Genetics of Europe

 

Phenotypes and Genetics of Europe’s Founding Populations

Modern Europeans descend from the fusion of three major Mesolithic and Neolithic lineages:

The WHG (Western Hunter-Gatherers) of Western Europe, the EEF (Early European Farmers) originating from Anatolia, and the EHG (Eastern Hunter-Gatherers) of the Eurasian steppe.

The WHG, Mesolithic hunter-gatherers who lived between 12,000 and 6,000 BC, had dark or olive skin, light (blue or gray) eyes, and dark brown hair. Genetically, they lacked the light-skin variants (SLC24A5, SLC45A2) but carried those responsible for light eyes (HERC2/OCA2).

The EEF, the first Neolithic farmers arriving from Anatolia between 8000 and 5000 BC, introduced to Europe the derived SLC24A5 mutation associated with lighter skin. They likely had light to medium complexions, dark hair and eyes, and more Levantine or Mediterranean features.

The EHG, hunter-gatherers of Eastern Europe and the Eurasian steppe, had light skin, light eyes, and often fair or blond hair, due to the combination of SLC24A5, SLC45A2, and KITLG (rs12821256) variants. They represent the “steppe” component that later contributed to the rise of the Indo-European cultures.

From the fusion of these three ancestral groups , western, Anatolian, and eastern, between 5000 and 3000 BC emerged the great genetic and phenotypic diversity of Europe: light and dark eyes, hair ranging from black to blond, and skin tones from Mediterranean to Nordic.

(Sources: Lazaridis et al., Nature 2014; Haak et al., Nature 2015; Mathieson et al., Nature 2015; Olalde et al., Nature 2018; Skoglund & Reich 2016; Brace et al., Nature Ecology & Evolution 2019; Lazaridis et al., Nature 2022; Rivollat et al., Science Advances 2023; Peltola et al., eLife 2024; Papac et al., PNAS 2024.)