Recent Origin and Cultural Reversion of a Hunter–Gatherer Group

Contemporary hunter–gatherer groups are often thought to serve as models of an ancient lifestyle that was typical of human populations prior to the development of agriculture. Patterns of genetic variation in hunter–gatherer groups such as the !Kung and African Pygmies are consistent with this view, as they exhibit low genetic diversity coupled with high frequencies of divergent mtDNA types not found in surrounding agricultural groups, suggesting long-term isolation and small population sizes. We report here genetic evidence concerning the origins of the Mlabri, an enigmatic hunter–gatherer group from northern Thailand. The Mlabri have no mtDNA diversity, and the genetic diversity at Y-chromosome and autosomal loci are also extraordinarily reduced in the Mlabri. Genetic, linguistic, and cultural data all suggest that the Mlabri were recently founded, 500–800 y ago, from a very small number of individuals. Moreover, the Mlabri appear to have originated from an agricultural group and then adopted a hunting–gathering subsistence mode. This example of cultural reversion from agriculture to a hunting–gathering lifestyle indicates that contemporary hunter–gatherer groups do not necessarily reflect a pre-agricultural lifestyle.     

Matrilineal Fertility Inheritance Detected in Hunter–Gatherer Populations Using the Imbalance of Gene Genealogies

Fertility inheritance, a phenomenon in which an individual's number of offspring is positively correlated with his or her number of siblings, is a cultural process that can have a strong impact on genetic diversity. Until now, fertility inheritance has been detected primarily using genealogical databases. In this study, we develop a new method to infer fertility inheritance from genetic data in human populations. The method is based on the reconstruction of the gene genealogy of a sample of sequences from a given population and on the computation of the degree of imbalance in this genealogy. We show indeed that this level of imbalance increases with the level of fertility inheritance, and that other phenomena such as hidden population structure are unlikely to generate a signal of imbalance in the genealogy that would be confounded with fertility inheritance. By applying our method to mtDNA samples from 37 human populations, we show that matrilineal fertility inheritance is more frequent in hunter–gatherer populations than in food-producer populations. One possible explanation for this result is that in hunter–gatherer populations, individuals belonging to large kin networks may benefit from stronger social support and may be more likely to have a large number of offspring.     

Inferring the Demographic History of African Farmers and Pygmy Hunter–Gatherers Using a Multilocus Resequencing Data Set

The transition from hunting and gathering to farming involved a major cultural innovation that has spread rapidly over most of the globe in the last ten millennia. In sub-Saharan Africa, hunter–gatherers have begun to shift toward an agriculture-based lifestyle over the last 5,000 years. Only a few populations still base their mode of subsistence on hunting and gathering. The Pygmies are considered to be the largest group of mobile hunter–gatherers of Africa. They dwell in equatorial rainforests and are characterized by their short mean stature. However, little is known about the chronology of the demographic events—size changes, population splits, and gene flow—ultimately giving rise to contemporary Pygmy (Western and Eastern) groups and neighboring agricultural populations. We studied the branching history of Pygmy hunter–gatherers and agricultural populations from Africa and estimated separation times and gene flow between these populations. We resequenced 24 independent noncoding regions across the genome, corresponding to a total of ~33 kb per individual, in 236 samples from seven Pygmy and five agricultural populations dispersed over the African continent. We used simulation-based inference to identify the historical model best fitting our data. The model identified included the early divergence of the ancestors of Pygmy hunter–gatherers and farming populations ~60,000 years ago, followed by a split of the Pygmies' ancestors into the Western and Eastern Pygmy groups ~20,000 years ago. Our findings increase knowledge of the history of the peopling of the African continent in a region lacking archaeological data. An appreciation of the demographic and adaptive history of African populations with different modes of subsistence should improve our understanding of the influence of human lifestyles on genome diversity.     

