Human Origins in Southern African Palaeo-Wetlands? Strong Claims from Weak Evidence

Journal of Archaeological Science 130 (2021) 105374 Contents lists available at ScienceDirect Journal of Archaeological Science journal homepage: http://www.elsevier.com/locate/jas Human origins in Southern African palaeo-wetlands? Strong claims from weak evidence Carina M. Schlebusch a,b,c,*,1, Liisa Loog d,1, Huw S. Groucutt e,f,g, Turi King h, Adam Rutherford i, Chiara Barbieri j, Guido Barbujani k, Lounes Chikhi l,m, Chris Stringer n, Mattias Jakobsson a,b,c, Anders Eriksson o,p, Andrea Manica q, Sarah A. Tishkoff r, Eleanor ML. Scerri s,t,g, Aylwyn Scally d, Chris Brierley u, Mark G. Thomas i,1 a Human Evolution, Department of Organismal Biology, Uppsala University, Sweden b Palaeo-Research Institute, University of Johannesburg, South Africa c SciLifeLab Uppsala, Sweden d Department of Genetics, University of Cambridge, UK e Extreme Events Research Group, Max Planck Institutes for Chemical Ecology, The Science of Human History, and Biogeochemistry, Jena, Germany f Department of Archaeology, Max Planck Institute for the Science of Human History, Jena, Germany g Institute of Prehistoric Archaeology, University of Cologne, Cologne, Germany h Department of Genetics and Genome Biology & School of Archaeology and Ancient History, University of Leicester, UK i Department of Genetics, Evolution and Environment, University College London, UK j Department of Evolutionary Biology and Environmental Studies, University of Zurich, Zurich, Switzerland k Department of Life Sciences and Biotechnology, University of Ferrara, Italy l Evolution & Diversit´e Biologique lab, CNRS, IRD, UPS, University of Toulouse 3, Toulouse, France m Instituto Gulbenkian de Ci^encia, Oeiras, Portugal n Centre for Human Evolution Research (CHER), Department of Earth Sciences, Natural History Museum, London, UK o Center for Genomics, Evolution and Medicine (cGEM), University of Tartu, Estonia p Department of Medical and Molecular Genetics, King’s College London, UK q Department of Zoology, University of Cambridge, UK r Departments of Genetics and Biology, University of Pennsylvania, Philadelphia, PA, USA s Pan-African Evolution Research Group, Max Planck Institute for the Science of Human History, Jena, Germany t Department of Classics and Archaeology, University of Malta, Msida, Malta u Department of Geography, University College London, UK ARTICLE INFO ABSTRACT Keywords Attempts to identify a ‘homeland’ for our species from genetic data are widespread in the academic literature. Human origins However, even when putting aside the question of whether a ‘homeland’ is a useful concept, there are a number Mitochondrial DNA of inferential pitfalls in attempting to identify the geographic origin of a species from contemporary patterns of Gene trees genetic variation. These include making strong claims from weakly informative data, treating genetic lineages as Demographic inference representative of populations, assuming a high degree of regional population continuity over hundreds of Africa thousands of years, and using circumstantial observations as corroborating evidence without considering alternative hypotheses on an equal footing, or formally evaluating any hypothesis. In this commentary we review the recent publication that claims to pinpoint the origins of ‘modern humans’ to a very specific region in Africa (Chan et al., 2019), demonstrate how it fell into these inferential pitfalls, and discuss how this can be avoided. 1. Introduction southern African palaeo-wetland and first migrations” reported 198 novel whole mitochondrial DNA (mtDNA) genomes and inferred that A paper published by Chan and colleagues titled “Human origins in a ‘anatomically modern humans’ originated in the * Corresponding author. Human Evolution, Department of Organismal Biology, Uppsala University, Sweden. E-mail addresses: [email protected], [email protected] (C.M. Schlebusch). 1 Equal contribution. https://doi.org/10.1016/j.jas.2021.105374 Received 18 September 2020; Received in revised form 27 January 2021; Accepted 23 February 2021 0305-4403/© 2021 Published by Elsevier Ltd. C.M. Schlebusch et al. Journal of Archaeological Science 130 (2021) 105374 Makgadikgadi–Okavango palaeo-wetland of southern Africa around 200 Instead, multiple distinct lineages are usually shared across many thousand years ago (Chan et al., 2019). This claim relies on weakly different populations, and that degree of sharing is an outcome of informative data. In addition to flawed logic and questionable assump random processes that are shaped by population demographic history. tions, the authors surprisingly disregard recent data and debate on There is also little reason to assume that branch split dates in the mtDNA human origins in Africa (Scerri et al., 2018; Scerri et al., 2019; Henn tree correspond directly to population-level splitting events. Instead, et al., 2018; Schlebusch and Jakobsson, 2018). As a result, the emphatic lineage split dates will usually predate a population split, often by a and far-reaching conclusions of the paper are unjustified. substantial margin which is itself shaped by the population size around the time of the split, and subsequent migration rates. 