A glance of genetic relations in the Balkan populations utilizing network analysis based on in silico assigned Y-DNA haplogroups

Authors

  • Emir Šehović International Burch University, Department of Genetics and Bioengineering, Sarajevo, Bosnia and Herzegovina
  • Martin Zieger Institute of Forensic Medicine, Forensic Molecular Biology Dpt., University of Bern, Sulgenauweg 40, 3007 Bern, Switzerland
  • Lemana Spahić International Burch University, Department of Genetics and Bioengineering, Sarajevo, Bosnia and Herzegovina
  • Damir Marjanović International Burch University, Department of Genetics and Bioengineering, Sarajevo, Bosnia and Herzegovina; Institute for Anthropological Research, Zagreb, Croatia
  • Serkan Dogan International Burch University, Department of Genetics and Bioengineering, Sarajevo, Bosnia and Herzegovina

DOI:

https://doi.org/10.2478/anre-2018-0021

Keywords:

Balkan populations, Y-STR haplotype analysis, Haplogroup prediction, Median-joining tree, Y chromosomal haplogroups

Abstract

The aim of this study is to provide an insight into Balkan populations’ genetic relations utilizing in silico analysis of Y-STR haplotypes and performing haplogroup predictions together with network analysis of the same haplotypes for visualization of the relations between chosen haplotypes and Balkan populations in general. The population dataset used in this study was obtained using 23, 17, 12, 9 and 7 Y-STR loci for 13 populations. The 13 populations include: Bosnia and Herzegovina (B&H), Croatia, Macedonia, Slovenia, Greece, Romany (Hungary), Hungary, Serbia, Montenegro, Albania, Kosovo, Romania and Bulgaria. The overall dataset contains a total of 2179 samples with 1878 different haplotypes.

I2a was detected as the major haplogroup in four out of thirteen analysed Balkan populations. The four populations (B&H, Croatia, Montenegro and Serbia) which had I2a as the most prevalent haplogroup were all from the former Yugoslavian republic. The remaining two major populations from former Yugoslavia, Macedonia and Slovenia, had E1b1b and R1a haplogroups as the most prevalent, respectively.

The populations with E1b1b haplogroup as the most prevalent one are Macedonian, Romanian, as well as Albanian populations from Kosovo and Albania. The I2a haplogroup cluster is more compact when compared to E1b1b and R1b haplogroup clusters, indicating a larger degree of homogeneity within the haplotypes that belong to the I2a haplogroup. Our study demonstrates that a combination of haplogroup prediction and network analysis represents an effective approach to utilize publicly available Y-STR datasets for population genetics.

Downloads

Download data is not yet available.

References

Athey TW. 2006. Haplogroup prediction from Y-STR values using a Bayesian-allele-frequency approach. J Genet Geneal 2:34-39.
View in Google Scholar

Babicki S, Arndt D, Marcu A, Liang Y, Grant JR, Maciejewski A, Wishart DS. 2016. Heatmapper: web-enabled heat mapping for all. Nucleic Acids Res. (epub ahead of print). doi:10.1093/nar/gkw419
View in Google Scholar

Ballantyne K. N, Goedbloed M, Fang R, Schaap O, Lao O, Wollstein A, et al. 2010. Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. The American Journal of Human Genetics 87(3): 341-353.
View in Google Scholar

Ballantyne KN, Ralf A, Aboukhalid R, Achakzai NM, Anjos MJ, Ayub Q, et al.2014. Toward Male Individualization with Rapidly Mutating Y -Chromosomal Short Tandem Repeats. Human mutation 35(8):1021- 1032.
View in Google Scholar

Bandelt HJ, Forster P, Röhl A. 1999. Median-joining networks for inferring intraspecific phylogenies. Molecular biology and evolution 16(1):37-48.
View in Google Scholar

Barbarii LE, Burkhard R, Dan Dermengiu D. Y-chromosomal STR haplotypes in a Romanian population sample. 2003. International journal of legal medicine 117(5):312- 315.
View in Google Scholar

