Ancient genomes reveal social and genetic structure of Late Neolithic Switzerland

Furtwängler, Anja; Rohrlach, Adam B; Lamnidis, Thiseas Christos; Papac, Luka; Neumann, Gunnar U.; Siebke, Inga; Reiter, Ella; Steuri, Noah; Hald, Jürgen; Denaire, Anthony; Schnitzler, Bernadette; Wahl, Joachim; Ramstein, Marianne; Schuenemann, Verena J.; Stockhammer, Philipp W.; Hafner, Albert; Lösch, Sandra; Haak, Wolfgang; Schiffels, Stephan; Krause, Johannes

doi:10.1038/s41467-020-15560-x

Cited by 62 publications

(67 citation statements)

References 52 publications

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“…Haak et al (2015) also observed that the T allele increased in frequency only after the Yamnaya Steppe ancestry became ubiquitous in Central and Western Europe. Consistent with these findings, it was recently identified that the T allele is possessed by only one CWC individual from Sweden (Malmström et al, 2019), only one Final Neolithic individual from Switzerland (Furtwängler et al, 2020), and none of 16 CWC individuals from Poland (Witas et al, 2012;Linderholm et al, 2020), to mention a few. Using 230 ancient Eurasians, Mathieson et al (2015) found that the earliest appearance of the T allele is in a Central European Bell Beaker sample dated to between 2450 and 2140 BC, and the selective sweep dated to the last 4000 years (Burger et al, 2007;Gamba et al, 2014;Haber et al, 2016 for a review).…”

Section: Discussionmentioning

confidence: 67%

Population genomics on the origin of lactase persistence in Europe and South Asia

Satta

Takahata

2020

Preprint

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AbstractThe C to T mutation at rs4988235 located upstream of the lactase (LCT) gene is the primary determinant for lactase persistence (LP) that is prevalent among Europeans and South Asians. Here, we review evolutionary studies of this mutation based on ancient and present-day human genomes with the following concluding remarks: the mutation arose in the Pontic Steppe somewhere between 23,000 and 5000 years ago, emigrated into Europe and South Asia in the Bronze Age via the expansion of the Steppe ancestry, and experienced local hard sweeps with their delayed onsets occurring in the last 3600 years. We also argue that the G to A mutation at rs182549 arose earlier than 23,000 years ago, the intermediate CA haplotype ancestral to the LP-related TA haplotype is still represented by samples from Tuscans, admixed Americans and South Asians, and the great majority of G to A mutated descendants have hitchhiked since the C to T mutation was favored by local selection.

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Section: Discussionmentioning

confidence: 67%

Population genomics on the origin of lactase persistence in Europe and South Asia

Satta

Takahata

2020

Preprint

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“…ros Damgaard et al, 2018;Mittnik et al, 2018;Fu et al, 2016;Schiffels et al, 2016;Narasimhan et al, 2019;Lipson et al, 2017;Olalde et al, 2018;Brace et al, 2019;González-Fortes et al, 2017;Furtwängler et al, 2020;Fernandes et al, 2018;Antonio et al, 2019;Sikora et al, 2017;Krzewińska et al, 2018;Margaryan et al, 2020;Mathieson et al, 2015;Schroeder et al, 2019), we compiled metric data for 167 individuals (Caffell & Holst, 2012;Tebelškis & Jankauskas, 2002;Alpaslan-Roodenberg, 2001;Dunwell, 2007;Andrews & Thompson, 2016;Köhler et al, 2017;Fokkens et al, 2017;Boroneant, 2010;Pardini, 1977;Frei et al, 2019;Kjellström, 2005;Cairns, 2015;Price et al, 2016;Szczepanek, 2013;Alciati, 1967;Massy, 2018;Malmström et al, 2019;Berthold et al, 2008;Kitti, 2008;Saag et al, 2020;Auerbach & Ruff, 2004;Auerbach, 2004;Schiffels et al, 2016;Rosenstock et al, 2019). We removed 28 sam...…”

