The E-V22 haplogroup and its East Asian congeners, ancient and modern

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[This is a guest post by Matthew Marcucci]

Population genetics is proving to be astonishingly useful in aiding the study of history, linguistics, archaeology, anthropology, and other disciplines.  One means of studying ancient human migrations is analysis of the so-called yDNA haplogroup.  In reviewing the modern-day distribution of my own yDNA haplogroup, I have come upon a fascinating contemporary Chinese lineage that may ultimately derive from an ancient or medieval Iranian or Caucasian source population.

Briefly, yDNA haplogroups result from the following basic process:  All men inherit Y-chromosomal DNA from their own fathers.  Random mutations in this yDNA are then passed on to the sons of those in whom they first occurred, and the process repeats ad infinitum.  (An analogous process occurs in women's mitochondrial DNA, which is transmitted to both sons and daughters.)  Through the approximate dating of these mutations, men can be differentiated into groups一so-called “haplogroups”一demarcated by their most-recent shared paternal-line ancestor.  Here, for example, is a recent paper published in the Journal of Human Genetics that analyzes the yDNA haplogroup frequencies among modern Japanese men.  A handy way to represent this pattern of genetic inheritance that ultimately links all men back to a “Y-chromosomal Adam” is by means of a phylogenetic “family” tree.

One yDNA haplogroup, which happens to be my own, is denominated E-V22.  A public online database of yDNA haplogroups, yFull, is helpfully organized in a phylogenetic manner, and the phylogeny of E-V22, at least based on the samples uploaded to yFull, reveals the following: 

It is possible to speculate endlessly about the historical migrations that led to E-V22’s present-day distribution, both in China and elsewhere.  Yet I note that the Dungan-Manchu-Mongol-Liaoning branch shares as a brother lineage the Caucasian-Iranian group consisting of three samples with respective Talysh, Persian, and Georgian-Azerbaijani origins.  Does this nearly 8,000-year-old Irano-Chinese lineage (with a Czech exemplar nested within them) reflect a more recent Silk Road-era migration eastward, or does the Chinese branch have altogether different, more ancient origins?  More fodder for speculation:  there is an ancient Xiongnu E-V22 sample among the data underlying a study from just last year entitled “Genetic population structure of the Xiongnu Empire at imperial and local scales.”  Perhaps the sequencing of more ancient DNA will one day give us the complete historical migratory picture, but the phylogeny of this lineage does seem to point in a westerly direction.



Selected readings


  1. Victor Mair said,

    April 10, 2024 @ 10:25 am

    Regarding "Italki", I originally questioned it thus: to my knowledge — it is an online language learning platform.

    Matt replied: "Italki" refers to the indigenous Italian-Jewish population. The plural is "Italkim," deriving from the Hebrew word for Italy. (Cf. "Ashkenazi" and "Ashkenazim" for German [and, more broadly, Northern and Eastern European Jews].)

  2. Matt said,

    April 10, 2024 @ 10:35 am

    Thanks, Victor! To be a bit more precise, "Italki" derives specifically from the Hebrew word for "Italian" as in an Italian person, rather than the Hebrew word for "Italy" broadly, which transliterates to something like "Italia."

  3. David Marjanović said,

    April 11, 2024 @ 10:35 am

    8,200 “ybp,” or years-before-present.

    It's not going to matter here, but for the sake of completeness here's a reminder that Present is 1950; I'm writing this in the year 74 After Present.

    Yet I note that the Dungan-Manchu-Mongol-Liaoning branch shares as a brother lineage the Caucasian-Iranian group consisting of three samples with respective Talysh, Persian, and Georgian-Azerbaijani origins.

    Well, it has seven brother lineages in an unresolved polytomy – apparently there's not enough information to tell which of these are most closely related. (Theoretically, they could have been founded by eight sons of a single father, i.e. a "hard polytomy" as opposed to a "soft one" that merely shows a lack of data; but that's statistically very unlikely.) I don't know the actual sequences, so I can't tell if ancient DNA could help here.

    One of the seven is actually in northwestern Europe – France, Germany, Scotland!

  4. Matt said,

    April 11, 2024 @ 10:57 am

    David, thanks very much for your comments. Very apt to point out that we are writing in 74 AP! Re: "brother lineages," E-BY7308 (inclusive of the Chinese lineages that are the subject-matter of my post) and E-Z1349 (the Caucasian-Iranian group) together appear to be downstream of E-FGC2726, which has a 7,800 years-before-present TMRCA. It is *that* lineage, E-FGC2726, that in turn appears to be part of the polytomy to which you refer (E-L1250). E-L1250 includes the France/Germany/Scotland branch, which I coincidentally believe to be my own (despite my central Italian paternal origins; Roman-era migrations by soldiers to secure the Empire's fringes, perhaps?). I am optimistic that more ancient DNA will fill in the gaps you point out.

  5. David K said,

    April 12, 2024 @ 6:21 pm

    Isn't it very possible that the Central Asian E-V22 including the Xiongnu sample are derived from Neolithic migrants from the Near East? I refer to the settlers at Jeitun in Turkmenistan, the forerunners of the BMAC civilization.

  6. Matt said,

    April 13, 2024 @ 7:04 am

    Absolutely, David K. These lineages are so old and deep that it's impossible to resolve their respective phylogenies without additional sampling.

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