@article{MTMT:34482795, title = {A comprehensive review of HVS-I mitochondrial DNA variation of 19 Iranian populations}, url = {https://m2.mtmt.hu/api/publication/34482795}, author = {Alaamjadi, Motahareh and Hayatmehr, Z. and Egyed, Balázs and Tavallaei, M. and Szécsényi-Nagy, Anna}, doi = {10.1111/ahg.12544}, journal-iso = {ANN HUM GENET}, journal = {ANNALS OF HUMAN GENETICS}, unique-id = {34482795}, issn = {0003-4800}, year = {2024}, eissn = {1469-1809}, orcid-numbers = {Egyed, Balázs/0000-0003-3960-2052; Szécsényi-Nagy, Anna/0000-0003-2095-738X} } @CONFERENCE{MTMT:34580135, title = {Uniparental genetic diversity of three Hungarian-speaking isolated communities in the Carpathian Basin}, url = {https://m2.mtmt.hu/api/publication/34580135}, author = {Borbély, Noémi and Pamjav, Horolma and Egyed, Balázs and Máthé, István and Szécsényi-Nagy, Anna}, booktitle = {Programme and abstract book 12th Haploid Markers 2023}, unique-id = {34580135}, year = {2023}, pages = {78}, orcid-numbers = {Egyed, Balázs/0000-0003-3960-2052; Szécsényi-Nagy, Anna/0000-0003-2095-738X} } @article{MTMT:34226053, title = {N6-Methyladenine Progressively Accumulates in Mitochondrial DNA during Aging}, url = {https://m2.mtmt.hu/api/publication/34226053}, author = {Sturm, Ádám and Sharma, Himani and Bodnár, Ferenc and Aslam, Maryam and Kovács, Tibor and Németh, Ákos and Hotzi, Bernadette and Billes, Viktor András and Kovácsné Sigmond, Tímea Ilona and Tátrai, Kitti and Egyed, Balázs and Téglás-Huszár, Blanka and Schlosser, Gitta (Vácziné) and Charmpilas, Nikolaos and Ploumi, Christina and Perczel, András and Tavernarakis, Nektarios and Vellai, Tibor}, doi = {10.3390/ijms241914858}, journal-iso = {INT J MOL SCI}, journal = {INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES}, volume = {24}, unique-id = {34226053}, issn = {1661-6596}, abstract = {N6-methyladenine (6mA) in the DNA is a conserved epigenetic mark with various cellular, physiological and developmental functions. Although the presence of 6mA was discovered a few years ago in the nuclear genome of distantly related animal taxa and just recently in mammalian mitochondrial DNA (mtDNA), accumulating evidence at present seriously questions the presence of N6-adenine methylation in these genetic systems, attributing it to methodological errors. In this paper, we present a reliable, PCR-based method to determine accurately the relative 6mA levels in the mtDNA of Caenorhabditis elegans, Drosophila melanogaster and dogs, and show that these levels gradually increase with age. Furthermore, daf-2(−)-mutant worms, which are defective for insulin/IGF-1 (insulin-like growth factor) signaling and live twice as long as the wild type, display a half rate at which 6mA progressively accumulates in the mtDNA as compared to normal values. Together, these results suggest a fundamental role for mtDNA N6-adenine methylation in aging and reveal an efficient diagnostic technique to determine age using DNA.}, year = {2023}, eissn = {1422-0067}, orcid-numbers = {Sturm, Ádám/0000-0002-9515-8761; Sharma, Himani/0000-0001-6947-9281; Kovács, Tibor/0000-0002-0632-9128; Hotzi, Bernadette/0000-0003-1433-6843; Billes, Viktor András/0000-0003-0030-6221; Kovácsné Sigmond, Tímea Ilona/0000-0002-1985-428X; Egyed, Balázs/0000-0003-3960-2052; Schlosser, Gitta (Vácziné)/0000-0002-7637-7133; Ploumi, Christina/0000-0002-2389-5471; Perczel, András/0000-0003-1252-6416; Tavernarakis, Nektarios/0000-0002-5253-1466; Vellai, Tibor/0000-0002-3520-2572} } @article{MTMT:34021376, title = {Forensic Implications of the Discrepancies Caused between NGS and CE Results by New Microvariant Allele at Penta E Microsatellite}, url = {https://m2.mtmt.hu/api/publication/34021376}, author = {Kocsis, Balázs and Mátrai, Norbert and Egyed, Balázs}, doi = {10.3390/genes14051109}, journal-iso = {GENES-BASEL}, journal = {GENES}, volume = {14}, unique-id = {34021376}, issn = {2073-4425}, abstract = {Examination of STR markers using the MPS technology is becoming more common in forensic genetics, but scientists still have insufficient experience in dealing with ambiguous results. However, it is always essential to resolve discordant data if we want to use the technology as an accredited method in routine forensic casework. During the internal laboratory validation of the Precision ID GlobalFiler NGS STR Panel v2 kit, we observed two discrepant genotypes at Penta E locus compared to the previous capillary electrophoresis results. Each NGS software that we applied (i.e., Converge, STRaitRazor and IGV) returned the same 12,14 and 12,16 genotypes in the two samples, respectively, instead of the 11.3,14 and 11.3,16 genotypes previously observed with CE (Capillary electrophoresis) typing. In the case of the length variant 11.3 alleles, traditional Sanger sequencing confirmed a complete twelve repeat unit structure in both samples. However, after sequencing was extended to the flanking regions of the variant alleles, sequence data revealed a two-bases GG deletion downstream of the last TCTTT repeat motif in the forward strand. The determined allele variant has not been previously reported in the scientific literature and highlights the need for a careful evaluation and thorough concordance studies before using NGS STR data in forensic cases.}, year = {2023}, eissn = {2073-4425}, orcid-numbers = {Mátrai, Norbert/0000-0003-0962-6205; Egyed, Balázs/0000-0003-3960-2052} } @article{MTMT:33549439, title = {Interdisciplinary analyses of Bronze Age communities from Western Hungary reveal complex population histories}, url = {https://m2.mtmt.hu/api/publication/33549439}, author = {Gerber, Dániel and Szeifert, Bea and Székely, Orsolya and Egyed, Balázs and Gyuris, Balázs and Giblin, Julia I. and Horváth, Anikó and Köhler, Kitti and Kulcsár, Gabriella and Kustár, Ágnes and Major, István and Molnár, Mihály and Palcsu, László and Szeverényi, Vajk and Fábián, Szilvia and Mende, Balázs Gusztáv and Bondár, Mária (Ködmönné) and Ari, Eszter and Kiss, Viktória and Szécsényi-Nagy, Anna}, doi = {10.1093/molbev/msad182}, journal-iso = {MOL BIOL EVOL}, journal = {MOLECULAR BIOLOGY AND EVOLUTION}, volume = {182}, unique-id = {33549439}, issn = {0737-4038}, abstract = {In this study we report 21 ancient shotgun genomes from present-day Western Hungary, from previously understudied Late Copper Age Baden, and Bronze Age Somogyvár-Vinkovci, Kisapostag, and Encrusted Pottery archaeological cultures (3530–1620 cal BCE). Our results indicate the presence of high steppe ancestry in the Somogyvár-Vinkovci culture. They were then replaced by the Kisapostag group, who exhibit an outstandingly high (up to ∼47%) Mesolithic hunter-gatherer ancestry, despite this component being thought to be highly diluted by the time of the Early Bronze Age. The Kisapostag population contributed the genetic basis for the succeeding community of the Encrusted pottery culture. We also found an elevated hunter-gatherer component in a local Baden culture associated individual, but no connections were proven to the Bronze Age individuals. The hunter-gatherer ancestry in Kisapostag is likely derived from two main sources, one from a Funnelbeaker or Globular Amphora culture related population and one from a previously unrecognised source in Eastern Europe. We show that this ancestry not only appeared in various groups in Bronze Age Central Europe, but also made contributions to Baltic populations. The social structure of Kisapostag and Encrusted pottery cultures is patrilocal, similarly to most contemporaneous groups. Furthermore, we developed new methods and method standards for computational analyses of ancient DNA, implemented to our newly developed and freely available bioinformatic package. By analysing clinical traits, we found carriers of aneuploidy and inheritable genetic diseases. Finally, based on genetic and anthropological data, we present here the first female facial reconstruction from the Bronze Age Carpathian Basin.