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Objective: The extent to which social organization of human societies impacts the patterns of genetic diversity remains an open question. Here, we investigate the transmission of reproductive success in patrilineal and cognatic populations from Central Asia using a coalescent approach., Methods: We performed a study on the mitochondrial DNA (mtDNA) and Y chromosome polymorphism of patrilineal and cognatic populations from Central Asia. We reconstructed the gene genealogies in each population for both kind of markers and inferred the imbalance level of these genealogies, a parameter directly related to the level of transmission of reproductive success., Results: This imbalance level appeared much stronger for the Y chromosome in patrilineal populations than in cognatic populations, while no difference was found for mtDNA. Furthermore, we showed that this imbalance level correlates negatively with Y-chromosomal, mtDNA, and autosomal genetic diversity., Conclusions: This shows that patrilineality might be one of the factors explaining the male transmission of reproductive success, which, in turn, lead to a reduction of genetic diversity. Thus, notwithstanding the fact that our population genetic approach clearly shows that there is a strong male-biased transmission of reproductive success in patrilineal societies, it also highlights the fact that a social process such as cultural transmission of reproductive success could play an important role in shaping human genetic diversity, although we cannot formally exclude that this transmission has also a genetic component., (© 2015 Wiley Periodicals, Inc.)

Molecular anthropology has been widely used to infer the origin and processes of the colonization of Polynesia. However, there are still a lack of representative geographical studies of Eastern Polynesia and unchallenged genetic data about ancient Polynesian people. The absence of both of these elements prevents an accurate description of the demographic processes of internal dispersion within the Polynesian triangle. This study provides a twofold analysis of ancient and modern mtDNA in the eastern part of French Polynesia: the Gambier Islands. The paleogenetic analyses conducted on burials of the Temoe Atoll (14(th) -17(th) centuries) represent the first fully authenticated ancient human sequences from Polynesia. The identification of the "Melanesian" Q1 mtDNA lineage in ancient human remains substantiates the Near Oceanic contribution to the early gene pool of this region. Modern samples originate from Mangareva Island. Genealogical investigations enable us to reliably identify the conservation of the Melanesian component in Easternmost Polynesia, despite recent European colonization. Finally, the identification of rare mutations in sequences belonging to haplogroup B4a1a1a provides new perspectives to the debate on the internal peopling of the Polynesian region. Altogether, the results laid out in our study put the emphasis on the necessity of controlled sampling when discussing the internal settlement of Polynesia., (2010 Wiley-Liss, Inc.)

Recent paleogenetic studies have confirmed that the spread of the Neolithic across Europe was neither genetically nor geographically uniform. To extend existing knowledge of the mitochondrial European Neolithic gene pool, we examined six samples of human skeletal material from a French megalithic long mound (c.4200 cal BC). We retrieved HVR-I sequences from three individuals and demonstrated that in the Neolithic period the mtDNA haplogroup N1a, previously only known in central Europe, was as widely distributed as western France. Alternative scenarios are discussed in seeking to explain this result, including Mesolithic ancestry, Neolithic demic diffusion, and long-distance matrimonial exchanges. In light of the limited Neolithic ancient DNA (aDNA) data currently available, we observe that all three scenarios appear equally consistent with paleogenetic and archaeological data. In consequence, we advocate caution in interpreting aDNA in the context of the Neolithic transition in Europe. Nevertheless, our results strengthen conclusions demonstrating genetic discontinuity between modern and ancient Europeans whether through migration, demographic or selection processes, or social practices., (Copyright © 2010 Wiley-Liss, Inc.)

Osseous and dental nonmetric (discrete) traits have long been used to assess population variability and affinity in anthropological and archaeological contexts. However, the full extent to which nonmetric traits can reliably be used as a proxy for genetic data when assessing close or familial relationships is currently poorly understood. This study represents the unique opportunity to directly compare genetic and nonmetric data for the same individuals excavated from the Egyin Gol necropolis, Mongolia. These data were analyzed to consider the general efficacy of nonmetric traits for detecting familial groupings in the absence of available genetic data. The results showed that the Egyin Gol population is quite homogenous both metrically and genetically confirming a previous suggestion that the same people occupied the necropolis throughout the five centuries of its existence. Kinship analysis detected the presence of potential family burials in the necropolis. Moreover, individuals buried in one sector of the necropolis were differentiated from other sectors on the basis of nonmetric data. This separation is likely due to an outside Turkish influence in the paternal line, as indicated by the results of Y-chromosome analysis. Affinity matrices based on nonmetric and genetic data were correlated demonstrating the potential of nonmetric traits for detecting relationships in the absence of genetic data. However, the strengths of the correlations were relatively low, cautioning against the use of nonmetric traits when the resolution of the familial relationships is low., (© 2010 Wiley-Liss, Inc.)

