• Inference of human pigmentation from ancient DNA bygenotype likelihoods

    From Primum Sapienti@21:1/5 to All on Thu Jul 24 22:34:15 2025
    XPost: sci.archaeology

    https://www.pnas.org/doi/epdf/10.1073/pnas.2502158122

    Abstract
    Light eyes, hair, and skins probably evolved several
    times as Homo sapiens dispersedfrom Africa. In areas
    with lower UV radiation, light pigmentation alleles
    increased in frequency because of their adaptive
    advantage and of other contingent factors such as
    migration and drift. However, the tempo and mode of
    their spread is not known. Phenotypic inference from
    ancient DNA is complicated, both because these
    traits are polygenic and because of low sequence depth.
    We evaluated the effects of the latter by randomly
    removing reads in three high-coverage ancient samples,
    the Paleolithic Ust’- Ishim from Russia, the Mesolithic
    SF12 from Sweden, and the Neolithic I5077 from current
    Croatia. We could thus compare three approaches to
    pigmentation inference, concluding that for suboptimal
    levels of coverage (<8×), a probabilistic method
    estimating genotype likelihoods leads to the most
    robust predictions. We then applied that protocol to
    348 ancient genomes from Eurasia, describing how skin,
    eye, and haircolor evolved over the past 45,000 y.
    The shift toward lighter pigmentations turned out to
    be all but linear in time and place, and slower than
    expected, with half of the individuals showing dark
    or intermediate skin colors well into the Bronze and
    Iron ages. We also observed a peak of light eye
    pigmentation in Mesolithic times, and an accelerated
    change during the spread of Neolithic farmers over
    Western Eurasia, although localized processes of gene
    flow and admixture, or lack thereof, also played a
    significant role.

    "By a probabilistic approach, we showed that eye,
    hair, and skin color changed substantially through
    time in Eurasia. It was reasonable to imagine that
    the first hunting-gathering settlers, who came from
    warmer climates, had mostly dark pigmentation. We
    are now showing that their phenotypes persisted up
    to the Iron age. We found the earliest instance of
    light skin color in the Swedish Mesolithic, but it
    comes from only one sample in >50. Things changed
    afterward, but very slowly, so that only in the
    Bronze Age did the frequency of light skins equal
    that of dark skins in Europe; during much of
    prehistory, most Europeans were dark-skinned. A
    similar trend, with dark pigmentation long
    coexisting with an increasing, yet relatively small
    proportion of lighter traits, is observed for hair
    and eye color, although there was a temporary peak
    of light eye frequency in the Mesolithic period,
    when we inferred light pigmentation for 11 out of
    35 samples."

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