Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 Feb 7;17(Suppl 1):18.
doi: 10.1186/s12862-016-0870-2.

Phylogeography of Human Y-chromosome Haplogroup Q3-L275 From an Academic/Citizen Science Collaboration

Free PMC article

Phylogeography of Human Y-chromosome Haplogroup Q3-L275 From an Academic/Citizen Science Collaboration

Oleg Balanovsky et al. BMC Evol Biol. .
Free PMC article


Background: The Y-chromosome haplogroup Q has three major branches: Q1, Q2, and Q3. Q1 is found in both Asia and the Americas where it accounts for about 90% of indigenous Native American Y-chromosomes; Q2 is found in North and Central Asia; but little is known about the third branch, Q3, also named Q1b-L275. Here, we combined the efforts of population geneticists and genetic genealogists to use the potential of full Y-chromosome sequencing for reconstructing haplogroup Q3 phylogeography and suggest possible linkages to events in population history.

Results: We analyzed 47 fully sequenced Y-chromosomes and reconstructed the haplogroup Q3 phylogenetic tree in detail. Haplogroup Q3-L275, derived from the oldest known split within Eurasian/American haplogroup Q, most likely occurred in West or Central Asia in the Upper Paleolithic period. During the Mesolithic and Neolithic epochs, Q3 remained a minor component of the West Asian Y-chromosome pool and gave rise to five branches (Q3a to Q3e), which spread across West, Central and parts of South Asia. Around 3-4 millennia ago (Bronze Age), the Q3a branch underwent a rapid expansion, splitting into seven branches, some of which entered Europe. One of these branches, Q3a1, was acquired by a population ancestral to Ashkenazi Jews and grew within this population during the 1st millennium AD, reaching up to 5% in present day Ashkenazi.

Conclusions: This study dataset was generated by a massive Y-chromosome genotyping effort in the genetic genealogy community, and phylogeographic patterns were revealed by a collaboration of population geneticists and genetic genealogists. This positive experience of collaboration between academic and citizen science provides a model for further joint projects. Merging data and skills of academic and citizen science promises to combine, respectively, quality and quantity, generalization and specialization, and achieve a well-balanced and careful interpretation of the paternal-side history of human populations.

Keywords: Ashkenazi; Gene geography; Genetic genealogy; Haplogroup Q; Phylogeography; Population genetics; Y-chromosome.


Fig. 1
Fig. 1
Overview of haplogroup Q. a Global frequency distribution map of haplogroup Q-M242. The map was constructed using Q-M242 frequencies in 480 populations (total sample size 65,528). b Phylogenetic structure of haplogroup Q-M242 (modified from [24])
Fig. 2
Fig. 2
Frequency distribution map of haplogroup Q3-L275. a Data from indigenous populations from academic papers (total sample size 11,566). b Data from genealogical projects (Jewish projects not included, total sample size 23,730). The plotted frequencies were calculated as number of Q3-L275 carriers in the corresponding genealogical project divided to the total number of persons in the project
Fig. 3
Fig. 3
Phylogenetic tree of haplogroup Q3-L275 based on full sequences of the Y-chromosome. Additional file 2: Table S1 provides the detailed version of this tree. Notes contain ages (in kilo years) of the principal clades. Samples used for age calculations are shown in italic
Fig. 4
Fig. 4
Phylogeographic summary: geographic locations of individual branches. Colors of branches correspond to colors on the inset maps and Fig. 3

Similar articles

See all similar articles

Cited by 7 articles

See all "Cited by" articles


    1. Seielstad MT, Minch E, Cavalli-Sforza LL. Genetic evidence for a higher female migration rate in humans. Nat Genet. 1998;20(3):278–280. doi: 10.1038/3088. - DOI - PubMed
    1. Oota H, Settheetham-Ishida W, Tiwawech D, Ishida T, Stoneking M. Human mtDNA and Y-chromosome variation is correlated with matrilocal versus patrilocal residence. Nat Genet. 2001;29(1):20–21. doi: 10.1038/ng711. - DOI - PubMed
    1. Destro Bisol G, Capocasa M, Anagnostou P. When gender matters: new insights into the relationships between social systems and the genetic structure of human populations. Mol Ecol. 2012;21(20):4917–4920. doi: 10.1111/mec.12001. - DOI - PubMed
    1. Underhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH, Kauffman E, Bonné-Tamir B, Bertranpetit J, Francalacci P, et al. Y chromosome sequence variation and the history of human populations. Nat Genet. 2000;26(3):358–361. doi: 10.1038/81685. - DOI - PubMed
    1. Jobling MA, Tyler-Smith C. The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet. 2003;4(8):598–612. doi: 10.1038/nrg1124. - DOI - PubMed

LinkOut - more resources