Convergent evolution of complex adaptive traits enabled human life at high altitudes

Author:

Ferraretti Giulia,Rill Aina,Abondio Paolo,Smith Kyra,Ojeda-Granados Claudia,De Fanti Sara,Izzi Massimo,Sherpa Phurba T.,Cocco Paolo,Tiriticco Massimiliano,di Marcello Marco,Dezi Agnese,Gnecchi-Ruscone Guido Alberto,Natali Luca,Corcelli Angela,Marinelli Giorgio,Garagnani Paolo,Peluzzi Davide,Luiselli Donata,Pettener Davide,Sarno Stefania,Sazzini Marco

Abstract

AbstractConvergent adaptations represent paradigmatic examples of the capacity of natural selection to influence organisms’ biology. However, the possibility to investigate genetic determinants underpinning convergent complex adaptive traits has been offered only recently by methods for inferring polygenic adaptations from genomic data. Relying on this approach, we demonstrate how high-altitude Andean human groups experienced pervasive selective events at angiogenic pathways, which resemble those previously attested for Himalayan populations despite partial convergence at the single-gene level was observed. This provides unprecedented evidence for the drivers of convergent evolution of enhanced blood perfusion in populations exposed to hypobaric hypoxia for thousands of years.

Publisher

Cold Spring Harbor Laboratory

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