}, year = {2023}, eissn = {1537-1719}, orcid-numbers = {Egyed, Balázs/0000-0003-3960-2052; Major, István/0000-0003-4675-9875; Bondár, Mária (Ködmönné)/0000-0002-6526-0570; Ari, Eszter/0000-0001-7774-1067; Szécsényi-Nagy, Anna/0000-0003-2095-738X} } @article{MTMT:33549331, title = {High Coverage Mitogenomes and Y-Chromosomal Typing Reveal Ancient Lineages in the Modern-Day Székely Population in Romania}, url = {https://m2.mtmt.hu/api/publication/33549331}, author = {Borbély, Noémi and Székely, Orsolya and Szeifert, Bea and Gerber, Dániel and Máthé, István and Benkő, Elek and Mende, Balázs Gusztáv and Egyed, Balázs and Pamjav, Horolma and Szécsényi-Nagy, Anna}, doi = {10.3390/genes14010133}, journal-iso = {GENES-BASEL}, journal = {GENES}, volume = {14}, unique-id = {33549331}, issn = {2073-4425}, 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.}, year = {2023}, eissn = {2073-4425}, orcid-numbers = {Borbély, Noémi/0000-0002-1488-5298; Egyed, Balázs/0000-0003-3960-2052; Szécsényi-Nagy, Anna/0000-0003-2095-738X} } @misc{MTMT:33227423, title = {Investigating the archaic and modern-day Székely gene pool around Székelyudvarhely}, url = {https://m2.mtmt.hu/api/publication/33227423}, author = {Borbély, Noémi and Szeifert, Bea and Kerestély, Koppány and Pamjav, Horolma and Nyárádi, Zsolt and Egyed, Balázs and Sófalvi, András and Gál, Szilárd Sándor and Benkő, Elek and Szécsényi-Nagy, Anna}, unique-id = {33227423}, abstract = {We examine DNA from archaic and modern-day Székely samples from the region of Székelyudvarhely to expand our knowledge about Hungarian population genetics relationships and complete the genetic map of the Carpathian Basin with high quality uniparental (whole mitogenome and 17-23 Y-STR data) and full-genome data. The modern sample set we analyzed includes more than a hundred Hungarian-speaking Székely individuals from isolated villages near the town Székelyudvarhely. The donors’ maternal and paternal ancestry was thoroughly documented in order to exclude the effect of population migration in the last 100-150 years and to avoid sampling of close relatives. The archaic sample set contains nearly a hundred medieval (12- 15/16. century) individuals from the region of Székelyudvarhely (Székelyudvarhely, Székelykeresztúr, Fenyéd, Kányád, Nagygalambfalva, Patakfalva, Máréfalva, Bögöz) mostly from church-related burials. We analyzed maternal lineages with whole mtDNA next-generation sequencing, and the results were compared to published modern and ancient mitogenomic datasets. The majority of the modern and archaic Székely population can be assigned to European mtDNA haplogroups, but the presence of Asian haplotypes is not negligible either. Phylogenetic analyses confirmed the presumed eastern origin of certain lineages and in some cases, they can be linked to ancient DNA data of early Hungarians. In the modern data set, we found mostly European-related Y-haplogroups and the smaller proportion of the samples belonged to haplogroups with Asian-origin. These are the few Y-haplotypes that may reflect a Central Asian connection. Further observations are aimed to achieve from comparative analyses of the paternal lineages and the thorough analysis of whole-genome data. Through these studies, we can monitor the continuity and relationships of the region’s populations. This study was funded by the NKFIH FK-127938 research grant.