Max Planck Institute for Evolutionary Anthropology

With a standard set of primers directed toward conserved regions, we have used the polymerase chain reaction to amplify homologous segments of mtDNA from more than 100 animal species, including mammals, birds, amphibians, fishes, and some invertebrates. Amplification and direct sequencing were possible using unpurified mtDNA from nanogram samples of fresh specimens and microgram amounts of tissues preserved for months in alcohol or decades in the dry state. The bird and fish sequences evolve with the same strong bias toward transitions that holds for mammals. However, because the light strand of birds is deficient in thymine, thymine to cytosine transitions are less common than in other taxa. Amino acid replacement in a segment of the cytochrome b gene is faster in mammals and birds than in fishes and the pattern of replacements fits the structural hypothesis for cytochrome b. The unexpectedly wide taxonomic utility of these primers offers opportunities for phylogenetic and population research.

We propose that the crucial difference between human cognition and that of other species is the ability to participate with others in collaborative activities with shared goals and intentions: shared intentionality. Participation in such activities requires not only especially powerful forms of intention reading and cultural learning, but also a unique motivation to share psychological states with others and unique forms of cognitive representation for doing so. The result of participating in these activities is species-unique forms of cultural cognition and evolution, enabling everything from the creation and use of linguistic symbols to the construction of social norms and individual beliefs to the establishment of social institutions. In support of this proposal we argue and present evidence that great apes (and some children with autism) understand the basics of intentional action, but they still do not participate in activities involving joint intentions and attention (shared intentionality). Human children's skills of shared intentionality develop gradually during the first 14 months of life as two ontogenetic pathways intertwine: (1) the general ape line of understanding others as animate, goal-directed, and intentional agents; and (2) a species-unique motivation to share emotions, experience, and activities with other persons. The developmental outcome is children's ability to construct dialogic cognitive representations, which enable them to participate in earnest in the collectivity that is human cognition.

Neandertals, the closest evolutionary relatives of present-day humans, lived in large parts of Europe and western Asia before disappearing 30,000 years ago. We present a draft sequence of the Neandertal genome composed of more than 4 billion nucleotides from three individuals. Comparisons of the Neandertal genome to the genomes of five present-day humans from different parts of the world identify a number of genomic regions that may have been affected by positive selection in ancestral modern humans, including genes involved in metabolism and in cognitive and skeletal development. We show that Neandertals shared more genetic variants with present-day humans in Eurasia than with present-day humans in sub-Saharan Africa, suggesting that gene flow from Neandertals into the ancestors of non-Africans occurred before the divergence of Eurasian groups from each other.

The IntCal04 and Marine04 radiocarbon calibration curves have been updated from 12 cal kBP (cal kBP is here defined as thousands of calibrated years before AD 1950), and extended to 50 cal kBP, utilizing newly available data sets that meet the IntCal Working Group criteria for pristine corals and other carbonates and for quantification of uncertainty in both the 14 C and calendar timescales as established in 2002. No change was made to the curves from 0–12 cal kBP. The curves were constructed using a Markov chain Monte Carlo (MCMC) implementation of the random walk model used for IntCal04 and Marine04. The new curves were ratified at the 20th International Radiocarbon Conference in June 2009 and are available in the Supplemental Material at www.radiocarbon.org .

This work builds a bridge between evolutionary theory and cultural psychology. The author is one of very few people to have done systematic research on the cognitive capacities of both nonhuman primates and human children. This work identifies what the differences are, and suggests where they might have come from. Tomasello argues that the roots of the human capacity for symbol-based culture, and the kind of psychological development that takes p[lace within it, are based in a cluster of unique human cognitive capacities that emerge early in human ontogeny. These include capacities fort sharing attention with other persons, for understanding that others have intentions of their own; and for imitating, not just what someone else does, but what someone else has intended to do. In this discussions of language, symbolic representation, and cognitive-development, the author describes with authority and ingenuity the ratchet effect of the capacities working over evolutionary and historical time to create the kind of cultural artifacts and settings within which each new generation of children develops. He also proposes a novel hypothesis, based on process of social cognition and cultural evolution, about what makes the cognitive representations of humans different from those of other primates.

