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Population genetic structure of the Italian peninsula


A new open-access paper on Italian genetics, Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe:

European populations display low genetic differentiation as the result of long-term blending of their ancient founding ancestries. However, it is unclear how the combination of ancient ancestries related to early foragers, Neolithic farmers, and Bronze Age nomadic pastoralists can explain the distribution of genetic variation across Europe. Populations in natural crossroads like the Italian peninsula are expected to recapitulate the continental diversity, but have been systematically understudied. Here, we characterize the ancestry profiles of Italian populations using a genome-wide dataset representative of modern and ancient samples from across Italy, Europe, and the rest of the world. Italian genomes capture several ancient signatures, including a non–steppe contribution derived ultimately from the Caucasus. Differences in ancestry composition, as the result of migration and admixture, have generated in Italy the largest degree of population structure detected so far in the continent, as well as shaping the amount of Neanderthal DNA in modern-day populations.

My interpretation of what’s in the paper

– The largest impact on genetic variation across all Italians is “Early European Farmers” who derive from the expansion about of Anatolia. The descendants of Pleistocene hunter-gatherers had a marginal impact and were mostly absorbed.

– A “steppe” component shows a north-south gradient and seems to have arrived in the 3rd millennium. It’s almost absent in Sardinia. It is a minority component, but I believe it brought Indo-European languages to the Italian peninsula.

– Looking at the Tuscan results (more affinity with northern than southern Italy), it seems to me that the genetic impact of West Asians leading to the emergence of Etruscans is now no longer quite so viable. We’ll see. But the demographic impact of the steppe people seems to have been lesser in the Southern European peninsulas than in Northern Europe. Basque survived into the modern period in Spain. Paleo-Sardinian, which persisted into Classical times, was probably not Indo-European. And the ancient languages of Crete seem to have been non-Indo-European. It seems entirely plausible that Etruscan then was a pre-Indo-European survival, though the relationship to Lemnian is still there.

– Southern Italy and Sicily is interesting because of the strong West Asian (“Caucasus”) imprint. A 2017 paper on ancient Mycenaean and Minoan genomes showed evidence of gene-flow from the same area, likely during the Copper or Bronze Age. This could be part of the same migration. Or, it could be part of the legacy of Magna Graecia, the colonization of the region by Greeks during antiquity. Or, it could be due to Roman and later admixtures and migrations.

– The evidence of North African ancestry in Sicily is due probably to the settlements during the two centuries of Islam rule, when Sicily was in many ways part of greater North Africa.

7 thoughts on “Population genetic structure of the Italian peninsula

  1. “a non–steppe contribution derived ultimately from the Caucasus”

    Armenians and Georgians remind me of Greeks and Italians. I’d assumed cultural influence from Greece and Italy via the Black Sea to Armenia. But maybe there was an ancient migration from Armenia to Italy?

    Events in the history of the Mediterranean tend to at least have legends attached to them (e.g., Jason and the Argonauts went to modern Georgia), but I’ve never heard of a migration from the Caucasus to Italy.

  2. The Caucasian component didnt enter Italy, for the most part, in pure form, but a solution.
    Like they write about Steppe and Anatolian Bronze Age.

    The Levantine influences are unlikely to have come at once, but can be attributed to constant gene flow or serial pulses. In early BA related to Minoan like people, in historical times with Phoenicians, Greeks, Near Easterners. Sicily for example had a lot of trade, seafaring and Latifundia with dependent farmers and slaves in Roman times.

    The impact of those movements was weaker in the North, with more slaves and migrants, as well as later conquerers coming from the Transalpine regions.
    So every Northern influence was stronger in N-Italy, all Eastern Mediterranean ones in the South. That just adds up.

  3. Steve Sailer,

    The Etruscan, Rhaetic, and perhaps even Lemnian languages all seem to be related to one another. This makes sense, as they were likely different languages deriving from what the Early European Farmers were speaking.

    Linguists who have analyzed the Eteocretan inscriptions, however, have a hard time linking the language of those writings to the Etruscan-related ones. We’re peering through the glass darkly, but it’s far from unlikely that the Minoans spoke a language which wasn’t Indo-European, but wasn’t related to other such pre-Indo-European languages either.

    My guess is that the Minoans were related to Caucasian/Anatolian migrants who moved to Europe after the first waves of EEF. Maybe the Kura-Araxes culture? From there, they made some sort of linguistic and genetic impact on the Aegean, and the later Greeks would have a notable impact on Southern Italy.

    Finally, most ethnonyms for the Greeks usually call them words relating to Greece, Ionia, or Hellas. But the Georgian word for Greece is “Saberdzneti,” and the word for Greeks is “Berdzeni.” No one is 100% sure where this unique ethnonym comes from, but Berdzeni may be related to Pelasgian (Ber – Pel, dz – s).

    As such, there may an especially ancient relationship between the Aegean and Caucasus.

  4. @Razib

    There have been rumors of an Italian aDNA paper in the pipeline. From Hannah Moots at Stanford.

    Do you know anything about that?

  5. @Razib

    There has been a little chatter about it lately over at Anthrogenica. A guy pops out of nowhere and posts some tasty bits of information, for example

    https://anthrogenica.com/showthread.php?16487-The-Italian-Peninsula-through-Ancient-DNA&p=593731&viewfull=1#post593731

    Iron age Italian populations – including Etruscans and Italic tribes – were very homogeneous and predominantly R1b-U152+. Romans on the other hand autosomally were closer to Aegean populations and Y dna wise were very diverse including R1b-U152, R1b-P312(xU152), R1b-U106, T, G2a, I1, E1b, J2a, J2b and J1 haplogroups.

    I’m old enough to take everything I read on a forum with a grain of salt, but this seemed oddly specific. When I read your headline, I thought it was this paper.

  6. How are they not detecting the huge amounts of CHG in Northern and Eastern Europe that every other study shows? And Iran Neolithic only in Southern Italy? That doesn’t fit with other studies either, which say that IN and CHG are related and come from Indo-Europeans; at least Greece and the Balkans should have some too.

    The GLOBETROTTER program they used for detecting and dating admixture events has a lot of problems:

    https://dienekes.blogspot.com/2014/02/human-admixture-common-in-human-history.html

    And if MALDER replicated the GT admixture pattern, then maybe it has the same problems.

    Anyway, the components they say are recent “North African” and “West Asian” are already there in ancient populations in Fig. S7, like Anatolia_N, Peloponnese_N, Europe_EN, Iceman, Beaker_Northern_Italy (but weirdly not Beaker_Sicily), and many others.

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