}, year = {2022}, pages = {488-489}, orcid-numbers = {Egyed, Balázs/0000-0003-3960-2052; Szécsényi-Nagy, Anna/0000-0003-2095-738X} } @article{MTMT:32922771, title = {Tracing genetic connections of ancient Hungarians to the 6th–14th century populations of the Volga-Ural region}, url = {https://m2.mtmt.hu/api/publication/32922771}, author = {Szeifert, Bea and Gerber, Dániel and Csáky, Veronika and Langó, Péter and Stashenkov, Dmitrii A and Khokhlov, Aleksandr A and Sitdikov, Ayrat G and Gazimzyanov, Ilgizar R and Volkova, Elizaveta V and Matveeva, Natalia P and Zelenkov, Alexander S and Poshekhonova, Olga E and Sleptsova, Anastasiia V and Karacharov, Konstantin G and Ilyushina, Viktoria V and Konikov, Boris A and Sungatov, Flarit A and Kolonskikh, Alexander G and Botalov, Sergei G and Grudochko, Ivan V and Komar, Oleksii and Egyed, Balázs and Mende, Balázs Gusztáv and Türk, Attila and Szécsényi-Nagy, Anna}, doi = {10.1093/hmg/ddac106}, journal-iso = {HUM MOL GENET}, journal = {HUMAN MOLECULAR GENETICS}, volume = {31}, unique-id = {32922771}, issn = {0964-6906}, year = {2022}, eissn = {1460-2083}, pages = {3266-3280}, orcid-numbers = {Egyed, Balázs/0000-0003-3960-2052; Szécsényi-Nagy, Anna/0000-0003-2095-738X} } @{MTMT:32672269, title = {Towards building the genetic map of the Carpathian Basin}, url = {https://m2.mtmt.hu/api/publication/32672269}, author = {Borbély, Noémi and Gerber, Dániel and Szeifert, Bea and Pamjav, Horolma and Mende, Balázs Gusztáv and Egyed, Balázs and Szécsényi-Nagy, Anna}, booktitle = {Hungarian Molecular Life Sciences 2021}, unique-id = {32672269}, abstract = {Our research was aimed at mapping the genetic structure and paternal gene pool of the early 20th/ late 19th-century population of the Carpathian Basin, as part of which we performed full mtDNA-based and Y-chromosomal genotyping of samples collected from present-day Hungarian-speaking villages located in Transylvania, Drávaszög in Croatia, and Zobor-region in Slovakia. Our basic assumption was that we reconstruct the uniparental gene pool of the Hungarian speaking populations that existed 100- 150 years ago by finding elderly sample donors living in isolated villages and documenting their genealogies carefully. The aim of the research was to monitor any regional genetic structure discrepancies of the Hungarian speaking population and to confirm preliminary uniparental genetic studies that revealed an increased number of Eastern Eurasian lineages in isolated populations, compared to populations of larger cities. Our partial results from the Sekler population indicate a mainly West-Eurasian uniparental makeup that also points to limited admixture with neighboring populations. European mtDNA haplogroups characterize the majority of the population, but differently from the Hungarian-speaking population in Hungary, as there is a perceptibly higher proportion of Eastern Asian haplotypes. Phylogenetic analyses confirmed the presumed eastern origin of certain maternal lineages and in some particular cases, they can also be linked to ancient DNA data of early Hungarians. So far we have examined 286 newly sequenced whole mitochondrial genomes and Y chromosome STR and SNP profiles of 214 men from the three regions. Our follow-up plan is to generate whole-genome data to receive more detailed inferences on the origin and connection of ancient and modern-day Hungarian-speaking populations.}, year = {2021}, pages = {199-199}, orcid-numbers = {Egyed, Balázs/0000-0003-3960-2052; Szécsényi-Nagy, Anna/0000-0003-2095-738X} } @{MTMT:32502157, title = {Chapters from Carpathian Basin’s Early Medieval genetic history}, url = {https://m2.mtmt.hu/api/publication/32502157}, author = {Szeifert, Bea and Gyuris, Balázs and Gerber, Dániel and Csáky, Veronika and Türk, Attila and Szőke, Béla Miklós and Évinger, Sándor and Egyed, Balázs and Mende, Balázs Gusztáv and Szécsényi-Nagy, Anna}, booktitle = {Hungarian Molecular Life Sciences 2021}, unique-id = {32502157}, year = {2021}, pages = {7-7}, orcid-numbers = {Egyed, Balázs/0000-0003-3960-2052; Szécsényi-Nagy, Anna/0000-0003-2095-738X} }