HVS-I polymorphism screening of ancient human mitochondrial DNA provides evidence for N9a discontinuity and East Asian haplogroups in the Neolithic Hungary

Abstract

Analysis of mitochondrial mutations in the HVS-I region is an effective method for ancient human populational studies. Discontinuous haplotype data between the first farmers and contemporary Europeans has been described before. Our contribution is based on a survey initiated on the Neolithic skeletons from Hungarian archaeological sites in the Alfö ld. This Lowland, the Hungarian Plain, is well excavated as an important region for spread of Neolithic culture from Near East and Balkans toward Central and Western Europe, started circa 8000 years ago. HVS-I sequences from nt15977 to nt16430 of 11 such specimens with sufficient mitochondrial DNA preservation among an extended Neolithic collection were analysed for polymorphisms, identifying 23 different ones. After assigning all single-nucleotide polymorphisms, a novel, N9a, N1a, C5, D1/G1a, M/R24 haplogroups were determined. On mitochondrial control mutations at nt16257 and nt16261, polymorphic PCRs were carried out to assess their distribution in remains. Neolithic data set was compared with contemporary Vá c samples and references, resulting in higher frequency of N9a in Alfö ld as a remarkable genetic discontinuity. Our investigation is the first to study mutations form Neolithic of Hungary, resulting in an outcome of Far Eastern haplogroups in the Carpathian Basin. It is worth further investigation as a non-descendant theory, instead of a continuous population history, supporting genetic gaps between ancient and recent human populations.

Ancient DNA: A Window to the Past of Europe

“…A precise analysis of the human remains' dating must automatically accompany genetic analysis to verify group homogeneity at the site level. A recent study has proposed palaeogenetic data from human remains belonging to the Starčevo-Körös-Criş cultures [67] . Anthropologists and archaeologists specialising in this region later noted serious errors in the dating of the skeletons investigated, which significantly influenced the interpretation of the genetic data [68] .…”

Mitochondrial haplogroup C in ancient mitochondrial DNA from Ukraine extends the presence of East Eurasian genetic lineages in Neolithic Central and Eastern Europe

“…22 Modern Siberian populations as well as Neolithic populations of the Northern Baikal region and Northeastern Siberia have been found to harbor polymorphisms found in the C-bearing DD specimens. [23][24][25] A C5-bearing specimen has been recently found in Neolithic Hungarian remains, 20 extending the presence of the C clade in Neolithic Europe from the northern coast of the Black Sea to the Carpathians.…”

“…10 While the majority of mtDNA lineages found in the Neolithic remains from the NPR can be ascribed to the haplogroups of West Eurasian origin and are in agreement with those previously reported for prehistoric haplogroups in West Eurasia, [11][12][13][14][15][16][17][18] our finding of East Eurasian lineages is uncommon in ancient European remains and has only been observed in the neighboring populations of the Carpathian Mountains. 19,20 Haplogroup C is a derivative of the M8 subclade of the Asianspecific M clade. The frequency of M-derived lineages in the modern mtDNA pool of Eastern Europe is marginal, with the exception of an isolated population of Carpathian highlanders.…”

18 Europe and western Asia: genetics and population history

“…Interestingly, these Neolithic farmers also carried lineages that are present in modern Central and East Asia (Guba et al 2011). Another ancient DNA study of skeletons of the Pitted Ware culture of southern Scandinavia, late hunter-gatherer people who lived alongside farmers, found a lack of support for population continuity into modern Scandinavians (Malmstrom et al 2009).…”