Relevance of the scientific project

Situated at the convergence of global civilizations and historical migrations, Central Asia plays a pivotal role in unraveling the genetic history of Eurasia. Previous research in the region has unveiled notable genetic diversity on the Y chromosome. The novel project seeks to discern the timing and circumstances surrounding the genesis of this diversity by delving into new, highly detailed haplogroups of the Y chromosome and their expanded haplotypes. This initiative aims to evaluate and reconstruct the patrilineal genetic continuity from ancient Central Asian populations to the contemporary indigenous peoples, including an exploration of the genetic genealogy among the patrilineal tribes of Central Asia.

Purpose of the project

To determine the contribution of male lines to the formation of the genetic diversity of Central Asia based on the analysis of deep resolution Y-chromosome haplogroups and extended Y-chromosome haplotypes.

Expected results

Collection of DNA samples of the modern population of Central Asia. Determination of extended Y-chromosome haplotypes in the modern population of Central Asia. Screening of Y-chromosome haplogroups with deep resolution in the modern population of Central Asia. Systematization of knowledge about the genetic diversity of the Y chromosome in Central Asia. Phylogenetic and phylogeographic analysis of Y-chromosome polymorphism data in Central Asia.

Principal investigator (PI)

Maxat Zhabagin, PhD, Associate Professor

Scopus Author ID: 56590111900

Research team members

Dyusenova Zh.S., Specialist in the field of forensic genetics (Tselinograd State Medical Institute, Kazakhstan). Areas of scientific interest: forensic genetics.

Tazhigulova I.M., Bachelor of Science in Biology (Karaganda State University named after E.A. Buketov, Kazakhstan), Master of Science in Forensic Genetics and Forensic Genetics (Karaganda State University named after E.A. Buketov, Kazakhstan and Royal College London, UK). Areas of scientific interest: forensic genetics.

Seiduali M.Zh., Bachelor of Science in Biology (Ulsan National Institute of Science and Technology, South Korea), Master of Science in Bioinformatics (University of Edinburgh, Scotland, United Kingdom). Areas of scientific interest: analysis of the human genome and paleogenetics.

Bukaev A.A., Bachelor in biology (Kazakh Agrotechnical Research University named after S. Seifullin, Kazakhstan), Master in criminology (Eurasian National University named after L.N. Gumilyov, Kazakhstan). Areas of scientific interest: forensic genetics.

Bukaeva A.T., Bachelor in biology (Eurasian National University named after L.N. Gumilyov, Kazakhstan), Master in the field (Eurasian National University named after L.N. Gumilyov, Kazakhstan). Areas of scientific interest: human population genetics.

Fayzov B.K., 2nd year master’s student in biology (Eurasian National University named after L.N. Gumilyov, Kazakhstan). Areas of scientific interest: human population genetics.

