Croatian genetic heritage: an updated Y-chromosome story

Abstract

AimTo analyze an additional set of ˝Y-chromosome genetic markers to acquire a more detailed insight into the diversity of the Croatian population.Methods A total of 518 Yfiler Plus profiles were genotyped. Allele frequencies, haplotype frequencies, and haplotype diversity were calculated by using the STRAF software v. 2.0.4. Genetic distances were quantified by Rst with AMO-VA online tool from the YHRD. The evolutionary history was inferred with the neighbor-joining method of phylogenetic tree construction in the MEGAX software. Whit Athey's Haplogroup Predictor v. 5 was used for additional comparison with regional and other European populations.Results A total of 507 haplotypes were used for genetic STR analysis. An interpopulation study on 17 Y-STR markers showed the lowest genetic diversity between the Croatian and Bosnian-Herzegovinian populations and the highest between the Croatian and Irish populations. Additional interpopulation comparison with the original 27 Y-STR markers (for the population with available data) was also performed. A total of 518 haplotypes were used in the determination of haplogroup diversity. Haplogroup I with its sublineage I2a expressed the highest prevalence. The second most prevalent haplogroup was R, with its major sublineage R1a, except for the subpopulation of Hvar, where E1b1b was the second most prevalent haplogroup. Rare haplogroups also confirmed in this study were L, T, and Q. G1 was detected for the first time in the Croatian population. ConclusionWe obtained a new insight into the differences between examined subpopulations of Croatia and their possible (dis)similarities with neighboring and distant populations.

Ancient DNA reveals the origins of the Albanians

“…7; Tables S16-S17). This ancestry contribution is two to three times higher than the frequency of South-Slavic-associated Y-chromosome haplogroups (R1a-M417, I2a-M423) (67,68) in the modern Albanian population (15% combined; Fig. S8), suggesting that Slavic-related admixture may have been largely female-mediated, as has been shown in 10 th century Serbia (3).…”

“…We argue that based on insights from the PCA and their uniparental markers, these outlying individuals likely date to post-Medieval times. Individuals I18721 and I18719 are assigned to haplogroup I2-M423>I-Y3120 (Table S23), which is associated with the Slavic expansion toward southern Europe during the Migration Period, and has experienced major founder effects in the South Slavic population of the Balkans (48,68,82). This haplogroup is extremely unlikely to have entered the Western Balkans in the Bronze Age, as our extensive haplogroup dataset shows that subclades downstream of I2-M423 appear in the region primarily during the Migration Period (Fig.…”

Y Chromosome Story—Ancient Genetic Data as a Supplementary Tool for the Analysis of Modern Croatian Genetic Pool

“…A considerable number of population-genetic studies have, in the last few decades, provided a large amount of Croatian and other SEE population data based on Y-chromosome markers. The data reflect the turbulent and complex demographic history of this region, influenced by gene flow from various parts of Eurasia and a long history of intermixing [ 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 ]. Studies have confirmed a high level of Y-haplogroup and -haplotype diversity in SEE, with three NRY haplogroups accounting for the majority of paternal genetic variation—namely the I2a, R1a, and E1b clades [ 38 , 39 ].…”

Genetic Diversity Based on the Analysis of 27 Y- Short Tandem Repetition (STR) Loci in Two Populations in the Apuseni Mountains, Romania

“…Among these, short tandem repetitions (STRs) are relevant in genetic studies of populations. They have an average frequency of mutation of about 0.2% per generation [ 1 ].…”

“…The Y-STR haplotype represents the set of alleles on the same chromosome. At the same time, major haplogroups (branches of the Y chromosome phylogeny) reflect the establishment and expansion of major population groups and can provide information about the time scale and route of major migration events [ 1 ].…”