Ancient mitochondrial DNA from the northern fringe of the Neolithic farming expansion in Europe sheds light on the dispersion process

The European Neolithization process started around 12 000 years ago in the Near East. The introduction of agriculture spread north and west throughout Europe and a key question has been if this was brought about by migrating individuals, by an exchange of ideas or a by a mixture of these. The earliest farming evidence in Scandinavia is found within the Funnel Beaker Culture complex (Trichterbecherkultur, TRB) which represents the northernmost extension of Neolithic farmers in Europe. The TRB coexisted for almost a millennium with hunter–gatherers of the Pitted Ware Cultural complex (PWC). If migration was a substantial part of the Neolithization, even the northerly TRB community would display a closer genetic affinity to other farmer populations than to hunter–gatherer populations. We deep-sequenced the mitochondrial hypervariable region 1 from seven farmers (six TRB and one Battle Axe complex, BAC) and 13 hunter–gatherers (PWC) and authenticated the sequences using postmortem DNA damage patterns. A comparison with 124 previously published sequences from prehistoric Europe shows that the TRB individuals share a close affinity to Central European farmer populations, and that they are distinct from hunter–gatherer groups, including the geographically close and partially contemporary PWC that show a close affinity to the European Mesolithic hunter–gatherers.     

Sex differences in search and gathering skills

The hunter–gatherer theory of sex differences states that female cognition has evolutionarily adapted to gathering and male cognition to hunting. Existing studies corroborate that men excel in hunting-related skills, but there is only indirect support for women excelling in gathering tasks. This study tested if women would outperform men in laboratory-based computer tests of search and gathering skills. In Experiment 1, men found target objects faster and made fewer mistakes than women in a classic visual search study. In Experiment 2, participants gathered items (fruits or letters presented on screen), and again, men performed significantly better. In Experiment 3, participants' incidental learning of object locations in a search experiment was studied, but no statistically significant sex differences were observed. These findings found the opposite of what was expected based on the hypothesis that female cognition has adapted to gathering. Alternative interpretations of the role of object location memory, female gathering roles and the division of labor between the sexes are discussed.     

Why are population growth rate estimates of past and present hunter–gatherers so different?

Hunter–gatherer population growth rate estimates extracted from archaeological proxies and ethnographic data show remarkable differences, as archaeological estimates are orders of magnitude smaller than ethnographic and historical estimates. This could imply that prehistoric hunter–gatherers were demographically different from recent hunter–gatherers. However, we show that the resolution of archaeological human population proxies is not sufficiently high to detect actual population dynamics and growth rates that can be observed in the historical and ethnographic data. We argue that archaeological and ethnographic population growth rates measure different things; therefore, they are not directly comparable. While ethnographic growth rate estimates of hunter–gatherer populations are directly linked to underlying demographic parameters, archaeological estimates track changes in the long-term mean population size, which reflects changes in the environmental productivity that provide the ultimate constraint for forager population growth. We further argue that because of this constraining effect, hunter–gatherer populations cannot exhibit long-term growth independently of increasing environmental productivity.This article is part of the theme issue ‘Cross-disciplinary approaches to prehistoric demography’.     

Hunter–gatherers have less famine than agriculturalists

The idea that hunter–gatherer societies experience more frequent famine than societies with other modes of subsistence is pervasive in the literature on human evolution. This idea underpins, for example, the ‘thrifty genotype hypothesis’. This hypothesis proposes that our hunter–gatherer ancestors were adapted to frequent famines, and that these once adaptive ‘thrifty genotypes’ are now responsible for the current obesity epidemic. The suggestion that hunter–gatherers are more prone to famine also underlies the widespread assumption that these societies live in marginal habitats. Despite the ubiquity of references to ‘feast and famine’ in the literature describing our hunter–gatherer ancestors, it has rarely been tested whether hunter–gatherers suffer from more famine than other societies. Here, we analyse famine frequency and severity in a large cross-cultural database, in order to explore relationships between subsistence and famine risk. This is the first study to report that, if we control for habitat quality, hunter–gatherers actually had significantly less—not more—famine than other subsistence modes. This finding challenges some of the assumptions underlying for models of the evolution of the human diet, as well as our understanding of the recent epidemic of obesity and type 2 diabetes mellitus.     

