Genetic history of the Uralic-speaking peoples as seen through the paternal haplogroup N and autosomal variation of northern Eurasians
Date
2019-10-15
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Abstract
Euroopast Lääne-Siberini levinud uurali keelkond postuleeriti enam kui saja aasta eest. Mitme põlvkonna eri teadusvaldkondade teadlaste töö tulemusena on kogutud aukartustäratav andmestik selle keelkonna rahvaste kohta, kuid erilise huvi objektiks on jäänud küsimus nende ühisest päritolust, võimalikust algkodust ja rändeteedest, mille kohta on välja pakutud arvukalt huvitavaid hüpoteese.
Eelkõige geograafiast sõltuvas isalt pojale päranduvate Y-kromosoomi variantide ehk isaliinide jaotusmustris eristub selgelt haplogrupp N, mis seob nii Euroopa kui Aasia põhjaaladel elavaid rahvaid ning iseloomustab ka suurt osa uurali keeli kõnelevatest meestest. Käesoleva doktoritöö eesmärgiks oli esiteks rakendada kaasaegseid DNA järjestustehnoloogiaid hindamaks haplogrupi N fülogeneetilise puu sisestruktuuri ja alamklaadide ekspansiooniaegu ning levikut Põhja-Euraasias. Teiseks testida uusimate statistiliste meetoditega võimaliku geneetilise ühisosa olemasolu uurali keelesugulaste vahel, tuginedes ülegenoomsetele genotüpiseerimisandmetele.
Selgus, et haplogrupp N on tõenäoliselt algselt pärit Põhja-Hiinast või mandrilisest Kagu-Aasiast ning haplogrupi sisemine struktuur koosneb mitmest piiritletud geograafilise levikuga alamklaadist. Ühel neist, haplogrupi N3 alamklaad N3a3’6, mille levikuaja algus jääb umbes 5000 aasta tagusesse aega, on tähelepanuväärselt lai geograafiline levik, mis ulatub Läänemere idakaldalt kuni Mongoolia ja Vene Beringiani ning hõlmab märkimisväärse osa kõikidesse suurematesse Põhja-Euraasia keelkondadesse kuuluvatest meestest.
Ülegenoomsete andmete põhjal on enamusel uurali keeli kõnelejatest piiratud, kuid tuvastatav hiljutine tõenäoliselt Siberi päritolu geneetiline ühisosa, mis vihjab keelte levikuga kaasas käinud inimeste rändele. Samas on see ühine geneetiline komponent seotud ulatuslikumate ida poolt lähtunud mõjutustega Kirde-Euroopa kaasaegsete rahvaste geenifondile, mis tõenäoliselt ei piirdunud ainult uurali keeli rääkinud inimeste sisserändega.
The Uralic linguistic family has been postulated for more than a hundred years with a current distribution area spanning from Europe to West Siberia. The prehistory of Uralic languages and their speakers has been under scrutiny of several generations of scientists from a variety of scientific fields. Numerous hypotheses have been proposed regarding their common origin, dispersal routes and possible homeland, but these questions continue to remain scientifically disputable. A clear disruptor in the pattern of geography-dependent distribution of Y-chromosomal paternal lineages is haplogroup N that unites populations across entire north Eurasia and describes a fair share of Uralic-speaking males in both northeastern Europe and west Siberia. First aim of this thesis was to apply novel DNA re-sequencing approach to resolve the inner phylogenetic structure of haplogroup N and estimate coalescent ages along with geographic distribution of its inner subclades. Second aim was to test for a common autosomal genetic substrate between Uralic speakers using novel statistical methods. The results suggest hg N to initially originate from North China or Mainland Southeast Asia and contain several novel subclades with distinct phylogeographic spread. One such subclade, N3a3’6 within subhaplogroup N3, displays an expansion time of 5000 years, but has a remarkably wide geographic distribution ranging from the eastern shores of the Baltic Sea to Mongolia and Pacific Russian Beringia, encompassing a considerate fraction of men from all major linguistic families in north Eurasia. Whole genome data shows a small, yet significant autosomal genetic component of possible Siberian ancestry shared between most of the Uralic-speaking populations, suggesting a migratory contribution to the dispersal of the languages. This component is part of a broader eastern influence on the genepool of modern northern Europe and was probably not limited to the spread of extant Uralic languages.
The Uralic linguistic family has been postulated for more than a hundred years with a current distribution area spanning from Europe to West Siberia. The prehistory of Uralic languages and their speakers has been under scrutiny of several generations of scientists from a variety of scientific fields. Numerous hypotheses have been proposed regarding their common origin, dispersal routes and possible homeland, but these questions continue to remain scientifically disputable. A clear disruptor in the pattern of geography-dependent distribution of Y-chromosomal paternal lineages is haplogroup N that unites populations across entire north Eurasia and describes a fair share of Uralic-speaking males in both northeastern Europe and west Siberia. First aim of this thesis was to apply novel DNA re-sequencing approach to resolve the inner phylogenetic structure of haplogroup N and estimate coalescent ages along with geographic distribution of its inner subclades. Second aim was to test for a common autosomal genetic substrate between Uralic speakers using novel statistical methods. The results suggest hg N to initially originate from North China or Mainland Southeast Asia and contain several novel subclades with distinct phylogeographic spread. One such subclade, N3a3’6 within subhaplogroup N3, displays an expansion time of 5000 years, but has a remarkably wide geographic distribution ranging from the eastern shores of the Baltic Sea to Mongolia and Pacific Russian Beringia, encompassing a considerate fraction of men from all major linguistic families in north Eurasia. Whole genome data shows a small, yet significant autosomal genetic component of possible Siberian ancestry shared between most of the Uralic-speaking populations, suggesting a migratory contribution to the dispersal of the languages. This component is part of a broader eastern influence on the genepool of modern northern Europe and was probably not limited to the spread of extant Uralic languages.
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Keywords
uurali rahvad, populatsioonigeneetika, fülogeneetilised suhted, fülogeograafia, Y-kromosoom, haplotüüp, ühenukleotiidsed polümorfismid, Põhja-Euraasia