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. 2019 Jun 26;5(6):eaaw5873.
doi: 10.1126/sciadv.aaw5873. eCollection 2019 Jun.

Nuclear DNA from two early Neandertals reveals 80,000 years of genetic continuity in Europe

Stéphane Peyrégne  1 , Viviane Slon  1 , Fabrizio Mafessoni  1 , Cesare de Filippo  1 , Mateja Hajdinjak  1 , Sarah Nagel  1 , Birgit Nickel  1 , Elena Essel  1 , Adeline Le Cabec  2 , Kurt Wehrberger  3 , Nicholas J Conard  4 , Claus Joachim Kind  5 , Cosimo Posth  6 , Johannes Krause  6 , Grégory Abrams  7 , Dominique Bonjean  7 , Kévin Di Modica  7 , Michel Toussaint  8 , Janet Kelso  1 , Matthias Meyer  1 , Svante Pääbo  1 , Kay Prüfer  1   6
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Nuclear DNA from two early Neandertals reveals 80,000 years of genetic continuity in Europe

Stéphane Peyrégne et al. Sci Adv. .

Abstract

Little is known about the population history of Neandertals over the hundreds of thousands of years of their existence. We retrieved nuclear genomic sequences from two Neandertals, one from Hohlenstein-Stadel Cave in Germany and the other from Scladina Cave in Belgium, who lived around 120,000 years ago. Despite the deeply divergent mitochondrial lineage present in the former individual, both Neandertals are genetically closer to later Neandertals from Europe than to a roughly contemporaneous individual from Siberia. That the Hohlenstein-Stadel and Scladina individuals lived around the time of their most recent common ancestor with later Neandertals suggests that all later Neandertals trace at least part of their ancestry back to these early European Neandertals.

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Figures

Fig. 1
Fig. 1. Sites from which partial to complete nuclear genomes from Neandertals (or their ancestors in Sima de los Huesos) were retrieved.
References (, , , , –36) describe Neandertal genomic data from these sites. The origins of the two Neandertals studied here are highlighted in purple and blue, respectively.
Fig. 2
Fig. 2. Genetic relationship of HST and Scladina to Vindija 33.19 and the Altai Neandertal.
The three possible tree topologies relating these Neandertals (H/S, HST or Scladina) are depicted in the middle. Mutations occurring on the internal branch (white points) produce an allelic configuration (A, ancestral; D, derived) that is informative of the underlying tree topology. Genome-wide counts of sites with the described configurations are presented on both sides (HST on left and Scladina on right) on the x axis. Lighter colors correspond to results using the alignments to the human reference hg19 (original) and to both hg19 and the Neandertalized reference (no reference bias). The darker points are corrected for present-day human DNA contamination assuming 2.0 and 5.5% contamination in the deamination-filtered fragments from HST and Scladina, respectively. The Vindija-like configuration (red) is the most supported topology after correcting for reference bias and contamination. The two other topologies are the result of incomplete lineage sorting and are equally likely. Bars represent 95% binomial CIs.
Fig. 3
Fig. 3. Two scenarios to explain the deep divergence of HST’s mtDNA to other Neandertal mtDNAs.
The HST mitochondrial lineage is shown as a green line; all other Neandertal mtDNAs are shown in black. Green and yellow areas indicate populations (Neandertals in green and relatives of modern humans in yellow). The area shaded in blue shows the glacial period (MIS 6, marine isotope stage 6) (37). Note that all Neandertal mtDNA lineages in the right-hand scenario could be introgressed from modern human relatives before 270 ka ago (10).
See this image and copyright information in PMC

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