Limited dispersal in mobile hunter–gatherer Baka Pygmies

Hunter–gatherer Pygmies from Central Africa are described as being extremely mobile. Using neutral genetic markers and population genetics theory, we explored the dispersal behaviour of the Baka Pygmies from Cameroon, one of the largest Pygmy populations in Central Africa. We found a strong correlation between genetic and geographical distances: a pattern of isolation by distance arising from limited parent–offspring dispersal. Our study suggests that mobile hunter–gatherers do not necessarily disperse over wide geographical areas.     

Reticulate evolution and the origins of ribosomal internal transcribed spacer diversity in apomictic Meloidogyne

Among root knot nematodes of the genus Meloidogyne, the polyploid obligate mitotic parthenogens M. arenaria, M. javanica, and M. incognita are widespread and common agricultural pests. Although these named forms are distinguishable by closely related mitochondrial DNA (mtDNA) haplotypes, detailed sequence analyses of internal transcribed spacers (ITSs) of nuclear ribosomal genes reveal extremely high diversity, even within individual nematodes. This ITS diversity is broadly structured into two very different groups that are 12%-18% divergent: one with low diversity (< 1.0%) and one with high diversity (6%-7%). In both of these groups, identical sequences can be found within individual nematodes of different mtDNA haplotypes (i.e., among species). Analysis of genetic variance indicates that more than 90% of ITS diversity can be found within an individual nematode, with small but statistically significant (5%-10%; P < 0.05) variance distributed among mtDNA lineages. The evolutionarily distinct parthenogen M. hapla shows a similar pattern of ITS diversity, with two divergent groups of ITSs within each individual. In contrast, two diploid amphimictic species have only one lineage of ITSs with low diversity (< 0.2%). The presence of divergent lineages of rDNA in the apomictic taxa is unlikely to be due to differences among pseudogenes. Instead, we suggest that the diversity of ITSs in M. arenaria, M. javanica, and M. incognita is due to hybrid origins from closely related females (as inferred from mtDNA) and combinations of more diverse paternal lineages.     

Dispersal and phylogeography of the agamid lizard Amphibolurus nobbi in fragmented and continuous habitat

Approximately 90% of native vegetation has been cleared for agriculture in central New South Wales, Australia. Habitat loss has reduced and fragmented populations of the agamid lizard Amphibolurus nobbi. We compared genetic structure of populations of this species in an unmodified landscape with those from small nature reserves and linear remnants in farming areas. We ask: Is there evidence for reduced dispersal and population fragmentation among farm populations? Using 2008 bp mtDNA sequences and allozyme electrophoresis, we found that small populations in farming areas had as much genetic variation as populations in nature reserves. Application of nested clade analysis (NCA) indicated isolation-by-distance effects among populations from uncleared areas, but not among populations within farming locations. The genetic evidence therefore implied a high level of migration in the cleared landscapes. High dispersal after fragmentation may have resulted from either a burst of movement at the time of land clearing with dragons from many sources finding refuge in a few remnants, or from ongoing rapid dispersal through unsuitable habitat. A phylogeny based on mtDNA revealed that A. nobbi populations in the study area are deeply divided into two reciprocally monophyletic groups. Although we did not sample the entire species range, one of these evolutionarily significant units was only detected in remnant vegetation in the agricultural landscape. Therefore, a substantial subclade of this species may be vulnerable to extinction. Our findings emphasize that local populations of widespread species can harbour important intraspecific genetic diversity, supporting the case for maintaining widespread species throughout production landscapes.     