Bar-Yosef Ofer, 2002. The Upper Palaeolithic Revolution. Annual Reviews Anthropology 31:1, 363-393
View in Google Scholar

Battaglia V, Fornarino S, Al-Zahery N, Oli vieri A, Pala M, Myres NM, et al. 2009. Y-chromosomal evidence of the cultural diffusion of agriculture in Southeast Europe. European Journal of Human Genetics 17(6):820-830.
View in Google Scholar

Belledi M, Poloni ES, Casalotti R, Conterio F, Mikerezi I, Tagliavini J, et al. 2000.Maternal and paternal lineages in Albania and the genetic structure of Indo-European populations. European journal of human genetics: EJHG 8(7):480.
View in Google Scholar

Bouckaert R, Lemey P, Dunn M, Greenhill SJ, Alekseyenko AV, Drummond AJ, et al. 2012. Mapping the origins and expansion of the Indo-European language family. Science 337(6097):957-960.
View in Google Scholar

Cullen J, 2008. World Haplogroup and Haplo-I Subclade Predictor. www.members.bex.net/jtcullen515/haplotest.htm Accessed 27 May 2016.
View in Google Scholar

Ćetković, Gentula M, Nevski A. 2015.Y-DNA haplogroup predictor – NevGen. www.nevgen.org/ Accessed 27 May 2016.
View in Google Scholar

Davidović S, Malyarchuk B, Aleksic J. M, Derenko M, Topalovic V, et al. 2015. Mitochondrial DNA perspective of Serbian genetic diversity. American journal of physical anthropology 156(3), 449-465.
View in Google Scholar

Doğan S, Ašić A, Doğan G, Besic L, Marjanović D. 2016. Y-Chromosome Haplogroups in the Bosnian-Herzegovinian Population Based on 23 Y-STR Loci. Human biology 88(3):201-9.
View in Google Scholar

Doğan S, Babic N, Gurkan C, Goksu A, Marjanović D, Hadziavdic V. 2016. Y-chromosomal haplogroup distribution in the Tuzla Canton of Bosnia and Herzegovina: A concordance study using four different in silico assignment algorithms based on Y-STR data. HOMO-Journal of Comparative Human Biology 1;67(6):471-83.
View in Google Scholar

Doğan S, Gurkan C, Dogan M, Balkaya HE, Tunc R, Demirdov DK, Ameen NA, Marjanović D. 2017. A glimpse at the intricate mosaic of ethnicities from Mesopotamia: Paternal lineages of the Northern Iraqi Arabs, Kurds, Syriacs, Turkmens and Yazidis. PloS one 3;12(11):e0187408.
View in Google Scholar

Emmerova B, Ehlera E, Comasd D, Votrubovaa J, Vanek D. 2017. Comparison of Y-chromosomal haplogroup predictors. Forensic Science International 6:145-147.
View in Google Scholar

Ferri G, Tofanelli S, Alu M, Taglioli L, Radheshi E, Corradini B, et al. 2010. Y-STR variation in Albanian populations: implications on the match probabilities and the genetic legacy of the minority claiming an Egyptian descent. International journal of legal medicine 124(5):363-370.
View in Google Scholar

Grugni V, Battaglia V, Kashani BH, Parolo S, Al-Zahery N, Achilli et al. 2012. Ancient migratory events in the Middle East: new clues from the Y-chromosome variation of modern Iranians. PloS one 7(7): e41252.
View in Google Scholar

Gurkan C, Sevay H, Demirdov DK, Hossoz S, Ceker D, Teralı K, Erol AS. 2017. Turkish Cypriot paternal lineages bear an autochthonous character and closest resemblance to those from neighbouring Near Eastern populations. Annals of human biology 17;44(2):164-74.
View in Google Scholar

Gusmao L, Sanchez-Diz P, Calafell F, Martin P, Alonso CA, Alvarez-Fernandez F, et al. 2005. Mutation rates at Y chromosome specific microsatellites. Human Mutation 26(6):520-528.
View in Google Scholar