Section: Data Collectionunclassified

Predicting skeletal stature using ancient DNA

Cox

Moots

Stock

et al. 2021

Preprint

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Objectives: Ancient DNA provides an opportunity to separate the genetic and environmental bases of complex traits by allowing direct estimation of genetic values in ancient individuals. Here, we test whether genetic scores for height in ancient individuals are predictive of their actual height, as inferred from skeletal remains. We estimate the contributions of genetic and environmental variables to observed phenotypic variation as a first step towards quantifying individual sources of morphological variation. Materials and Methods: We collected stature estimates and femur lengths from West Eurasian skeletal remains with published genome-wide ancient DNA data (n=167, dating from 33,000-850 BP). We also recorded genetic sex, genetic ancestry, date and paleoclimate data for each individual, and δ13C and δ15N stable isotope values where available (n=67). Results: A polygenic score (PRS) for height predicts 6.8% of the variance in femur length in our data (n=117, SD=0.0068%, p<0.001), controlling for sex, ancestry, and date. This is consistent with the predictive power of height PRS in present-day populations and the low coverage of ancient samples. Comparatively, sex explains about 15% of the variance in femur length in our sample. Environmental effects also likely play a role in variation, independent of genetics, though with considerable uncertainty (longitude: R2=0.0317, SD=0.009, p=0.019). Discussion: Polygenic scores explain a small but significant proportion of the variance in height in ancient individuals, though not enough to make useful predictions of individual phenotypes. However, environmental variables also contribute to phenotypic outcomes and understanding their interaction with direct genetic predictions will provide a framework with which to model how plasticity and genetic changes ultimately combine to drive adaptation and evolution.

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“…In future, aDNA results might provide information about pathogens, which could have caused the death of some individuals. A further factor to consider while searching for the causes of death is that the dolmen was used for several generations, based on radiocarbon dating (Steuri et al, submitted) and aDNA analysis (Furtwängler et al, in preparation).…”

Section: Discussionmentioning

confidence: 99%

“…The preservation and representation of the skeletal remains were not further evaluated due to overall fragmentation and taphonomic alterations. For further biochemical analyses, the right partes petrosae ( n = 23) were sampled for aDNA (Furtwängler et al, , in preparation), stable isotope analyses, and radiocarbon dating (Siebke et al, in preparation) to ensure a congruent dataset and to overcome the limitations of commingled remains.…”

Section: Methodsmentioning

confidence: 99%

Who lived on the Swiss Plateau around 3300 BCE? Analyses of commingled human skeletal remains from the dolmen of Oberbipp

Siebke

Steuri

Furtwängler

et al. 2019

Intl J of Osteoarchaeology

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Nowadays, the discovery and excavation of an almost intact Late Neolithic dolmen is rare, as those monuments were often visible in the landscape and have been investigated or destroyed in earlier times; therefore, information about the buried individuals has often been lost. The excavation of the dolmen, a stone grave chamber, from Oberbipp, Switzerland, in 2012 provided a unique opportunity to study human skeletal remains from a Late Neolithic collective burial (3350–2650 BCE). Over 2,000 fragmented and commingled skeletal elements were recovered and form the basis of this morphological study. Established morphological methods were employed to evaluate the minimum number of individuals, age at death, sex, stature, and the presence of pathological alterations and trauma. Sex was determined additionally by aDNA analysis. Elements of the entire human skeleton were recovered indicating a primary burial site. At least 42 individuals (femora) from all age classes (57%:43% adults to subadults) were buried in the dolmen. Based on aDNA analysis (n = 23, partes petrosae) slightly more males than females (44%:35% males to females, 22% indeterminate) were recovered. Stature was estimated from complete femora (n = 3) indicating an average body height between 154–157 cm. Pathological alterations and trauma could be observed on several bones, however, without indications for major interpersonal violence. The caries intensity of Swiss samples seems to be higher compared with other Neolithic European sites. A possible separation of burial areas for males and females based on the recovery of skeletal elements within the dolmen along with aDNA results is postulated. In addition, this article contributes to a better understanding of Late Neolithic populations in Central Europe.

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Ancient genomes reveal social and genetic structure of Late Neolithic Switzerland

Cited by 62 publications

References 52 publications

Population genomics on the origin of lactase persistence in Europe and South Asia

Population genomics on the origin of lactase persistence in Europe and South Asia

Predicting skeletal stature using ancient DNA

Who lived on the Swiss Plateau around 3300 BCE? Analyses of commingled human skeletal remains from the dolmen of Oberbipp

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