Kuku—Yalanji Rainforest Aboriginal People and Carbohydrate Resource Management in the Wet Tropics of Queensland, Australia

Carbohydrate food sources have emerged as a critical factor limiting occupation of rainforests by hunter—gatherer peoples globally. In the wet tropics bioregion of northeastern Australia, Kuku–Yalanji aboriginal people occupied the rainforests through a hunter–gatherer subsistence economy prior to European occupation. Collaborative environmental research between a researcher at the James Cook University and Kuku–Yalanji people has established that their fire management protected carbohydrate resources in the fire-sensitive rainforests and their margins, and ensured ongoing access to the critical dry season carbohydrate resource, Cycas media, growing in patches of fire-prone open forest on each clan estate. Carbohydrate resources in the wet season were obtained predominantly from seeds of rainforest tree nuts, a high proportion of which are wet tropics endemic species. Several of the genera utilized by aboriginal people in the wet tropics bioregion also occur in the rainforests of eastern Cape York Peninsula, where they were not utilized as foods. It is hypothesized that use of rainforest seeds for carbohydrate is a cultural adaptation that occurred in the wet tropics bioregion, stimulated by the unique availability of the substantial number of large-seeded rainforest trees that are wet tropics endemics. The implications of these data for concepts about the impact of aboriginal fires on Australian rainforests are considered. Aboriginal fires imposed a fine patterning on the vegetation at the local scale, with little effect on the vegetation at the regional scale, which is determined by environmental factors.     

Phylogeography and population history of the endangered golden sun moth (Synemon plana) revealed by allozymes and mitochondrial DNA analysis

A combination of allozyme and mitochondrial DNA markers were used to determine the contribution of recent and ancient causes of patterns of genetic variation within and among 46 populations of the endangered golden sun moth, Synemon plana. Allozyme analysis grouped the 46 populations into 5 major genetic clusters that corresponded closely with geographic location following a classic isolation-by-distance model. Phylogenetic analysis of 14 mtDNA haplotypes revealed two reciprocally monophyletic groups. One of these groups (containing 4 geographically distant populations) was clearly identified by allozyme analysis and represents a distinct evolutionary unit. The remaining 4 allozyme groups were not distinguishable by mtDNA analysis. The evidence suggests that the populations within these groups derived from a small founding population that underwent rapid demographic expansion in ancient times. This was followed by more recent population bottlenecks resulting from habitat fragmentation associated with the widespread introduction of agriculture into the region. The generally low levels of allozyme and nucleotide diversity within these populations support this hypothesis. This revised version was published online in July 2006 with corrections to the Cover Date.     

Female and Male Perspectives on the Neolithic Transition in Europe: Clues from Ancient and Modern Genetic Data

The arrival of agriculture into Europe during the Neolithic transition brought a significant shift in human lifestyle and subsistence. However, the conditions under which the spread of the new culture and technologies occurred are still debated. Similarly, the roles played by women and men during the Neolithic transition are not well understood, probably due to the fact that mitochondrial DNA (mtDNA) and Y chromosome (NRY) data are usually studied independently rather than within the same statistical framework. Here, we applied an integrative approach, using different model-based inferential techniques, to analyse published datasets from contemporary and ancient European populations. By integrating mtDNA and NRY data into the same admixture approach, we show that both males and females underwent the same admixture history and both support the demic diffusion model of Ammerman and Cavalli-Sforza. Similarly, the patterns of genetic diversity found in extant and ancient populations demonstrate that both modern and ancient mtDNA support the demic diffusion model. They also show that population structure and differential growth between farmers and hunter-gatherers are necessary to explain both types of data. However, we also found some differences between male and female markers, suggesting that the female effective population size was larger than that of the males, probably due to different demographic histories. We argue that these differences are most probably related to the various shifts in cultural practices and lifestyles that followed the Neolithic Transition, such as sedentism, the shift from polygyny to monogamy or the increase of patrilocality.     