1.1. Weakly informative data Chan and colleagues also applied Bayesian Skyline analysis to their arbitrarily selected lineages to infer ancestral population size change Chan et al. (2019) sampled 198 Southern African individuals, through time. This imposes a sampling bias that breaks a key assumption sequenced the full mtDNA genome and merged their data with ~1000 of Bayesian Skyline analysis (i.e. the data are from a lineage sample other published mtDNA genomes, mostly from southern Africa. They rather than from the model-assumed unstructured population sample), then proceeded by inferring the phylogenetic structure of the mtDNA invalidating their reconstructions of population sizes through time genealogy, estimating the ages of various branches on that tree (with a (Heller et al., 2013). Chan et al. justify their use of this approach by particular focus on branches found in southern Africa), and considering citing two previous publications (Gandini et al., 2016; Soares et al., their modern geographic distribution. Mitochondrial DNA can be useful 2012). However, the latter of these publications (Gandini et al., 2016) for addressing certain population history questions (e.g. Karmin et al., simply cites the earlier one (Soares et al., 2012) on this issue, both 2015), and it is good to focus on under-sampled populations, but the publications merely state that Bayesian Skyline analysis “might never phylogenetic tree at any single non-recombining locus (such as mtDNA) theless signal demographic processes” and neither provide any theo is one outcome of a strongly stochastic genealogical process that is only retical validation of this claim. Consequently, Chan et al. simply repeat weakly constrained by population history. In practice, this means it this error without credible justification. contains useful but limited information about that population history. In particular, information content reduces rapidly as we look further back 1.3. Populations are not static in time, no matter how many present-day samples are included. Near the time when all mtDNA lineages coalesce to their most recent common A key issue with inferring geographic origins from contemporary ancestor – the part of the tree where Chan and colleagues focus their genetic data is the extent to which population history is a ‘palimpsest’ of analysis - mtDNA lineages represent only a small fraction of the thou overlaid demographic processes (migration, population fission, fusion sands of ancestors that present-day humans have at that time, and and size change, etc.) throughout the intervening period. Chan and therefore provides little or no information to distinguish between colleagues’ claims rest on the implicit assumption that the locations of plausible models of human population history. If we consider another present-day individuals represent those of past populations. This well-resolved single locus phylogenetic tree - that of the Y chromosome - assumption of static populations over a period of more than 100,000 a different phylogeographic structure is apparent (Mendez et al., 2013). years is problematic in the light of well described (by both archaeo Modern population genetic approaches take advantage of hundreds logical and ancient DNA studies) long and short range migrations, of thousands of independent gene trees (obtained from whole-genome population contractions, expansions and replacements - not only in sequencing and genome-wide SNP genotyping), gaining several orders Eurasia, the Americas and Oceania, but also in Africa (e.g. Schlebusch of magnitude in statistical power (Kelleher et al., 2019). While each tree et al., 2017; Pickrell et al., 2012; Skoglund et al., 2017; Bergstrom¨ et al., is only weakly constrained by demographic history, by combining many 2020). The assumption of static populations would need to be supported trees with probabilistic approaches it is possible to quantify the likeli by archaeological, fossil, and ideally ancient DNA evidence; to date no hood of different demographic scenarios. However, in the absence of such evidence has been presented for such a deep time period anywhere informative ancient DNA data from the periods in question, precise in in Africa. On the contrary, studies of raw material transport demonstrate ferences on the location of origin of Homo sapiens still require strong and high levels of

Load more