High Coverage Mitogenomes and Y-Chromosomal Typing Reveal Ancient Lineages in the Modern-Day Székely Population in Romania

Abstract

Here we present 115 whole mitogenomes and 92 Y-chromosomal Short Tandem Repeat (STR) and Single Nucleotide Polymorphism (SNP) profiles from a Hungarian ethnic group, the Székelys (in Romanian: Secuii, in German: Sekler), living in southeast Transylvania (Romania). The Székelys can be traced back to the 12th century in the region, and numerous scientific theories exist as to their origin. We carefully selected sample providers that had local ancestors inhabiting small villages in the area of Odorheiu Secuiesc/Székelyudvarhely in Romania. The results of our research and the reported data signify a qualitative leap compared to previous studies since it presents the first complete mitochondrial DNA sequences and Y-chromosomal profiles of 23 STRs from the region. We evaluated the results with population genetic and phylogenetic methods in the context of the modern and ancient populations that are either geographically or historically related to the Székelys. Our results demonstrate a predominantly local uniparental make-up of the population that also indicates limited admixture with neighboring populations. Phylogenetic analyses confirmed the presumed eastern origin of certain maternal (A, C, D) and paternal (Q, R1a) lineages, and, in some cases, they could also be linked to ancient DNA data from the Migration Period (5th–9th centuries AD) and Hungarian Conquest Period (10th century AD) populations.

Phylogenetic study of the Hungarian-speaking Baranja (Croatia) and Zobor region (Slovakia) populations

“…The genomic results largely correspond with earlier uniparental marker studies (Maróti et al 2022;. Some mtDNA data have also been published from the Hungarian conquerors or contemporary Hungarian speakers (Borbély et al 2023;Tömöry et al 2007;Neparáczki, Juhász, et al 2017;Brandstätter et al 2007; Maár et al 2021). These mtDNA studies of early and present-day Hungarians revealed a diverse composition of maternal haplogroups with ca 25-30% Easter-Eursian components in the ancient datasets, with marking dilution up to present day (Neparáczki, Juhász, et al 2017;Brandstätter et al 2007möry et al 2007Bogácsi-Szabó et al 2005).…”

“…Mitogenome sequences from Hungarian populations from Hungary, Székely (Hungarian) people from Transylvania near Odorheiu Secuiesc, Romania(Borbély et al 2023) the here presented two populations from Baranja and Zobor region were tested in Arlequin for population differentiation and showed F ST values below 0.0035 with signi cant p-values.…”

“…These data represent the in uence of eastern migration into Central Europe, and today the most strongly detectable in the Hungarian speaking Székely population in Romania. The relatively high proportion of Asian mtDNA haplogroups A, B, C, G, and Y, totaling 7.9% altogether, may indicate that Asian nomads (like Avars) or Hungarian conquerors ooded into the Székely population in medieval Transylvania, although regional patterns emerged throughout the Transylvanian analyses (Brandstätter et al 2007;Borbély et al 2023). In addition to addressing the in uence of foreign immigrants, it's crucial to highlight the signi cant role played by the local populace in shaping the medieval Hungarian nation, as noted by Maár et al, 2021(Maár et al 2021.…”

Entwined Origins: Paternal and Maternal Genetic Legacies of Hungarian-Speaking Enclaves in the Carpathian Basin

“…Genetic data focusing on uniparental markers -speci cally Y-STR (short tandem repeat) and Y-SNP (single nucleotide polymorphism) -from modern Hungarian-speaking populations are available in the literature [21][22][23][24][25][26][27] . This includes data from groups residing in geographically secluded regions within the Carpathian Basin, like Bodrogköz 25 , as well as the Rétköz and Váh valley communities 26 .…”

“…The genomic results largely correspond with earlier uniparental marker studies 15,31 . Some mtDNA data have also been published from the Hungarian conquerors and contemporary Hungarian speakers 7,12,27,35,36 . These mtDNA studies of early and present-day Hungarians revealed a diverse composition of maternal haplogroups with ca 25-30% Easter-Eurasian components in the ancient datasets, with marking dilution up to present day 12,[35][36][37] .…”