Deep History of East Asian Populations Revealed Through Genetic Analysis of the Ainu

Despite recent advances in population genomics, much remains to be elucidated with regard to East Asian population history. The Ainu, a hunter–gatherer population of northern Japan and Sakhalin island of Russia, are thought to be key to elucidating the prehistory of Japan and the peopling of East Asia. Here, we study the genetic relationship of the Ainu with other East Asian and Siberian populations outside the Japanese archipelago using genome-wide genotyping data. We find that the Ainu represent a deep branch of East Asian diversity more basal than all present-day East Asian farmers. However, we did not find a genetic connection between the Ainu and populations of the Tibetan plateau, rejecting their long-held hypothetical connection based on Y chromosome data. Unlike all other East Asian populations investigated, the Ainu have a closer genetic relationship with northeast Siberians than with central Siberians, suggesting ancient connections among populations around the Sea of Okhotsk. We also detect a recent genetic contribution of the Ainu to nearby populations, but no evidence for reciprocal recent gene flow is observed. Whole genome sequencing of contemporary and ancient Ainu individuals will be helpful to understand the details of the deep history of East Asians.     

Implications of Dental Caries in Anatolia: From Hunting–Gathering to the Present

Teeth are considered one of the most informative and durable parts of the skeleton. In Dental Anthropology, they are used to obtain information on culture, health, diet, variability and evolutionary trends in dental morphology as well as development, eruption and dental pathologies in the past and modern populations. In this study, an attempt was made to evaluate the results of dental caries, which is the most common dental disease, in order to document changing patterns of health and diet ranging from the transitional period of hunting–gathering through agriculture to the present day in human history in Anatolia. From the total sample of 400 modern individuals, a total of 5,208 maxillary teeth and 5,153 mandibular teeth were studied. The percentage of the occurrence of dental caries based on the individuals was 77.8%, whereas the frequency of dental caries on tooth type and class was 17.1% (18.0% maxillary decay; 16.2% mandibular decay). A comparative study of the frequency of caries in certain periods indicates the following: in the hunting–gathering period it was 1%–2%, in the Early Neolithic it was 3%–5% (Catal Hoyuk), in the Neolithic (beginning of agriculture) it was 5.6% (Cayonu), in the Chalcolithic it was 11.7% (Norsuntepe), in the Roman period it was 11.1% (Panaztepe), and 16% (Datca), in the Late Byzantine it was 10.9% (Iznik) and in the Medieval it is 14.2% (Arslantepe). These findings contribute to understanding how dietary change and life conditions are interrelated with the changing patterns of dental diseases in Anatolian populations.     

Complete mitochondrial genomes reveal neolithic expansion into Europe

The Neolithic transition from hunting and gathering to farming and cattle breeding marks one of the most drastic cultural changes in European prehistory. Short stretches of ancient mitochondrial DNA (mtDNA) from skeletons of pre-Neolithic hunter-gatherers as well as early Neolithic farmers support the demic diffusion model where a migration of early farmers from the Near East and a replacement of pre-Neolithic hunter-gatherers are largely responsible for cultural innovation and changes in subsistence strategies during the Neolithic revolution in Europe. In order to test if a signal of population expansion is still present in modern European mitochondrial DNA, we analyzed a comprehensive dataset of 1,151 complete mtDNAs from present-day Europeans. Relying upon ancient DNA data from previous investigations, we identified mtDNA haplogroups that are typical for early farmers and hunter-gatherers, namely H and U respectively. Bayesian skyline coalescence estimates were then used on subsets of complete mtDNAs from modern populations to look for signals of past population expansions. Our analyses revealed a population expansion between 15,000 and 10,000 years before present (YBP) in mtDNAs typical for hunters and gatherers, with a decline between 10,000 and 5,000 YBP. These corresponded to an analogous population increase approximately 9,000 YBP for mtDNAs typical of early farmers. The observed changes over time suggest that the spread of agriculture in Europe involved the expansion of farming populations into Europe followed by the eventual assimilation of resident hunter-gatherers. Our data show that contemporary mtDNA datasets can be used to study ancient population history if only limited ancient genetic data is available.     