Infracranial sequences of maturation are commonly used to estimate the age at death of nonadult specimens found in archaeological, paleoanthropological, or forensic contexts. Typically, an age assessment is made by comparing the degree of long-bone epiphyseal fusion in the target specimen to the age ranges for different stages of fusion in a reference skeletal collection. While useful as a first approximation, this approach has a number of shortcomings, including the potential for "age mimicry," being highly dependent on the sample size of the reference sample and outliers, not using the entire fusion distribution, and lacking a straightforward quantitative way of combining age estimates from multiple sites of fusion. Here we present an alternative probabilistic approach based on data collected on 137 individuals, ranging in age from 7- to 29-years old, from a documented skeletal collection from Coimbra, Portugal. We then use cross validation to evaluate the accuracy of age estimation from epiphyseal fusion. While point estimates of age can, at least in some circumstances, be both accurate and precise based on the entire skeleton, or many sites of fusion, there will often be substantial error in these estimates when they derive from one or only a few sites. Because a probabilistic approach to age estimation from epiphyseal fusion is computationally intensive, we make available a series of spreadsheets or computer programs that implement the approach presented here., (Copyright 2010 Wiley-Liss, Inc.)

Enthesopathies--that is, "musculo-skeletal stress markers"--are frequently used to reconstruct past lifestyles and activity patterns. Relatively little attention has been paid in physical anthropology to methodological gaps implicit in this approach: almost all methods previously employed neglect current medical insights into enthesopathies and the distinction between healthy and pathological aspects has been arbitrary. This study presents a new visual method of studying fibrocartilaginous enthesopathies of the upper limb (modified from Villotte: Bull Mém Soc Anthropol Paris n.s. 18 (2006) 65-85), and application of this method to 367 males who died between the 18th and 20th centuries, from four European identified skeletal collections: the Christ Church Spitalfields Collection, the identified skeletal collection of the anthropological museum of the University of Coimbra, and the Sassari and Bologna collections of the museum of Anthropology, University of Bologna. The analysis, using generalized estimating equations to model repeated binary outcome variables, has established a strong link between enthesopathies and physical activity: men with occupations involving heavy manual tasks have significantly (P-value < 0.001) more lesions of the upper limbs than nonmanual and light manual workers. Probability of the presence of an enthesopathy also increases with age and is higher for the right side compared with the left. Our study failed to distinguish significant differences between the collections when adjusted for the other effects. It appears that enthesopathies can be used to reconstruct past lifestyles of populations if physical anthropologists: 1) pay attention to the choice of entheses in their studies and 2) use appropriate methods., (Copyright 2009 Wiley-Liss, Inc.)

The origin and evolutionary history of modern humans is of considerable interest to paleoanthropologists and geneticists alike. Paleontological evidence suggests that recent humans originated and expanded from an African lineage that may have undergone demographic crises in the Late Pleistocene according to archaeological and genetic data. This would suggest that extant human populations derive from, and perhaps sample a restricted part of the genetic and morphological variation that was present in the Late Pleistocene. Crania that date to Marine Isotope Stage 3 should yield information pertaining to the level of Late Pleistocene human phenotypic diversity and its evolution in modern humans. The Nazlet Khater (NK) and Hofmeyr (HOF) crania from Egypt and South Africa, together with penecontemporaneous specimens from the Peştera cu Oase in Romania, permit preliminary assessment of variation among modern humans from geographically disparate regions at this time. Morphometric and morphological comparisons with other Late Pleistocene modern human specimens, and with 23 recent human population samples, reveal that elevated levels of variation are present throughout the Late Pleistocene. Comparison of Holocene and Late Pleistocene craniometric variation through resampling analyses supports hypotheses derived from genetic data suggesting that present phenotypic variation may represent only a restricted part of Late Pleistocene human diversity. The Nazlet Khater, Hofmeyr, and Oase specimens provide a unique glimpse of that diversity.

Age at death of a single skeletal individual or a group is essential information in archaeological, paleoanthropological, and forensic contexts. Dental remains are the most commonly used age indicators, but when the dentition is not available, or too few teeth are present for an accurate age assessment, other age indicators such as skeletal maturation must be used. Of particular utility in this regard is the fusion of the epiphyses of the infracranial skeleton. Here we present new aging standards based on the infracranial maturation of individuals from the known age and sex collection from Coimbra, Portugal. We scored infracranial epiphyseal fusion and spheno-occipital synchondrosis closure (64 loci of ossification in total) on 137 skeletons from individuals between 7 and 29 years old. We further discuss developmental differences between the sexes and similarities and differences between the Coimbra documented collection and other published aging standards., ((c) 2007 Wiley-Liss, Inc.)

