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Genome of Peştera Muierii skull shows high diversity and low mutational load in pre-glacial Europe.
Emma Svensson, Torsten Günther, Alexander Hoischen, Montserrat Hervella, Arielle R. Munters, Mihai Ioana, Florin Ridiche, Hanna Edlund, Rosanne C. van Deuren, Andrei Soficaru, Concepción de-la-Rua, Mihai G. Netea, Mattias Jakobsson,
Current Biology, 2021,ISSN 0960-9822,
https://doi.org/10.1016/j.cub.2021.04.045.
(https://www.sciencedirect.com/scienc...60982221005923)
Highlights
• Peştera Muierii woman is related to Europeans, but she is not a direct ancestor
• Reduced diversity in Europe caused by Last Glaciation, not out-of-Africa bottleneck
• Genetic load appears indifferent across 40,000 years of European history
• New DNA extraction approach recovers up to 33 times more DNA from ancient remains
Summary - Few comlete 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 “Peştera Muierii,” Romania who lived ∼34,000 years ago to 13.5× 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 (∼3.1%) to most EUP humans but only half compared to the ∼40,000-year-old Peştera 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.
Keywords
Emma Svensson, Torsten Günther, Alexander Hoischen, Montserrat Hervella, Arielle R. Munters, Mihai Ioana, Florin Ridiche, Hanna Edlund, Rosanne C. van Deuren, Andrei Soficaru, Concepción de-la-Rua, Mihai G. Netea, Mattias Jakobsson,
Current Biology, 2021,ISSN 0960-9822,
https://doi.org/10.1016/j.cub.2021.04.045.
(https://www.sciencedirect.com/scienc...60982221005923)
Highlights
• Peştera Muierii woman is related to Europeans, but she is not a direct ancestor
• Reduced diversity in Europe caused by Last Glaciation, not out-of-Africa bottleneck
• Genetic load appears indifferent across 40,000 years of European history
• New DNA extraction approach recovers up to 33 times more DNA from ancient remains
Summary - Few comlete 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 “Peştera Muierii,” Romania who lived ∼34,000 years ago to 13.5× 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 (∼3.1%) to most EUP humans but only half compared to the ∼40,000-year-old Peştera 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.
Keywords
Several genetically distinct hunter-gatherer groups were likely present in Eurasia between 45 and 30 kya,13, 14, 1516 differing in their relationship to later Stone Age groups and modern-day populations. Archaeogenomic studies have revealed a separation between European (e.g., Goyet Q116-1 from present-day Belgium and Sunghir III and Kostenki 14 from present-day Russia)14,29,30and East Asian hunter-gatherers (e.g., Tianyuan)41,42in this period, but genetic data also exist from groups that did not contribute directly to modern-day Eurasians (e.g., Ust’-Ishim and Oase 1).28 40 Genetically, Peştera Muierii 1 falls into the genetic variation of European hunter-gatherers of similar age (Figure 3), but not with the older Ust’-Ishim or Oase 1 individuals, despite the geographic proximity to the latter. The genetic resemblance between these EUP individuals (Sunghir III, Kostenki 14, and Peştera Muierii 1) shows extensive genetic similarities across space (2,000 km separate the Romanian and Russian sites) and suggests that stratification rather follows time than geography. Modeling the relationships as admixture graph, Peştera Muierii 1 is genetically intermediate between Eastern and Western European hunter-gatherer groups and shows distant relationships to later hunter-gatherers who contributed to modern Europeans (Figure 3). PM1 shows similar affinities to all modern-day European populations (Figure S2B), but she also displays substantial private genetic drift (Figure S3H), suggesting that she represents a group that was a side branch to the ancestor of modern-day Europeans.