Demography or selection on linked cultural traits or genes? Investigating the driver of low mtDNA diversity in the sperm whale using complementary mitochondrial and nuclear genome analyses

Mitochondrial DNA has been heavily utilized in phylogeography studies for several decades. However, underlying patterns of demography and phylogeography may be misrepresented due to coalescence stochasticity, selection, variation in mutation rates and cultural hitchhiking (linkage of genetic variation to culturally‐transmitted traits affecting fitness). Cultural hitchhiking has been suggested as an explanation for low genetic diversity in species with strong social structures, counteracting even high mobility, abundance and limited barriers to dispersal. One such species is the sperm whale, which shows very limited phylogeographic structure and low mtDNA diversity despite a worldwide distribution and large population. Here, we use analyses of 175 globally distributed mitogenomes and three nuclear genomes to evaluate hypotheses of a population bottleneck/expansion vs. a selective sweep due to cultural hitchhiking or selection on mtDNA as the mechanism contributing to low worldwide mitochondrial diversity in sperm whales. In contrast to mtDNA control region (CR) data, mitogenome haplotypes are largely ocean‐specific, with only one of 80 shared between the Atlantic and Pacific. Demographic analyses of nuclear genomes suggest low mtDNA diversity is consistent with a global reduction in population size that ended approximately 125,000 years ago, correlated with the Eemian interglacial. Phylogeographic analysis suggests that extant sperm whales descend from maternal lineages endemic to the Pacific during the period of reduced abundance and have subsequently colonized the Atlantic several times. Results highlight the apparent impact of past climate change, and suggest selection and hitchhiking are not the sole processes responsible for low mtDNA diversity in this highly social species.     

What influences the worldwide genetic structure of sperm whales (Physeter macrocephalus)?

The interplay of natural selection and genetic drift, influenced by geographic isolation, mating systems and population size, determines patterns of genetic diversity within species. The sperm whale provides an interesting example of a long‐lived species with few geographic barriers to dispersal. Worldwide mtDNA diversity is relatively low, but highly structured among geographic regions and social groups, attributed to female philopatry. However, it is unclear whether this female philopatry is due to geographic regions or social groups, or how this might vary on a worldwide scale. To answer these questions, we combined mtDNA information for 1091 previously published samples with 542 newly obtained DNA profiles (394‐bp mtDNA, sex, 13 microsatellites) including the previously unsampled Indian Ocean, and social group information for 541 individuals. We found low mtDNA diversity (π = 0.430%) reflecting an expansion event <80 000 years bp, but strong differentiation by ocean, among regions within some oceans, and among social groups. In comparison, microsatellite differentiation was low at all levels, presumably due to male‐mediated gene flow. A hierarchical amova showed that regions were important for explaining mtDNA variance in the Indian Ocean, but not Pacific, with social group sampling in the Atlantic too limited to include in analyses. Social groups were important in partitioning mtDNA and microsatellite variance within both oceans. Therefore, both geographic philopatry and social philopatry influence genetic structure in the sperm whale, but their relative importance differs by sex and ocean, reflecting breeding behaviour, geographic features and perhaps a more recent origin of sperm whales in the Pacific. By investigating the interplay of evolutionary forces operating at different temporal and geographic scales, we show that sperm whales are perhaps a unique example of a worldwide population expansion followed by rapid assortment due to female social organization.     

Hand osteoarthritis and bone loss: Is there an inverse relationship?

An inverse relationship between osteoarthritis (OA) and bone loss has been supported in clinical research, but there has been little research on bioarchaeological skeletal remains. The current study examines 115 adults from a prehistoric hunter–gatherer population to aid in determining whether hand OA and bone loss are negatively correlated. OA lipping is scored on a four-point scale on left and right trapezia, MC1s, and MC2s and then analyzed with regard to their relationships with sex, age, right MC2 cortical index, and left and right MC1 robusticity, midshaft circumference, and midshaft diameter values. With sexes and ages combined, higher OA scores are found in individuals with greater midshaft diameters. However, lower cortical indices were found in individuals with higher right MC2 OA scores. The data presented tenuously support that bone loss is lower in individuals with more severe osteoarthritis, but age-related changes in bone deposition may make cortical index and other external shaft dimensions an unsuitable variable to examine this relationship.