In the present study, nuclear (autosomal and Y-chromosome short tandem repeats) and mitochondrial (hypervariable region I) ancient DNA data previously obtained from a 2,300-year-old Xiongnu population of the Egyin Gol Valley (south of Lake Baikal in northern Mongolia) (Keyser-Tracqui et al. 2003 Am. J. Hum. Genet. 73:247-260) were compared with data from two contemporary Mongolian populations: one from the same location (Egyin Gol Valley plus a perimeter of less than 100 km around the valley), and one from the whole of Mongolia. The principal objective of this comparative analysis was to assess the likelihood that genetic continuity exists between ancient and present-day Mongolian populations. Since the ancient Xiongnu sample might have been composed of some of the ancestors of the present-day Yakuts, data from a present-day Yakut population, as well as published data from Turkish populations, were also included in the comparative analysis. The main result of our study was the genetic similarity observed among Mongolian samples from different periods and geographic areas. This result supports the hypothesis that the succession over time of different Turkic and Mongolian tribes in the current territory of Mongolia resulted in cultural rather than genetic exchanges. Furthermore, it appears that the Yakuts probably did not find their origin among the Xiongnu tribes, as we previously hypothesized.

The excavation of five frozen graves at the Sytygane Syhe and Istekh-Myrane burial sites (dated at 400 years old) in central Yakutia revealed five human skeletons belonging to the Yakut population. To investigate the origin and evolution of the Yakut population as well as the kinship system between individuals buried in these two sites, DNA was extracted from bone samples and analyzed by autosomal short tandem repeats (STRs) and by sequencing hypervariable region I (HV1) of the mitochondrial DNA (mtDNA) control region. The results showed a diversity of sepulchral organizations linked probably to the social or genetic background of the subjects. Comparison of STR profiles, mitochondrial haplotypes, and haplogroups with data from Eurasian populations indicated affinities with Asian populations and suggested a relative specificity and continuity of part of the Yakut mitochondrial gene pool during the last five centuries. Moreover, our results did not support a Central Asian (with the exception of maternal lineage of West Eurasian origin) or Siberian origin of the maternal lineages of these ancient Yakut subjects, implying an ethnogenesis of the Yakut population probably more complex than previously proposed.

We successfully extracted DNA from a bone sample of a Neolithic skeleton (dated 3,600 +/- 60 years BP) excavated in northeastern Yakutia (east Siberia). Ancient DNA was analyzed by autosomal STRs (short tandem repeats) and by sequencing of the hypervariable region I (HV1) of the mitochondrial DNA (mtDNA) control region. The STR profile, the mitochondrial haplotype, and the haplogroup determined were compared with those of modern Eurasian and Native American populations. The results showed the affinity of this ancient skeleton with both east Siberian/Asian and Native American populations.

We extracted DNA from two skeletons belonging to the Sytho-Siberian population, which were excavated from the Sebÿstei site (dating back 2,500 years) in the Altai Republic (Central Asia). Ancient DNA was analyzed by autosomal short tandem repeats (STRs) and by the sequencing of the hypervariable region 1 (HV1) of the mitochondrial DNA (mtDNA) control region. The results showed that these two skeletons were not close relatives. Moreover, their haplogroups were characteristic of Asian populations. Comparison with the haplogroup of 3,523 Asian and American individuals linked one skeleton with a putative ancestral paleo-Asiatic population and the other with Chinese populations. It appears that the genetic study of ancient populations of Central Asia brings important elements to the understanding of human population movements in Asia., (Copyright 2003 Wiley-Liss, Inc.)

Noncarious tooth lesions (NCTL) are frequent findings in contemporary dental practices. Unlike other dental and periodontal diseases, NCTL have not been studied in an anthropological context. The purpose of the present study was to compare the prevalence of NCTL in three archaeological samples from the Copper Age and Middle Ages and in subjects examined in three dental practices. Both archaeological samples and dental-practice subjects were from southern France. In the archaeological sample group, no NCTL were detected in 3,927 teeth from 259 individuals. In the dental-practice group, prevalence rates were in agreement with current epidemiological data. Our data also suggest that prevalence of NCTL increases with age and is higher in females. Premolars were the most affected tooth type. Occurrence of NCTL has long been attributed to toothbrushing and to erosion by intrinsic and extrinsic acids. More recently, occlusal stress associated with tooth flexure has been implicated. The reasons underlying the total absence of NCTL in archaeological samples are discussed. The most likely explanations involve differences in lifestyle, diet, and dental condition., (Copyright 2003 Wiley-Liss, Inc.)

