N-haplot tulivat Suomeen kahta reittiä ja muita tutkimuksia

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American Society of Human Genetics (ASHG) annual meeting 2023, poster abstracts:
https://www.ashg.org/wp-content/uploads ... tracts.pdf

PB3057 Finnish Y chromosome sequencing data suggests dual paths of haplogroup N1a1 into Finland
A. Preussner, J. Leinonen. J. Riikonen, M. Pirinen. T. Tukiainen

”Y chromosome (chrY) haplogroups differ geographically within Finland, with N1a1-TAT enriched in the northeast and I1-M253 in the southwest, suggested to reflect two separate founding populations. However, to date, the distribution of finer-scale chrY variation beyond these major haplogroups has not been characterized in the population. To better understand the Y-chromosomal landscape in Finland, we studied whole genome sequencing data for the Y chromosome in 1831 Finnish men (born between 1923-1979), with precise geographical origins from the FINRISK project. We assessed the geographical distribution of common chrY haplogroups (freq ≥ 1%) within 19 regions across Finland, determined by paternal birth places (6-392 samples per region), and further examined the relationship between chrY haplogroups and autosomal genetic variation. In addition to detecting the four previously described chrY haplogroups in Finland, N1a1-TAT (69%), I1-M253 (20%), R1a-M420 (5%) and R1b-M343 (4%), we increase the resolution by observing in total 56 common haplogroups in our data, with 27 displaying geographical differences within the country (chisq p<0.05). We show that haplogroup N1a1-TAT, traditionally associated with eastern Finnish ancestry, splits into two unique lineages: N1a1a1a1a2a1-CTS2733 (53%) enriched in the northeast, and N1a1a1a1a1a-VL29 (16%) more frequent in the southwestern coast, specifically in Southwest Finland (64% of N1a1, chisq p=5e-11). Carriers of these two N1a1-TAT lineages displayed differences in their autosomal genome (PC1) in Southwest Finland (wilcoxon p<2e-16) but not elsewhere in Finland, with the VL29 carriers resembling closely southwestern Finns, suggesting its arrival to the southwestern coast may occurred more likely via the Baltic Sea rather than through the mainland. Overall, our results suggest two separate routes of haplogroup N1a1-TAT into Finland, N1a1a1a1a2a1-CTS2733 from the east and N1a1a1a1a1a-VL29 from the southwest. Within other haplogroups, such as I1-M253, we did not observe a similar degree of heterogeneity, although we detected some regional enrichments in its sublineages. In summary, we have characterized detailed chrY variation and its distribution regionally within Finland, providing novel insights into the population history of Finns, particularly within haplogroup N1a1-TAT. Our research further elaborates on the relationship between autosomal genetic structure and chrY haplogroups, providing valuable insights for future studies in population health. Overall, this study highlights the value of reassessing population-level chrY variation with detailed geographical and sequencing data.”

PB3015 An ancient DNA time-transect of the Western Steppe from 1000 BCE to 1000 CE disproves the Khazar hypothesis of Ashkenazi Jewish origins
A. Shaus, I. Shingiray, C. Lalueza-Fox, R. Pinhasi, D. Reich

”[...] We report genome-wide data from 105 Steppe individuals from Moldova, Ukraine, Russia, Georgia and Kazakhstan, 83 of which were radiocarbon dated. We trace the intricate effects of centuries-long patterns of migrations, admixtures and population displacements for populations likely to correspond to the historically described Scythians, Sarmatians, Alans, Khazars, and Bulgars. We detect a major population shift beginning with the second half of the 4th century CE, which can be associated with the consequences of the so-called “Hunnic mayhem”, postulated by some historians. By analyzing multiple genomes from the core area of the Khazar Khaganate, we set to rest the “Khazar hypothesis” of Jewish Ashkenazi origins, which postulates that Khazars, converted to Judaism in the 8th and 9th centuries CE, were a major contributing source to present-day Ashkenazi Jews. Instead, we find that Khazar burials have a typical Western Turkic genetic profile, with no evidence at all for recent shared ancestry with present- day or medieval Jews.”