At around 1 year of age, human infants display a number of new behaviors that seem to indicate a newly emerging understanding of other persons as intentional beings whose attention to outside objects may be shared, followed into, and directed in various ways. These behaviors have mostly been studied separately. In the current study, we investigated the most important of these behaviors together as they emerged in a single group of 24 infants between 9 and 15 months of age. At each of seven monthly visits, we measured joint attentional engagement, gaze and point following, imitation of two different kinds of actions on objects, imperative and declarative gestures, and comprehension and production of language. We also measured several nonsocial-cognitive skills as a point of comparison. We report two studies. The focus of the first study was the initial emergence of infants' social-cognitive skills and how these skills are related to one another developmentally. We found a reliable pattern of emergence: Infants progressed from sharing to following to directing others' attention and behavior. The nonsocial skills did not emerge predictably in this developmental sequence. Furthermore, correlational analyses showed that the ages of emergence of all pairs of the social-cognitive skills or their components were inter-related. The focus of the second study was the social interaction of infants and their mothers, especially with regard to their skills of joint attentional engagement (including mothers' use of language to follow into or direct infants' attention) and how these skills related to infants' early communicative competence. Our measures of communicative competence included not only language production, as in previous studies, but also language comprehension and gesture production. It was found that two measures--the amount of time infants spent in joint engagement with their mothers and the degree to which mothers used language that followed into their infant's focus of attention--predicted infants' earliest skills of gestural and linguistic communication. Results of the two studies are discussed in terms of their implications for theories of social-cognitive development, for theories of language development, and for theories of the process by means of which human children become fully participating members of the cultural activities and processes into which they are born.

<strong>Dryer, Matthew S. &amp; Haspelmath, Martin (eds.) 2013. The World Atlas of Language Structures Online. Leipzig: Max Planck Institute for Evolutionary Anthropology. (Available online at https://wals.info)</strong>

SUMMARY: TREE-PUZZLE is a program package for quartet-based maximum-likelihood phylogenetic analysis (formerly PUZZLE, Strimmer and von Haeseler, Mol. Biol. Evol., 13, 964-969, 1996) that provides methods for reconstruction, comparison, and testing of trees and models on DNA as well as protein sequences. To reduce waiting time for larger datasets the tree reconstruction part of the software has been parallelized using message passing that runs on clusters of workstations as well as parallel computers. AVAILABILITY: http://www.tree-puzzle.de. The program is written in ANSI C. TREE-PUZZLE can be run on UNIX, Windows and Mac systems, including Mac OS X. To run the parallel version of PUZZLE, a Message Passing Interface (MPI) library has to be installed on the system. Free MPI implementations are available on the Web (cf. http://www.lam-mpi.org/mpi/implementations/).

The large amount of DNA sequence data generated by high-throughput sequencing technologies often allows multiple samples to be sequenced in parallel on a single sequencing run. This is particularly true if subsets of the genome are studied rather than complete genomes. In recent years, target capture from sequencing libraries has largely replaced polymerase chain reaction (PCR) as the preferred method of target enrichment. Parallelizing target capture and sequencing for multiple samples requires the incorporation of sample-specific barcodes into sequencing libraries, which is necessary to trace back the sample source of each sequence. This protocol describes a fast and reliable method for the preparation of barcoded ("indexed") sequencing libraries for Illumina's Genome Analyzer platform. The protocol avoids expensive commercial library preparation kits and can be performed in a 96-well plate setup using multi-channel pipettes, requiring not more than two or three days of lab work. Libraries can be prepared from any type of double-stranded DNA, even if present in subnanogram quantity.

