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

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.The computations were performed on resources provided by SNIC through Uppsala Multidisciplinary Center for Advanced Computational Science (UPPMAX). Sequencing was performed by the SNP&SEQ Technology Platform in Uppsala. T.G. was supported by a grant from the Swedish Research Council Vetenskapsradet (2017-05267). M.G.N. was supported by a Spinoza grant of the Netherlands Organisation for Scientific Research and an ERC Advanced Grant (no. 833247). M.J. was supported by an ERC Starting Grant and the Knut and Alice Wallenberg Foundation. C.R. was supported by a Basque Government Grant to Research Groups of the Basque University System (IT1138-16)