Publications of PI and Research team related to the Project

1. Ashirbekov Y, Seidualy M, Abaildayev A, Maxutova A, Zhunussova A, Akilzhanova A, Sharipov K, Sabitov Z, Zhabagin M. Genetic polymorphism of Y-chromosome in Kazakh populations from Southern Kazakhstan. BMC Genomics. 2023 Oct 27;24(1):649. doi: 10.1186/s12864-023-09753-z. (Web of Science Rank by Journal Impact Factor 2022 – Category: Genetics & Heredity– Q1)
2. Ashirbekov Y, Nogay A, Abaildayev A, Zhunussova A, Sabitov Z, Zhabagin M. Genetic polymorphism of 27 Y-STR loci in Kazakh populations from Eastern Kazakhstan. Ann Hum Biol. 2023 Feb;50(1):48-51. doi: 10.1080/03014460.2023.2170465. (Web of Science Rank by Journal Impact Factor 2022 – Anthropology – Q2)
3. Zhabagin M, Wei LH, Sabitov Z, Ma PC, Sun J, Dyussenova Z, Balanovska E, Li H, Ramankulov Y. Ancient Components and Recent Expansion in the Eurasian Heartland: Insights into the Revised Phylogeny of Y-Chromosomes from Central Asia. Genes 2022, 13(10), 1776; https://doi.org/10.3390/genes13101776. (Web of Science Rank by Journal Impact Factor 2022 – Category: Genetics & Heredity– Q2)
4. Ashirbekov Y, Sabitov Z, Aidarov B, Abaildayev A, Junissova Z, Cherusheva A, Saidamarova VV, Sharipov K, Ramankulov Y, Zhabagin M. Genetic Polymorphism of 27 Y-STR Loci in the Western Kazakh Tribes from Kazakhstan and Karakalpakstan, Uzbekistan. Genes. 2022; 13(10):1826. doi:10.3390/genes13101826. (Web of Science Rank by Journal Impact Factor 2022 – Category: Genetics & Heredity– Q2)
5. Ashirbekov Y, Abaildayev A, Neupokoyeva A, Sabitov Z, Zhabagin M. Genetic polymorphism of 27 Y-STR loci in Kazakh populations from Northern Kazakhstan. Ann Hum Biol. 2022 Mar 7:1-3. doi: 10.1080/03014460.2022.2039292. (Web of Science Rank by Journal Impact Factor 2022 – Anthropology – Q2)
6. Kairov U, Molkenov A, Sharip A, Rakhimova S, Seidualy M, Rhie A, Kozhamkulov U, Zhabagin M, Kim JI, Lee JH, Terwilliger JD, Seo JS, Zhumadilov Z, Akilzhanova A. Whole-Genome Sequencing and Genomic Variant Analysis of Kazakh Individuals. Front Genet. 2022 Jul 11;13:902804. doi: 10.3389/fgene.2022.902804. (Web of Science Rank by Journal Impact Factor 2022 – Category: Genetics & Heredity– Q2)
7. Zhabagin M, Sabitov Z, Tazhigulova I, Alborova I, Agdzhoyan A, Wei LH, Urasin V, Koshel S, Mustafin K, Akilzhanova A, Li H, Balanovsky O, Balanovska E. Medieval Super-Grandfather founder of Western Kazakh Clans from Haplogroup C2a1a2-M48. J Hum Genet. 2021 Jan 29. doi: 10.1038/s10038-021-00901-5. (Web of Science Rank by Journal Impact Factor 2021 – Category: Genetics & Heredity– Q2)
8. Seidualy M, Blazyte A, Jeon S, Bhak Y, Jeon Y, Kim J, Eriksson A, Bolser D, Yoon C, Manica A, Lee S, Bhak J. Decoding a highly mixed Kazakh genome. Hum Genet. 2020 May;139(5):557-568. doi: 10.1007/s00439-020-02132-8. (Web of Science Rank by Journal Impact Factor 2020 – Category: Genetics & Heredity– Q1)
9. Zhabagin M, Sabitov Z, Tarlykov P, Tazhigulova I, Junissova Z, Yerezhepov D, Akilzhanov R, Zholdybayeva E, Wei LH, Akilzhanova A, Balanovsky O, Balanovska E. The medieval Mongolian roots of Y-chromosomal lineages from South Kazakhstan. BMC Genet. 2020 Oct 22;21(Suppl 1):87. doi: 10.1186/s12863-020-00897-5. (Web of Science Rank by Journal Impact Factor 2021 – Category: Genetics & Heredity– Q3)
10. Zhabagin M, Sarkytbayeva A, Tazhigulova I, Yerezhepov D, Li S, Akilzhanov R, Yeralinov A, Sabitov Z, Akilzhanova A. Development of the Kazakhstan Y-chromosome haplotype reference database: analysis of 27 Y-STR in Kazakh population. Int J Legal Med. 2019 Jul;133(4):1029-1032. doi: 10.1007/s00414-018-1859-8. (Web of Science Rank by Journal Impact Factor 2019 – Category: Medicine, Legal – Q1)
11. Zhabagin M, Balanovska E, Sabitov Z, Kuznetsova M, Agdzhoyan A, Balaganskaya O, Chukhryaeva M, Markina N, Romanov A, Skhalyakho R, Zaporozhchenko V, Saroyants L, Dalimova D, Davletchurin D, Turdikulova S, Yusupov Y, Tazhigulova I, Akilzhanova A, Tyler-Smith C, Balanovsky O. The Connection of the Genetic, Cultural and Geographic Landscapes of Transoxiana. Sci Rep. 2017 Jun 8;7(1):3085. doi: 10.1038/s41598-017-03176-z. (Web of Science Rank by Journal Impact Factor 2017 – Category: Multidisciplinary – Q1)
12. Balanovsky O, Zhabagin M, Agdzhoyan A, Chukhryaeva M, Zaporozhchenko V, Utevska O, Highnam G, Sabitov Z, Greenspan E, Dibirova K, Skhalyakho R, Kuznetsova M, Koshel S, Yusupov Y, Nymadawa P, Zhumadilov Z, Pocheshkhova E, Haber M, Zalloua PA, Yepiskoposyan L, Dybo A, Tyler-Smith C, Balanovska E. Deep phylogenetic analysis of haplogroup G1 provides estimates of SNP and STR mutation rates on the human Y-chromosome and reveals migrations of Iranic speakers. PLoS One. 2015 Apr 7;10(4):e0122968. doi: 10.1371/journal.pone.0122968. (Web of Science Rank by Journal Impact Factor 2015 – Category: Multidisciplinary – Q1)

Results achieved

2024 DNA samples were collected from populations of modern Central Asia. To complete the task, Turkmens (100), Uyghurs (200), Uzbeks (200), Kyrgyz (200) and Kazakhs (200) were collected from the collaborators’ biobank collections. Extended Y-chromosome haplotypes were determined for collected DNA samples from modern Central Asian populations using PCR (polymerase chain reaction) amplification in the reaction mixture of the Microreader™ Y Prime Plus or PowerPlexY23System, which include 17 standard Y-STR markers (DYS19, DYS385 a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y-GATA-H4), and extended rapidly mutating loci (RM).