We present a DNA library preparation method that has allowed us to reconstruct a high-coverage (30×) genome sequence of a Denisovan, an extinct relative of Neandertals. The quality of this genome allows a direct estimation of Denisovan heterozygosity indicating that genetic diversity in these archaic hominins was extremely low. It also allows tentative dating of the specimen on the basis of "missing evolution" in its genome, detailed measurements of Denisovan and Neandertal admixture into present-day human populations, and the generation of a near-complete catalog of genetic changes that swept to high frequency in modern humans since their divergence from Denisovans.

Using DNA extracted from a finger bone found in Denisova Cave in southern Siberia, we have sequenced the genome of an archaic hominin to about 1.9-fold coverage. This individual is from a group that shares a common origin with Neanderthals. This population was not involved in the putative gene flow from Neanderthals into Eurasians; however, the data suggest that it contributed 4–6% of its genetic material to the genomes of present-day Melanesians. We designate this hominin population ‘Denisovans’ and suggest that it may have been widespread in Asia during the Late Pleistocene epoch. A tooth found in Denisova Cave carries a mitochondrial genome highly similar to that of the finger bone. This tooth shares no derived morphological features with Neanderthals or modern humans, further indicating that Denisovans have an evolutionary history distinct from Neanderthals and modern humans. Anatomically modern humans were in Africa from some point after 200,000 years ago and reached Eurasia rather later. Meanwhile, archaic hominins — including the Neanderthals — had been in Eurasia from at least 230,000 years ago and disappear from the fossil record only about 30,000 years ago. The genome of a female archaic hominin from Denisova Cave in southern Siberia has now been sequenced from DNA extracted from a finger bone. The group to which this 'Denisovan' individual belonged shares a common origin with Neanderthals and, although it was not involved in the putative gene flow from Neanderthals into Eurasians, it contributed 4–6% of the genomes of present-day Melanesians. In addition, the morphology of a tooth with a mitochondrial genome very similar to that of the finger bone suggests that these hominins are evolutionarily distinct from both Neanderthals and modern humans. Using DNA from a finger bone, the genome of an archaic hominin from southern Siberia has been sequenced to about 1.9-fold coverage. The group to which this individual belonged shares a common origin with Neanderthals, and although it was not involved in the putative gene flow from Neanderthals into Eurasians, it contributed 4–6% of its genetic material to the genomes of present-day Melanesians. A tooth whose mitochondrial genome is very similar to that of the finger bone further suggests that these hominins are evolutionarily distinct from Neanderthals and modern humans.

Statistical Rethinking: A Bayesian Course with Examples in R and Stan builds your knowledge of and confidence in making inferences from data. Reflecting the need for scripting in today's model-based statistics, the book pushes you to perform step-by-step calculations that are usually automated. This unique computational approach ensures that you understand enough of the details to make reasonable choices and interpretations in your own modeling work. The text presents causal inference and generalized linear multilevel models from a simple Bayesian perspective that builds on information theory and maximum entropy. The core material ranges from the basics of regression to advanced multilevel models. It also presents measurement error, missing data, and Gaussian process models for spatial and phylogenetic confounding. The second edition emphasizes the directed acyclic graph (DAG) approach to causal inference, integrating DAGs into many examples. The new edition also contains new material on the design of prior distributions, splines, ordered categorical predictors, social relations models, cross-validation, importance sampling, instrumental variables, and Hamiltonian Monte Carlo. It ends with an entirely new chapter that goes beyond generalized linear modeling, showing how domain-specific scientific models can be built into statistical analyses. Features Integrates working code into the main text Illustrates concepts through worked data analysis examples Emphasizes understanding assumptions and how assumptions are reflected in code Offers more detailed explanations of the mathematics in optional sections Presents examples of using the dagitty R package to analyze causal graphs Provides the rethinking R package on the author's website and on GitHub

