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Europe-Eurasia: Phenotype - Hair/Skin/Eyes

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  • Europe-Eurasia: Phenotype - Hair/Skin/Eyes

    S3: Pigmentation variation of the Southern Arc in relation to West Eurasians

    Ancient art and literature from the classical world abound with depictions and references to the phenotypes of people from different parts of the world. Most often these involved stereotypical descriptions of “exotic” populations such as a few indicative passages below:

    The Gauls are tall of body, with rippling muscles, and white of skin, and their hair is blond, and not only naturally so, but they also make it their practice by artificial means to increase the distinguishing colour which nature has given it.” (Diodorus Siculus, The Library of History, Bk. IV, 28; 1stc. BCE)

    For my own part, I agree with those who think that the tribes of Germany are free from all taint of inter-marriages with foreign nations, and that they appear as a distinct, unmixed race, like none but themselves. Hence, too, the same physical peculiarities throughout so vast a population. All have fierce blue eyes, red hair, huge frames, fit only fora sudden exertion. They are less able to bear laborious work. Heat and thirst they cannot in the least endure; to cold and hunger their climate and their soil inure them.” (Tacitus, Germania, 4; 1stc. CE)

    But mortals suppose that gods are born, wear their own clothes and have a voice and body. (frag. 14) Ethiopians say that their gods are snub-nosed and black; Thracians that theirs are blue-eyed and red-haired.” (Xenophanes of Colophon, frag. 14, 16; 6thc. BCE)

    The Hellenes breakfasted and then startedforward on their march, having first delivered the stronghold to their allies among the Mossynoecians....The whole community, male and female alike, were fair-complexioned and white-skinned.” (Xenophon, Anabasis, Bk. 5, IV; 4thc.BCE)

    The Greek physician and philosopher Galen (De Temperamentis, 2.5; 2ndc. CE) contrasts the thin, straight, light “red” hair of inhabitants of cold and damp regions (Illyrians, Germans, Dalmatians, Sauromatians, and “all Scythians”) with the thick, curly, black hair of warm and dry ones (Egyptians, Arabs, and Indians), and with the moderately dark hair of those of intermediate regions (“μελαίνας μετρίως καὶ παχείας συμμέτρως καὶ οὔτ’ ἀκριβῶς οὔλας οὔτ’ ἀκριβῶς εὐθείας./ melainas metriôs kai pakheias summetrôs kai out’akribôs oylas out’ akribôs eutheias)

    This “climate theory” of light pigmentation was echoed by Vitruvius who suggested (On Architecture, 6.1.3; 1stc. BCE) that “the people of the north are so large in stature, so light in complexion, and have straight red hair, blue eyes, and are full of blood, for they are thus formed by the abundance of the moisture, and the coldness of their country.”

    While these descriptions correspond to a degree to what is known about the modern
    variation of pigmentation traits, they do not inform about the distribution of the different phenotypes in the ancient world, not do they inform about the statistical distribution of the different phenotypes in the different populations. For example, the description of the Gauls suggests that hair color may be a darker shade of blond that could be artificially lightened; the description of the Germans that they are all blue-eyed, a categorical statement not applicable to any known population: surely there were many in Germania compared to the Mediterranean world of Tacitus, but what fraction of the population did they make? The same question might apply to Xenophanes’ Thracians in southeastern Europe who surely did not all have blue eyes, but probably more than the people of Colophon in northwestern Anatolia. Finally, in Xenophon’s account of the escape from Mesopotamia to the Black Sea of his group of Greek mercenaries, he must have encountered a group of people with light skin pigmentation, an observation that might indirectly contrast to the numerous other tribes encountered during the long trek.


    Ancient art which was often polychromatic
    (54)furnishes independent evidence of ancient phenotypes, but that too is limited by degradation over time, questions about the realistic vs. idealistic portrayal of human figures, and the choice of subjects depicted. In only rare cases, such as the desiccated corpses of the Tarim basin(55)is there direct evidence of the phenotypes exhibited, although in such cases too post-mortem chemical processes in the soil must be considered.

    The question of what ancient populations looked came to be important during the 19th and 20th centuries with the rise of biological anthropology it became possible to study modern human phenotypic variation quantitatively and to infer how human populations came to be. An example of the association of phenotype with ideology was the emergence and promulgation of the “Aryan myth”(41). This idea, promoted by writers like Arthur de Gobineau(56)and Vacher de Lapouge(57)in France, but spreading to much of Europe, espoused the ideal of the “blond Aryan” master race, a theme that was later taken up by early 20thcentury writers such as Madison Grant(58)and Houston Chamberlain(59)and inspired racist ideologies and in some cases genocide in both the United States(60, 61)and Germany(62-64). These ideas often conflated phenotypic features (such as pigmentation or skull shape) with ancestry, nationality, and with psychological and behavioral traitsand leveraged the supposed history of the past to drive social policy in the present.