Hammer, Ø, Harper D.A.T, Ryan P.D. 2001. PAST: Paleontological statistics software package for education and data analysis. Palaeontologia Electronica 4(1):9.
View in Google Scholar

Heraclides A, Bashiardes E, Fernández-Domínguez E, Bertoncini S, Chimonas M, Christofi V, King J, Budowle B, Manoli P, Cariolou MA. 2017. Y-chromosomal analysis of Greek Cypriots reveals a primarily common pre-Ottoman paternal ancestry with Turkish Cypriots. PloS one 16;12(6):e0179474.
View in Google Scholar

Kayser M, Lao O, Anslinger K, Augustin C, Bargel G. Edelmann J, et al. 2005. Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis. Human Genetics 117(5): 428-443.
View in Google Scholar

Kushniarevich A, Utevska O, Chuhryaeva M, Agdzhoyan A, Dibirova K, Uktveryte I, et al. 2015. Genetic heritage of the Balto-Slavic speaking populations: a synthesis of autosomal, mitochondrial and Y-chromo somal data. PLoS One 10(9):e0135820.
View in Google Scholar

Lemmen C, Gronenborn, D, & Wirtz, K. W. 2011. A simulation of the Neolithic transition in Western Eurasia. Journal of Archaeological Science 38(12), 3459-3470.
View in Google Scholar

Marjanović D, Fornarino S, Montagna S, Primorac D, Hadziselimovic R, Vidovic S, et al. 2005. The peopling of modern Bosnia -Herzegovina: Y -chromosome haplogroups in the three main ethnic groups. Annals of Human Genetics 69(6): 757-763.
View in Google Scholar

Mirabal S, Varljen T, Gayden T, Regueiro M, Vujović S, Popović D, et al. 2010. Human Y -chromosome short tandem repeats: A tale of acculturation and migrations as mechanisms for the diffusion of agriculture in the Balkan Peninsula. American journal of physical anthropology 142(3):380-390.
View in Google Scholar

Özdoğan M. 2011. Archaeological evidence on the westward expansion of farming communities from eastern Anatolia to the Aegean and the Balkans. Current Anthropology 52(S4), S415-S430.
View in Google Scholar

Pala M, Olivieri A, Achilli A, Accetturo M, Metspalu E, et al. 2012. Mitochondrial DNA signals of late glacial recolonization of Europe from near eastern refugia. The American journal of human genetics 90(5), 915-924.
View in Google Scholar

Peričić M, Barać Lauc L, Martinović Klarić I, Janićijević B, Behluli I, Rudan P. 2004. Y chromosome haplotypes in Albanian population from Kosovo. Forensic science international 146(1):61-64.
View in Google Scholar

Peričić M, Barać Lauc L, Martinović Klarić I, Rootsi S, Janićević B, et al. 2005. High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations. Molecular Biology and Evolution 22(10):1964-1975
View in Google Scholar

Petrejčíková E, Čarnogurská J, Hronská D, Bernasovská J, Boroňová I, Gabriková D, et al. 2014. Y-SNP analysis versus Y-haplogroup predictor in the Slovak population. Anthropologischer Anzeiger 71(3):275-285.
View in Google Scholar

Posada D, Crandall KA. 2001. Intraspecific gene genealogies: trees grafting into networks. Trends in ecology & evolution 16(1):37-45.
View in Google Scholar

Primorac D, Marjanović D, Rudan P, Villems R, Underhill P. A. 2011. Croatian genetic heritage: Y-chromosome story. Croatian medical journal 52(3): 225-234.
View in Google Scholar

Purps J, Siegert S, Willuweit S, Nagy M, Alves C, Salazar R, et al. 2014. A global analysis of Y-chromosomal haplotype diversity for 23 STR loci. Forensic Science International. Genetics 12: 12-23.
View in Google Scholar