PB3066 Genetic identification of Slavs in Migration Period Europe using an IBD sharing graph
P. Flegontov, L. Viazov, O. Flegontova, H. Ringbauer, D. Reich

”Popular methods of genetic analysis relying on allele frequencies such as PCA, ADMIXTURE and qpAdm are not suitable for distinguishing many populations that were important historical actors in the Migration Period Europe. For instance, differentiating Slavic, Germanic, and Celtic people is very difficult relying on these methods, but very helpful for archaeologists given a large proportion of graves with no inventory and frequent adoption of a different culture. To overcome these problems and to test if archaeological cultural groups in Early Medieval Central/Eastern Europe correspond to populations isolated to some degree, we applied a method based on autosomal haplotypes. Imputation of missing genotypes, phasing and IBD inference were performed for ancient Eurasians using the ancIBD method (Ringbauer et al. 2023, bioRxiv). IBD links for subsets of these individuals are represented as graphs, visualized with a force-directed layout algorithm, and most clusters of distant relatives that were inferred in these graphs with the Leiden algorithm are in remarkable agreement with archaeological evidence. One of these clusters includes nearly all individuals in the dataset annotated archaeologically as "Slavic". Most individuals in this cluster were not buried in the Slavic cultural context, but all of them come from times and places where Slavic presence is likely according to written sources and/or archaeological evidence. These results illustrate the power of the IBD graph approach since we were able to reveal a community of distantly related individuals from very diverse archaeological contexts who could not be identified using the standard archaeogenetic toolkit. Considering also results of other analyses based on allele frequencies (PCA, ADMIXTURE), a hypothesis for the origin of this population can be proposed: it was formed by admixture of a group related to Baltic speakers with East Germanic people and Sarmatians or Scythians, and underwent a major bottleneck. We suppose that the starting point of these demographic processes in Central and Eastern Europe were migrations of Sarmatian populations, pushed out from Volhynia by Goths in the late 2nd century CE.”

PB3107 Reconstructing the genetic history of Ancestral South Indians and Ancestral Austro-Asiatics
A. Dey, A. Basu, D. Nandi

”South Asia has a complex population history. Using previously published genomic data of present-day and ancient individuals from South Asia and its neighboring regions, we identified an ancestral component that is ubiquitous in the genomes of many present-day South Asian tribal populations, henceforth Tribal South Asian (TSA) ancestry. TSA was also present in South Asian ancient individuals, but almost absent in the ancient individuals from the neighboring regions. Most importantly, it is the only ancestry that is found in all present-day individuals from mainland South Asia. Hence, it is likely to represent one of the oldest ancestries of this region. TSA is highly correlated with Ancestral South Indian (ASI) and Ancestral Austro-Asiatic (AAA) ancestries (r=0.98 and 0.88 respectively), which can only be inferred exclusively from present-day South Asian individuals, and hence they provide better resolution. [...]”

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ISOGG:in tietojen perusteella N-CTS2733 olisi sama kuin N-Z1928.
https://www.yfull.com/tree/N-Z1928/
https://www.theytree.com/tree/N-Z1928

[Jaska]

Oli jo aikakin saada suomalaisten isälinjoista tarkempi käsitys! Vähän hankalasti aukeava virke on jäänyt tuohon:

"Carriers of these two N1a1-TAT lineages displayed differences in their autosomal genome (PC1) in Southwest Finland (wilcoxon p<2e-16) but not elsewhere in Finland, with the VL29 carriers resembling closely southwestern Finns"

N-miehet erosivat autosomaalisesti toisistaan Lounais-Suomessa mutteivät muualla, VL29-miesten muistuttaessa lounaissuomalaisia. Siis tarkoittaako tämä, että Lounais-Suomen muut N-miehet eivät muistuta lounaissuomalaisia vaan ovat vasta äskettäin alueelle soluttautuneita savolaisia?

[merimaa]

Tekstissä ei tosiaan suoraan sanota, keitä CTS2733-miehet Varsinais-Suomessa muistuttivat, jos VL29-miehet muistuttivat siellä läheisesti varsinaissuomalaisia (tai lounaissuomalaisia). Vahva epäilys kuitenkin on, että CTS2733-miehet muistuttivat Varsinais-Suomessa enemmän muiden alueiden väestöjä kuin VL29-miehet.

Luulisi, että korrelaatio haploryhmän ja autosomaalisen perimän välillä ei voi säilyä kuin joitakin satoja vuosia, joten se kertoo varmaan melko myöhäisestä muuttoliikkeestä.