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Genome of Pesxtera Muierii skull shows high diversity and low mutational load in pre-glacial Europe

Svensson, Emma; Gunther, Torsten; Hoischen, Alexander; Hervella, Montserrat; Munters, Arielle R.; Ioana, Mihai; Ridiche, Florin; Edlund, Hanna; van Deuren, Rosanne C.; Soficaru, Andrei; de-la-Rua, Concepcion; Netea, Mihai G.; Jakobsson, Mattias

CURRENT BIOLOGY
2021
VL / 31 - BP / 2973 - EP / U21
abstract
Few complete human genomes from the European Early Upper Palaeolithic (EUP) have been sequenced. Using novel sampling and DNA extraction approaches, we sequenced the genome of a woman from "Pesxtera Muierii,"Romania who lived similar to 34,000 years ago to 13.5x coverage. The genome shows similarities to modern-day Europeans, but she is not a direct ancestor. Although her cranium exhibits both modern human and Neanderthal features, the genome shows similar levels of Neanderthal admixture (similar to 3.1%) to most EUP humans but only half compared to the similar to 40,000-year-old Pesxtera Oase 1. All EUP European hunter-gatherers display high genetic diversity, demonstrating that the severe loss of diversity occurred during and after the Last Glacial Maximum (LGM) rather than just during the out-of-Africa migration. The prevalence of genetic diseases is expected to increase with low diversity; however, pathogenic variant load was relatively constant from EUP to modern times, despite post-LGM hunter-gatherers having the lowest diversity ever observed among Europeans.

AccesS level

Hybrid

MENTIONS DATA