Regueiro M, Rivera L, Damnjanovic T, Lukovic L, Milasin J, Herrera RJ. 2012. High levels of Paleolithic Y-chromosome lineages characterize Serbia. Gene 498(1):59-67.
View in Google Scholar

Roostalu U, Kutuev I, Loogväli E. L, Metspalu E, Tambets K, et al. 2006. Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective. Molecular biology and evolution 24(2), 436-448.
View in Google Scholar

Rootsi S, Kivisild T, Benuzzi G, Help H, Bermisheva M, Kutuev I, et al. 2004. Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe. The American Journal of Human Genetics 75(1):128-137
View in Google Scholar

Semino O, Passarino G, Oefner P J., Lin Alice A., Arbuzova S, et al. 2000. The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective. Science 290 (5494):1155-1159.
View in Google Scholar

Semino O, Passarino G, Brega A, Fellous M, Santachiara-Benerecetti AS. 1996. A view of the neolithicdemic diffusion in Europe through two Y chromosome-specific markers. American journal of human genetics 59(4):964.
View in Google Scholar

Shi H, Dong YL, Wen B, Xiao CJ, Underhill PA, Shen PD, et al. 2005.Y-chromosome evidence of southern origin of the East Asian–specific haplogroup O3-M122. The American Journal of Human Genetics 77(3):408-419.
View in Google Scholar

Slatkin M. 1995. A measure of population subdivision based on microsatellite allele frequencies. Genetics 139(1), 457-462.
View in Google Scholar

Stevanović M, Dobricić V, Keckarević D, Perović A, Savić-Pavićević D, Keckarević-Marković M, et al. Human Y-specific STR haplotypes in population of Serbia and Montenegro. 2007. Forensic science international 171(2):216-221.
View in Google Scholar

Šarac J, Auguštin D. H, Metspalu E, Novokmet N, Missoni S, Rudan P. 2018. Maternal Genetic Profile of Serbian And Montenegrin Populations from Southeastern Europe. Genetics & Applications 1(2), 14-22.
View in Google Scholar

Šarac J, Šarić T, Auguštin D. H, Novokmet N, Vekarić N, Mustać M, et al. 2016. Genetic heritage of Croatians in the Southeastern European gene pool—Y chromosome analysis of the Croatian continental and Island population. American Journal of Human Biology 28(6): 837-845.
View in Google Scholar

Urasin V. 2013.Y Predictor by VadimUrasin v1.5.0. http://predictor.ydna.ru/ [Accessed 27 May 2016].
View in Google Scholar

Veldhuis D, Underdown S.J. (2017) Human biology of migration, Annals of Human Biology 44:5, 393-396
View in Google Scholar

Wang CC, Jin L, Li H. 2014. Natural selection on human Y chromosomes. J. Genet. Genomics 41:47-52.
View in Google Scholar

Wang CC, Yan S, Li H. 2010. Surnames and the Y chromosomes. Commun. Contemp. Anthropol 4:26-33.
View in Google Scholar

Willuweit S, Roewer L. 2015. The new Y chromosome haplotype reference database. Forensic Science International: Genetics 15:43-48.
View in Google Scholar

Zaharova B, Andonova S, Gilissen A, Cassiman JJ, Decorte R, Kremensky I. 2001. Y-chromosomal STR haplotypes in three major population groups in Bulgaria. Forensic science international 124(2):182- 186.
View in Google Scholar

Zerjal T, Xue Y, Bertorelle G, Wells RS, Bao W, Zhu S, et al. 2003. The genetic legacy of the Mongols. The American Journal of Human Genetics 72(3):717-721.
View in Google Scholar

Downloads

Published

2018-09-30

How to Cite

Šehović, E., Zieger, M., Spahić, L., Marjanović, D., & Dogan, S. (2018). A glance of genetic relations in the Balkan populations utilizing network analysis based on in silico assigned Y-DNA haplogroups. Anthropological Review, 81(3), 252–268. https://doi.org/10.2478/anre-2018-0021

Issue

Section

Articles