Tool-making or culture, language or religious belief: ever since Darwin, thinkers have struggled to identify what fundamentally differentiates human beings from other animals. In this much-anticipated book, Michael Tomasello weaves his twenty years of comparative studies of humans and great apes into a compelling argument that cooperative social interaction is the key to our cognitive uniqueness. Once our ancestors learned to put their heads together with others to pursue goals, humankind was on an evolutionary path all its own. Tomasello argues that our prehuman ancestors, like today's great apes, were social beings who could solve problems by thinking. But they were almost entirely competitive, aiming only at their individual goals. As ecological changes forced them into more cooperative living arrangements, early humans had to coordinate their actions and communicate their thoughts with collaborative partners. Tomasello's shared intentionality hypothesis captures how these more socially complex forms of life led to more conceptually complex forms of thinking. In order to survive, humans had to learn to see the world from multiple social perspectives, to draw socially recursive inferences, and to monitor their own thinking via the normative standards of the group. Even language and culture arose from the preexisting need to work together. What differentiates us most from other great apes, Tomasello proposes, are the new forms of thinking engendered by our new forms of collaborative and communicative interaction. A Natural History of Human Thinking is the most detailed scientific analysis to date of the connection between human sociality and cognition.

Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioural modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans. Deep whole-genome sequencing of 300 individuals from 142 diverse populations provides insights into key population genetic parameters, shows that all modern human ancestry outside of Africa including in Australasians is consistent with descending from a single founding population, and suggests a higher rate of accumulation of mutations in non-Africans compared to Africans since divergence. Three international collaborations reporting in this issue of Nature describe 787 high-quality genomes from individuals from geographically diverse populations. David Reich and colleagues analysed whole-genome sequences of 300 individuals from 142 populations. Their findings include an accelerated estimated rate of accumulation of mutations in non-Africans compared to Africans since divergence, and that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans but from the same source as that of other non-Africans. Eske Willerlsev and colleagues obtained whole-genome data for 83 Aboriginal Australians and 25 Papuans from the New Guinea Highlands. They estimate that Aboriginal Australians and Papuans diverged from Eurasian populations 51,000–72,000 years ago, following a single out-of-Africa dispersal. Luca Pagani et al. report on a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations. Their analyses support the model by which all non-African populations derive most of their genetic ancestry from a single recent migration out of Africa, although a Papuan contribution suggests a trace of an earlier human expansion.

Human beings routinely help others to achieve their goals, even when the helper receives no immediate benefit and the person helped is a stranger. Such altruistic behaviors (toward non-kin) are extremely rare evolutionarily, with some theorists even proposing that they are uniquely human. Here we show that human children as young as 18 months of age (prelinguistic or just-linguistic) quite readily help others to achieve their goals in a variety of different situations. This requires both an understanding of others' goals and an altruistic motivation to help. In addition, we demonstrate similar though less robust skills and motivations in three young chimpanzees.

Humans have many cognitive skills not possessed by their nearest primate relatives. The cultural intelligence hypothesis argues that this is mainly due to a species-specific set of social-cognitive skills, emerging early in ontogeny, for participating and exchanging knowledge in cultural groups. We tested this hypothesis by giving a comprehensive battery of cognitive tests to large numbers of two of humans' closest primate relatives, chimpanzees and orangutans, as well as to 2.5-year-old human children before literacy and schooling. Supporting the cultural intelligence hypothesis and contradicting the hypothesis that humans simply have more "general intelligence," we found that the children and chimpanzees had very similar cognitive skills for dealing with the physical world but that the children had more sophisticated cognitive skills than either of the ape species for dealing with the social world.

