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

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

doi:10.1016/j.cub.2021.04.045

Cited by 20 publications

(13 citation statements)

References 118 publications

(112 reference statements)

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“…These demographic models include an influx of unadmixed individuals into Europe from Northern Africa creating a 'dilution' effect of archaic ancestry in modern Europeans [39] or the occurrence of Neanderthal admixture into Europeans as well as East Asians (a 'three-pulse' model). There is growing evidence of encounters between modern humans and various Neanderthal populations in geographically distinct regions of Eurasia [42,[67][68][69][70]. On the question of whether Europeans also received additional Neanderthal ancestry, recent evidence indicates the earliest Europeans encountered and admixed with distinct Neanderthal lineages but failed to leave descendants in today's Europe (Oase-1 [59]), and some are more closely related to East Asian populations than modern Europeans [40].…”

Section: Discussionmentioning

confidence: 99%

“…Modern Europeans are also the product of multiple historic admixture and replacement events [7,[38][39][40], and their demographic history may have affected levels of Neanderthal ancestry. The earliest Europeans, who encountered European Neanderthals, were more closely related to East Asians than modern European populations are [41] and were replaced by later migrants after all Neanderthals had become extinct [42]. Europeans further received gene flow from other Eurasian populations [32,39,43] and maintained long-term gene flow with African populations [18,44].…”

Section: Introductionmentioning

confidence: 99%

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Apportioning archaic variants among modern populations

Witt

Villanea

Loughran

et al. 2022

Phil. Trans. R. Soc. B

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The apportionment of human genetic diversity within and between populations has been measured to understand human relatedness and demographic history. Likewise, the distribution of archaic ancestry in modern populations can be leveraged to better understand the interaction between our species and its archaic relatives. Resolving the interactions between modern and archaic human populations can be difficult, as archaic variants in modern populations have been shaped by genetic drift, bottlenecks and gene flow. Here, we investigate the distribution of archaic variation in Eurasian populations. We find that archaic ancestry coverage at the individual- and population-level present distinct patterns in modern human populations: South Asians have nearly twice the number of population-unique archaic alleles compared with Europeans or East Asians, indicating that these populations experienced differing demographic and archaic admixture events. We confirm previous observations that East Asian individuals have more Neanderthal ancestry than European individuals, but surprisingly, when we compare the number of single nucleotide polymorphisms with archaic alleles found across a population, Europeans have more Neanderthal ancestry than East Asians. We compare these results to simulated models and conclude that these patterns are consistent with multiple admixture events between modern humans and Neanderthals. This article is part of the theme issue ‘Celebrating 50 years since Lewontin's apportionment of human diversity’.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Apportioning archaic variants among modern populations

Witt

Villanea

Loughran

et al. 2022

Phil. Trans. R. Soc. B

View full text Add to dashboard Cite

show abstract

“…On the question of whether Europeans also received additional Neanderthal ancestry, recent evidence indicates the earliest Europeans encountered and admixed with distinct Neanderthal lineages but failed to leave descendants in today's Europe (Oase-1 [59]), and some are more closely related to East Asian populations (Hajdinjak et al 2021). These early Europeans were later replaced by human groups who only carried the original Neanderthal genomic ancestry shared by all Eurasians (Svensson et al 2021).…”

Section: Discussionmentioning

confidence: 99%

“…Europeans, however, have a complex history, and this may have affected levels of Neanderthal ancestry. The earliest Europeans, who encountered European Neanderthals, are more closely related to East Asians [34], and were replaced by later migrants after all Neanderthals had become extinct [35]. Europeans further received gene flow from other Eurasian populations [28,37], and maintained long-term gene flow with African populations [15,38].…”

Section: Introductionmentioning

confidence: 99%

On the Apportionment of Archaic Human Diversity

Villanea

Witt

Loughran

et al. 2021

Preprint

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The apportionment of human genetic diversity within and between populations has been measured to understand human relatedness and demographic history. Likewise, the distribution of archaic ancestry in modern populations can be leveraged to better understand the interaction between our species and its archaic relatives, and the impact of natural selection on archaic segments of the human genome. Resolving these interactions can be difficult, as archaic variants in modern populations have also been shaped by genetic drift, bottlenecks, and gene flow. Here, we investigate the apportionment of archaic variation in Eurasian populations. We find that archaic genome coverage at the individual- and population-level present unique patterns in modern human population: South Asians have an elevated count of population-unique archaic SNPs, and Europeans and East Asians have a higher degree of archaic SNP sharing, indicating that population demography and archaic admixture events had distinct effects in these populations. We confirm previous observations that East Asians have more Neanderthal ancestry than Europeans at an individual level, but surprisingly Europeans have more Neandertal ancestry at a population level. In comparing these results to our simulated models, we conclude that these patterns likely reflect a complex series of interactions between modern humans and archaic populations.

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“…(2016) reported a correlation between sample age and Neanderthal ancestry for five ancient human genomes (45,000–12,000 YBP) and caution that the correlation is strongest over an age range of 20,000–30,000 YBP and lost for more recent dates. However, this limited cline was likely due to the small cherry-picked dataset since other studies report no appreciable change in Neanderthal ancestry over the last 40,000 years ( Petr et al., 2019 ; Svensson et al., 2021 ). Moreover, most ancient genomes are younger than 10,000 YBP ( Figure S1 ), with many non-Europeans.…”

Section: Introductionmentioning

confidence: 86%