of six main ethnic groups in Reunion. India is one of the principal regions that contributed to the setting up of the Reunionese population. Diversity, demographic and admixture analyses were performed on mtDNA variation of the Reunionese of Indian ancestry, including the Malbar and Zarab ethnic groups, in order to question their history. Using a phylogeographical approach, we generated and analysed quantitative data on the contribution of the Indian parental populations. Furthermore, we showed that the settlement of Reunion Island by Indians did not involve a founder effect, except in the very beginning of the Reunionese settlement (at the end of the 17th century). The accuracy of our results was optimised by a re-evaluation of the classification of the Southern Asian mtDNA haplogroups. Finally, by comparing our results to a previous study dealing with the Reunionese population, we highlighted how ethno-historical data are critical for reconstructing the complex history of multiethnic populations.

Ancient DNA is revealing new insights into the genetic relationship between Pleistocene hominins and modern humans. Nuclear DNA indicated Neanderthals as a sister group of Denisovans after diverging from modern humans. However, the closer... more

Ancient DNA is revealing new insights into the genetic relationship between Pleistocene hominins and modern humans. Nuclear DNA indicated Neanderthals as a sister group of Denisovans after diverging from modern humans. However, the closer affinity of the Neanderthal mitochondrial DNA (mtDNA) to modern humans than Denisovans has recently been suggested as the result of gene flow from an African source into Neanderthals before 100,000 years ago. Here we report the complete mtDNA of an archaic femur from the Hohlenstein–Stadel (HST) cave in southwestern Germany. HST carries the deepest divergent mtDNA lineage that splits from other Neanderthals B270,000 years ago, providing a lower boundary for the time of the putative mtDNA introgression event. We demonstrate that a complete Neanderthal mtDNA replacement is feasible over this time interval even with minimal hominin introgression. The highly divergent HST branch is indicative of greater mtDNA diversity during the Middle Pleistocene than in later periods.

Dispersion map of ancient and modern MtDNA H2a1 carriers

We investigated the bio-geographic ancestry of Argentineans, and quantified their genetic admixture, analyzing 246 unrelated male individuals from eight provinces of three Argentinean regions using ancestry-sensitive DNA markers (ASDM)... more

We investigated the bio-geographic ancestry of Argentineans, and quantified their genetic admixture, analyzing 246 unrelated male individuals from eight provinces of three Argentinean regions using ancestry-sensitive DNA markers (ASDM) from autosomal, Y and mitochondrial chromosomes. Our results demonstrate that European, Native American and African ancestry components were detectable in the contemporary Argentineans, the amounts depending on the genetic system applied, exhibiting large inter-individual heterogeneity. Argentineans carried a large fraction of European genetic heritage in their Y-chromosomal (94.1%) and autosomal (78.5%) DNA, but their mitochondrial gene pool is mostly of Native American ancestry (53.7%); instead, African heritage was small in all three genetic systems (<4%). Population substructure in Argentina considering the eight sampled provinces was very small based on autosomal (0.92% of total variation was between provincial groups, p = 0.005) and mtDNA (1.77%, p = 0.005) data (none with NRY data), and all three genetic systems revealed no substructure when clustering the provinces into the three geographic regions to which they belong. The complex genetic ancestry picture detected in Argentineans underscores the need to apply ASDM from all three genetic systems to infer geographic origins and genetic admixture. This applies to all worldwide areas where people with different continental ancestry live geographically close together.

The name “Wampanoag” means “Eastern People” or “People of the First Light” in the local dialect of the Algonquian language. Once extensively populating the coastal lands and neighboring islands of the eastern United States, the Wampanoag... more

The name “Wampanoag” means “Eastern People” or “People of the First Light” in the local dialect of the Algonquian language. Once extensively populating the coastal lands and neighboring islands of the eastern United States, the Wampanoag people now consist of two federally recognized tribes, the Aquinnah and Mashpee, the state-recognized Seaconke Wampanoag tribe, and a number of bands and clans in present-day southern Massachusetts. Because of repeated epidemics and conflicts with English colonists, including King Philip's War of 1675–76, and subsequent colonial laws forbidding tribal identification, the Wampanoag population was largely decimated, decreasing in size from as many as 12,000 individuals in the 16th century to less than 400, as recorded in 1677. To investigate the influence of the historical past on its biological ancestry and native cultural identity, we analyzed genetic variation in the Seaconke Wampanoag tribe. Our results indicate that the majority of their mtDNA haplotypes belongs to West Eurasian and African lineages, thus reflecting the extent of their contacts and interactions with people of European and African descent. On the paternal side, Y-chromosome analysis identified a range of Native American, West Eurasian, and African haplogroups in the population, and also surprisingly revealed the presence of a paternal lineage that appears at its highest frequencies in New Guinea and Melanesia. Comparison of the genetic data with genealogical and historical information allows us to reconstruct the tribal history of the Seaconke Wampanoag back to at least the early 18th century. Am J Phys Anthropol 142:579–589, 2010. © 2010 Wiley-Liss, Inc.

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... more

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.

[Overall Survey of the Saami maternal lineages] Saamelaisista on kerätty viime vuosikymmenten aikana lähes 1000 äitilinjanäytettä. Tästä laajasta aineistosta ei milloinkaan ole muodostettu kokonaiskuvaa, vaan geenitutkimuksissa on yleensä... more

[Overall Survey of the Saami maternal lineages]
Saamelaisista on kerätty viime vuosikymmenten aikana lähes 1000 äitilinjanäytettä. Tästä laajasta aineistosta ei milloinkaan ole muodostettu kokonaiskuvaa, vaan geenitutkimuksissa on yleensä keskitytty vain kulloisenkin tutkimusryhmän itse keräämiin näytteisiin. Tämä tarkastelu on yritys tuottaa kokonaiskuva saamelaisten äitilinjoista. Tarkastelun luuranko muodostuu GenBankin koko mtDNA:n laajuisista näytteistä, joiden lomaan sijoitetaan vanhempien tutkimusten epätarkempia näytteitä. Haploryhmien sukupuissa ovat mukana läheiset osumat myös muista pohjoisen Euroopan ja Siperian väestöistä samoin kuin muinais-DNA-näytteet. Lopuksi käsitellään äitilinjojen mahdollisia leviämisreittejä ja -ajoituksia sekä mahdollista yhteyttä saamelaisen kielen ja sen esimuotojen leviämiseen.

The rapid growth of genetic ancestry testing has brought concerns that these tests will transform consumers' racial and ethnic identities, producing " geneticized " identities determined by genetic knowledge. Drawing on 100 qualitative... more

The rapid growth of genetic ancestry testing has brought concerns that these tests will transform consumers' racial and ethnic identities, producing " geneticized " identities determined by genetic knowledge. Drawing on 100 qualitative interviews with White, Black, Hispanic/Latino, Asian, and Native Americans, we develop the genetic options theory to account for how genetic ancestry tests influence consumers' ethnic and racial identities. It maintains that consumers do not accept the tests' results as given, but choose selectively from the estimates according to two mechanisms: their identity aspirations and social appraisals. Yet consumers' prior racialization also influences their identity aspirations; White respondents aspired to new identities more readily and in substantively different ways. Our findings suggest that genetic ancestry testing can reinforce race privilege among those who already experience it.