    The association continues to be sometimes be made
    (65, 66)marshalling the evidence of biological anthropology, ancient art, and literature, that the Proto-Indo-Europeans had traits of depigmentation of the hair, eyes, and skin that largely correspond to the “Aryan myth” of past generations. For a useful summary of the persistence of this myth from its beginningsto the present see(67).

    In this section we use the HIrisPlex-S system(40,68,69)to infer the pigmentation phenotypes of 4,118 ancient West Eurasians. Of these, 3,761 had data on at least one SNP of the system and could thus be submitted for phenotype prediction. Data was sufficient to make a prediction for 1,935 individuals in total. We limit our discussion to a subset of 1,899 individuals for which predictions were made for all phenotypes.

    As in a previous publication(4)we simulated genotypes (10 random trials per individual) given genotype likelihoods at each SNP and a prior on the overall allele frequency of each SNP and submitted these to the online HIrisPlex-S website (https://hirisplex.erasmusmc.nl/). We averaged the results for the 10 trials and make phenotype prediction for the four categories based on these averages (HairSimple: “light” or “dark”, HairDetailed: “red”, “blond”, “brown”,“black”, Eye: “blue”, “intermediate”, “brown”, and Skin color: “very pale”, “pale”,“intermediate”, “dark”, “dark-to-black”).

    We enter three notes of caution. First, phenotypic prediction is not entirely accurate even for modern individuals with perfect genotype information and is less likely to be so in ancient ones. Second, we cannot exclude the possibility that pigmentation in ancient individuals may have been affected by loci not included in the HIrisPlex-S system. Third, the individual predictions of pigmentation are likely to be subject to noise, and so in our discussion we focus on general patterns observed among many individuals. These should be accurate to a degree for inferring the relative appearance of different groups using the best tool we currently possess and the available mostly low-coverage data. Thus, our results are provisional given these limitations, but show, nonetheless, some interesting patterns that we discuss below.

    Our first observation (Table S3) is that the modal phenotype of West Eurasians is one of dark brown hair, brown eyes, and intermediate skin, accounting for roughly ~1/3 of samples both in the Southern Arc and outside it. Thenext two most frequent phenotypes have black instead of
    brown hair and either intermediate or dark skin. A wide variety of phenotypes are found both within the Southern Arc and outside it, although several rare depigmented phenotypes at the bottom of Table S3are found only outside the Southern Arc; this, however, should be considered with the knowledge of the larger sample size of non-Southern Arc individuals. The latter include individuals from Europe (outside the countries included in the Southern Arc), and the steppe-to-central South Asia.



    By examining simple phenotypes (
    Table S3) we see that Southern Arc individuals have a
    lower frequency of light hair, blond hair, blue eyes, and pale skin compared to non-Southern Arc
    ones, a finding that is in agreement with the ancient sources that commented on the appearance
    of Celts, Germans, and Scytho-Sarmatians from Europe and Central Asia.
    Note that these sources are from the 1stmillennia BCE/CE, a narrower time range than that
    of our samples which extend millennia into the past when there were no written sources. InTable
    S4we tabulate phenotypic information for the populations of the Caucasian and Anatolian-
    Aegean bridge (of Fig. 2) which are from the Chalcolithic and Bronze Age. These show that the
    modal phenotype had dark brown hair, brown eyes, and intermediate skin pigmentation in most populations. The Beaker group (with a large sample size) stands out with its higher frequency of
    blue eyes and blond hair; this group’s territory coincided largely with that of the later historical
    Celtic and (partly) Germanic groups of Europe. But none of the individuals from the Early
    Bronze Age Yamnaya cluster exhibited these phenotypes, suggesting a turnover of phenotypes
    before the time of the written sources.