Although an inverse relationship is expected in ancient DNA samples between the number of surviving DNA fragments and their length, ancient DNA sequencing libraries are strikingly deficient in molecules shorter than 40 bp. We find that a loss of short molecules can occur during DNA extraction and present an improved silica-based extraction protocol that enables their efficient retrieval. In combination with single-stranded DNA library preparation, this method enabled us to reconstruct the mitochondrial genome sequence from a Middle Pleistocene cave bear (Ursus deningeri) bone excavated at Sima de los Huesos in the Sierra de Atapuerca, Spain. Phylogenetic reconstructions indicate that the U. deningeri sequence forms an early diverging sister lineage to all Western European Late Pleistocene cave bears. Our results prove that authentic ancient DNA can be preserved for hundreds of thousand years outside of permafrost. Moreover, the techniques presented enable the retrieval of phylogenetically informative sequences from samples in which virtually all DNA is diminished to fragments shorter than 50 bp.

The advent of genome-wide dense variation data provides an opportunity to investigate ancestry in unprecedented detail, but presents new statistical challenges. We propose a novel inference framework that aims to efficiently capture information on population structure provided by patterns of haplotype similarity. Each individual in a sample is considered in turn as a recipient, whose chromosomes are reconstructed using chunks of DNA donated by the other individuals. Results of this "chromosome painting" can be summarized as a "coancestry matrix," which directly reveals key information about ancestral relationships among individuals. If markers are viewed as independent, we show that this matrix almost completely captures the information used by both standard Principal Components Analysis (PCA) and model-based approaches such as STRUCTURE in a unified manner. Furthermore, when markers are in linkage disequilibrium, the matrix combines information across successive markers to increase the ability to discern fine-scale population structure using PCA. In parallel, we have developed an efficient model-based approach to identify discrete populations using this matrix, which offers advantages over PCA in terms of interpretability and over existing clustering algorithms in terms of speed, number of separable populations, and sensitivity to subtle population structure. We analyse Human Genome Diversity Panel data for 938 individuals and 641,000 markers, and we identify 226 populations reflecting differences on continental, regional, local, and family scales. We present multiple lines of evidence that, while many methods capture similar information among strongly differentiated groups, more subtle population structure in human populations is consistently present at a much finer level than currently available geographic labels and is only captured by the haplotype-based approach. The software used for this article, ChromoPainter and fineSTRUCTURE, is available from http://www.paintmychromosomes.com/.

Human gut microbiota directly influences health and provides an extra means of adaptive potential to different lifestyles. To explore variation in gut microbiota and to understand how these bacteria may have co-evolved with humans, here we investigate the phylogenetic diversity and metabolite production of the gut microbiota from a community of human hunter-gatherers, the Hadza of Tanzania. We show that the Hadza have higher levels of microbial richness and biodiversity than Italian urban controls. Further comparisons with two rural farming African groups illustrate other features unique to Hadza that can be linked to a foraging lifestyle. These include absence of Bifidobacterium and differences in microbial composition between the sexes that probably reflect sexual division of labour. Furthermore, enrichment in Prevotella, Treponema and unclassified Bacteroidetes, as well as a peculiar arrangement of Clostridiales taxa, may enhance the Hadza’s ability to digest and extract valuable nutrition from fibrous plant foods. Gut microbes influence our health and may contribute to human adaptation to different lifestyles. Here, the authors describe the gut microbiome of a community of hunter-gatherers and identify unique features that could be linked to a foraging lifestyle.

About 20 years ago, DNA sequences were separately described from the quagga (a type of zebra) and an ancient Egyptian individual. What made these DNA sequences exceptional was that they were derived from 140- and 2400-year-old specimens. However, ancient DNA research, defined broadly as the retrieval of DNA sequences from museum specimens, archaeological finds, fossil remains, and other unusual sources of DNA, only really became feasible with the advent of techniques for the enzymatic amplification of specific DNA sequences. Today, reports of analyses of specimens hundreds, thousands, and even millions of years old are almost commonplace. But can all these results be believed? In this paper, we critically assess the state of ancient DNA research. In particular, we discuss the precautions and criteria necessary to ascertain to the greatest extent possible that results represent authentic ancient DNA sequences. We also highlight some significant results and areas of promising future research.