Coalescent simulations of Yakut mtDNA variation suggest small founding population

Zlojutro, Mark; Tarskaia, Larissa A.; Sorensen, Mark; Snodgrass, J. Josh; Leonard, William R.; Crawford, Michael H.

doi:10.1002/ajpa.21003

Cited by 16 publications

(13 citation statements)

References 30 publications

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“…These assumptions are in agreement with archaeological data [54,55], the founder effect dates calculated by Pakendorf et al [6] and with the recent coalescent simulations of Yakut mtDNA variation by Zlojutro et al [56]. The early expansion of the Yakuts was accompanied by intermarriages between Yakut men and Evenk women as evidenced by the migration rates.…”

Section: Discussionsupporting

confidence: 89%

Human evolution in Siberia: from frozen bodies to ancient DNA

et al. 2010

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BackgroundThe Yakuts contrast strikingly with other populations from Siberia due to their cattle- and horse-breeding economy as well as their Turkic language. On the basis of ethnological and linguistic criteria as well as population genetic studies, it has been assumed that they originated from South Siberian populations. However, many questions regarding the origins of this intriguing population still need to be clarified (e.g. the precise origin of paternal lineages and the admixture rate with indigenous populations). This study attempts to better understand the origins of the Yakuts by performing genetic analyses on 58 mummified frozen bodies dated from the 15th to the 19th century, excavated from Yakutia (Eastern Siberia).ResultsHigh quality data were obtained for the autosomal STRs, Y-chromosomal STRs and SNPs and mtDNA due to exceptional sample preservation. A comparison with the same markers on seven museum specimens excavated 3 to 15 years ago showed significant differences in DNA quantity and quality. Direct access to ancient genetic data from these molecular markers combined with the archaeological evidence, demographical studies and comparisons with 166 contemporary individuals from the same location as the frozen bodies helped us to clarify the microevolution of this intriguing population.ConclusionWe were able to trace the origins of the male lineages to a small group of horse-riders from the Cis-Baïkal area. Furthermore, mtDNA data showed that intermarriages between the first settlers with Evenks women led to the establishment of genetic characteristics during the 15th century that are still observed today.

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Section: Discussionsupporting

confidence: 89%

Human evolution in Siberia: from frozen bodies to ancient DNA

et al. 2010

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“…The Yakuts stand out as having higher diversity values than most of the other populations; this is in good accordance with their much larger census population size in comparison to that of the other populations (478,000 Yakuts vs 38,000 Evenks, 21,000 Evens, 1500 Udegey, 1600 Yukaghir, 4600 Nivkh, and 7900 Koryaks in 2010 [40]). They furthermore show an increase in population size approximately 1000 years BP (Figure 7A); this fits with previous estimates based on the Y-chromosome and mtDNA [14,41] and is also in relatively good accordance with archaeological data showing that the ancestors of the Yakuts migrated to the north in the 13 th or 14 th centuries CE [42,43]. The Evenk and Even subgroups generally have lower diversity values than the Yakuts, with the exception of the Sakkyryyr Evens.…”

Section: Discussionsupporting

confidence: 90%

Investigating the Prehistory of Tungusic Peoples of Siberia and the Amur-Ussuri Region with Complete mtDNA Genome Sequences and Y-chromosomal Markers

et al. 2013

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Evenks and Evens, Tungusic-speaking reindeer herders and hunter-gatherers, are spread over a wide area of northern Asia, whereas their linguistic relatives the Udegey, sedentary fishermen and hunter-gatherers, are settled to the south of the lower Amur River. The prehistory and relationships of these Tungusic peoples are as yet poorly investigated, especially with respect to their interactions with neighbouring populations. In this study, we analyse over 500 complete mtDNA genome sequences from nine different Evenk and even subgroups as well as their geographic neighbours from Siberia and their linguistic relatives the Udegey from the Amur-Ussuri region in order to investigate the prehistory of the Tungusic populations. These data are supplemented with analyses of Y-chromosomal haplogroups and STR haplotypes in the Evenks, Evens, and neighbouring Siberian populations. We demonstrate that whereas the North Tungusic Evenks and Evens show evidence of shared ancestry both in the maternal and in the paternal line, this signal has been attenuated by genetic drift and differential gene flow with neighbouring populations, with isolation by distance further shaping the maternal genepool of the Evens. The Udegey, in contrast, appear quite divergent from their linguistic relatives in the maternal line, with a mtDNA haplogroup composition characteristic of populations of the Amur-Ussuri region. Nevertheless, they show affinities with the Evenks, indicating that they might be the result of admixture between local Amur-Ussuri populations and Tungusic populations from the north.

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“…In most such studies, mitochondrial gene genealogies, either reconstructed from data on current variation or generated by computer simulation, were interpreted under the assumption that mutation rates are low or very low. Only in a subset of studies was a range of possible values explored (Destro-Bisol et al, 2004; Guimaraes et al, 2009; Zlojutro et al, 2009). However, in one such case (Destro-Bisol et al, 2004) the maximum mutation rate considered was well below the values estimated in almost all pedigree-based studies.…”

Section: Discussionmentioning

confidence: 99%

High mitochondrial mutation rates estimated from deep‐rooting costa rican pedigrees

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Posthumously

Melendez-Obando³

et al. 2012

American J Phys Anthropol

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Estimates of mutation rates for the noncoding hypervariable Region I (HVR-I) of mitochondrial DNA (mtDNA) vary widely, depending on whether they are inferred from phylogenies (assuming that molecular evolution is clock-like) or directly from pedigrees. All pedigree-based studies so far were conducted on populations of European origin. In this paper we analyzed 19 deep-rooting pedigrees in a population of mixed origin in Costa Rica. We calculated two estimates of the HVR-I mutation rate, one considering all apparent mutations, and one disregarding changes at sites known to be mutational hot spots and eliminating genealogy branches which might be suspected to include errors, or unrecognized adoptions along the female lines. At the end of this procedure, we still observed a mutation rate equal to 1.24 × 10−6, per site per year, i.e., at least three-fold as high as estimates derived from phylogenies. Our results confirm that mutation rates observed in pedigrees are much higher than estimated assuming a neutral model of long-term HVRI evolution. We argue that, until the cause of these discrepancies will be fully understood, both lower estimates (i.e., those derived from phylogenetic comparisons) and higher, direct estimates such as those obtained in this study, should be considered when modeling evolutionary and demographic processes.

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Coalescent simulations of Yakut mtDNA variation suggest small founding population

Cited by 16 publications

References 30 publications

Human evolution in Siberia: from frozen bodies to ancient DNA

Human evolution in Siberia: from frozen bodies to ancient DNA

Investigating the Prehistory of Tungusic Peoples of Siberia and the Amur-Ussuri Region with Complete mtDNA Genome Sequences and Y-chromosomal Markers

High mitochondrial mutation rates estimated from deep‐rooting costa rican pedigrees

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