    To get a better picture of phenotype variation in West Eurasia beyond the
    Southern Arc we tabulated
    phenotype distribution (
    Table S5) in all populations of our dataset with at least 5 individuals. We infer the presence
    of depigmented phenotypes in the Southern Arc, listing examples of early regional presence
    below:
    Blue eyes were present in the Chalcolithic of the Levant (Israel)(70), Neolithic of
    Anatolia (Turkey) at Barn(5)and Chalcolithic at Arslantepe andÇamlıbelTarlası(30), and
    Chalcolithic Southeastern Europe (RomaniaatBodrogkeresztur).
    Blond hair was present in the Neolithic of Anatolia (Turkey) at Barn(5), Chalcolithic
    Southeastern Europe (Romania atBodrogkeresztur), Chalcolithic of the Levant (Israel)(70), and
    a Minoan from Lasithi.(4)
    Pale skin was inferred for Chalcolithic Southeastern Europe (Romania at
    Bodrogkeresztur), Iron Age Iran (Hasanlu), Croatia and Bulgaria, and Late Bronze Age
    Montenegro.
    Did steppe groups possess these traits to a higher frequency than the inhabitants of the
    Southern Arc?
    Blue eyes were not inferred for all 19 individuals of the Yamnaya cluster examined (Table S
    4)and for 1/15 individuals of the Afanasievo culture. They were found at a higher frequency
    (~29-55%) at the later Middle-to-Late Bronze Age samples of the Srubnaya, Sintashta cultures
    and at Krasnoyarsk in Russia(5, 33,23, 71, 72)and Kazakhstan (Aktogai and Maitan
    Alakul),(52)i.e., populations with elevated Anatolian/European farmer ancestry.(5)They were
    also present in Early/Middle Neolithic farmers from Central Europe including the LBK (first
    farmers of central Europe) and Globular Amphora culture,(73)and at the highest observed
    frequencies in farmers from Scandinavia and the Baltics (EBN Narva in Lithuania(74)and
    Motala in Sweden(5, 10, 34)). Similarly, blond hair was inferred for 1/34 individuals of the
    combined Yamnaya and Afanasievo cluster, but reached ~14-60% in the aforementioned later
    steppe groups. Interestingly, light pigmentation phenotype prevalence was nominally higher in
    the Beaker group than in Corded Ware than in the Yamnaya cluster (where as we have seen it
    was rare), in reverse relationship to steppe ancestry, and thus inconsistent with the theory that
    steppe groups were spreading this set of phenotypes.

    As for the category of pale skin that is very limited in samples
    from the Southern Arc as a
    whole (1.7%), it appears to have been rare in all the studied samples in general, exceeding 1/4 in
    frequency only in Medieval Germany, Saxons from England, Central European outliers from
    Late Antique Italy, Pre-Christian Icelanders, with the earliest high frequency found in Bronze

    Age Latvians at 37.5% (3/8).
    Our survey of pigmentation phenotypes is not meant to be a comprehensive treatment of
    how these varied in space and time, but we highlight three key observations:
    The modal phenotype of the Southern Arc and West Eurasia was as expected one with
    dark hair, eyes, and intermediate skin pigmentation, similar to other Eurasians.
    The distinctive depigmentation found in modern groups was not associated with a
    particular type of ancestry in the past, as light eyes and hair were found in both West Asia and
    Europe, and among early farming, steppe pastoralist, as well as hunter-gatherer groups.
    The frequency of these traits could have been shaped by migration or by selection, but is
    more complex than simplistic stories, e.g., of these traits arising due to sexual selection in boreal
    hunter-gatherers(75) or spread by steppe Indo-Europeans.(68)
    Surveying the history of thought on human pigmentation differences, we can remark that
    the ancient writers of the classical world more or less accurately described the average lighter
    pigmentation of populations of central/northern Europe and the Eurasian steppe, although they
    lacked the statistical vocabulary to express these in relative terms and exaggerated what various
    ancient groups (such as the “Celts” or “Scythians”) looked like. Their theory that these
    differences were linked to climate was fundamentally flawed, as we know that people with quite
    different pigmentation lived in more less similar conditions of e.g., central Europe at the time of
    the farmers or the medieval period or the steppe in the Early Bronze Age or the time of the
    Scytho-Sarmatians with which they were familiar.
    The promulgators of the Aryan myth also started with the present-day distribution of
    pigmentation phenotypes and came to a different conclusion: that these were not due to climate
    dictating a different phenotype for the cold north and temperate south, but rather of the existence
    of a primordial “race” of pale, blond, blue-eyed Proto-Indo-Europeans spreading their languages
    together with their phenotypes. Thus, they extrapolated the phenotype of some of their
    contemporaries and medieval ancestors backwards in time, postulating that it was asurvivalfrom
    the remote past that had decreased in frequency as this supposed “race” encountered and
    admixed with other populations. On the contrary, our survey of ancient phenotypes suggests that
    aspects of this phenotype were distributed in the past among diverse ancestral populations and
    did not coincide in any single population except as isolated individuals, and certainly not in any
    of the proposed homelands of the Indo-European language family.

    Supplementary
    Materialsfor
    A genetic probe into the ancient and medieval history of Southern Europe and West Asia
    Iosif Lazaridis, Songül Alpaslan-Roodenberget al. 2022

    file:///C:/Users/18509/Downloads/science.abq0755_sm.pdf
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