Isonymy is an ingenious and useful approach to studying kinship in human populations. However, it relies on assumptions that are difficult to verify. In this study, we provided a way to assess, in the early Québec population, the impact of factors such as polyphyletism, unbalanced sex-ratio among founders, and age differentials between spouses. All data were taken from the Population Register of Early Québec, which contains births, marriages, and deaths (>712,000) recorded in parish registers from the beginning of colonization (in 1608) to 1800. More specifically, using the 70,869 marriages recorded during that period, we compared kinship estimates given by genealogies, surnames, and paternal and maternal lineages. We also calculated a fifth coefficient of kinship by combining paternal and maternal lineage, thus providing a new way to test the isonymy method. The results show a good agreement between genealogical and isonymous estimates. However, this good correspondence is due to counterbalancing biases. Some of the implications of our results are discussed in the context of colonial America., (Copyright 2002 Wiley-Liss, Inc.)

A new visual method for the determination of sex using the human hip bone (os coxae) is proposed, based on a revision of several previous approaches which scored isolated characters of this bone. The efficacy of the methodology is tested on a sample of 402 adults of known sex and age of French and Portuguese origins. With the simultaneous use of five characters of the hip bone, it is possible to provide a correct sexual diagnosis in 95% of all cases, with an error of 2% and an inability to identify sex in only 3%. The advantage of this new method is a reduction in observer subjectivity, since the evaluation procedure cannot involve any anticipation of the result. In addition, this method of sex determination increases the probability of a correct diagnosis with isolated fragments of the hip bone, provided that a combination of elements of one character is found to be typically male or female., (Copyright 2002 Wiley-Liss, Inc.)

Remains of 15 hominids were recovered within a Mousterian archaeological context in the cave of Qafzeh, Israel. Dated to ca. 95 kyr BP, this skeletal material has been crucial for understanding biological, chronological, and cultural aspects of anatomically modern ancient Homo sapiens. The high proportion of children (N = 8) in Qafzeh Cave is unique among Middle Palaeolithic sites and encourages the search for skeletal evidence of disease and trauma. We report on the case of one child, Qafzeh 12, ca. 3 years old (according to modern human reference standards), who manifests some outstanding skeletal abnormalities that indicate hydrocephalus., (Copyright 2001 Wiley-Liss, Inc.)

The elucidation of patterns of cranial skeletal maturation and growth in fossil hominids is possible not only through dental studies but also by mapping different aspects of ossification in both extant African apes and humans. However, knowledge of normal skeletal development in large samples of extant great apes is flimsy. To remedy this situation, this paper offers an extensive survey and thorough discussion of the ossification of the posterior border of the sphenoid greater wing. Indeed, this area provides much information about basicranial skeletal maturation. We investigate three variants: the absence of the foramen spinosum and the position of both the foramen spinosum and the foramen ovale in relation to the sphenosquamosal suture. Providing original data about humans and 1,425 extant great ape skulls and using a sample of 64 fossil hominids, this study aimed to test whether different ossification patterns occurred during the course of human evolution. The incidence of three derived morphologies located on the posterior border of the sphenoid greater wing increases during human evolution at different geological periods. The evolutionary polarity of these three derived morphologies is assessed by outgroup comparison and ontogenetic methods. During human evolution, there is a clear trend for the foramen spinosum to be present and wholly located on the posterior area of the sphenoid greater wing. Moreover, in all the great ape species and in Australopithecus afarensis, the sphenosquamosal suture may split the foramen ovale. Inversely, the foramen ovale always lies wholly within the sphenoid greater wing in Australopithecus africanus, robust australopithecines, early Homo, H. erectus (and/or H. ergaster), and Homo sapiens. From ontogenetic studies in humans, we conclude that, during human evolution, the ossification of the posterior area of the sphenoid greater wing progressively surrounded the middle meningeal artery (passing through the foramen spinosum) and the small meningeal artery (passing through the foramen ovale).

Harris lines are regularly used in paleopathology as indicators of episodic nonspecific stress, but the methodology for their use has not been clearly established. We studied radiographs of the distal shaft of the tibia in 82 immature and 49 mature subjects from a medieval burial site and compared the number of Harris lines and observer error according to age categories. We found statistically significant differences in both line counts and in observer error by age groups. In conclusion, studies of Harris lines must take into account age variation in order to be validated.

From parent populations (N = 50,000) stochastically generated, representing different levels of correlation (r) between the age at death and a hypothetical biological indicator (r = 0.8-0.98), reference samples and target demographic samples are randomly drawn. Two iterative techniques, proportional fitting procedure and Bayesian, are used to estimate from the reference samples the age distribution of the targets. Due to the random fluctuations of the pattern of aging, both in the reference and target samples, these techniques converge only in expectation toward the true value of a distribution, but not in practice for any particular realization. Nevertheless, these techniques allow the estimation of the average of an age distribution, even if its shape is unknown. Under the hypothesis that the target sample is drawn from a stationary population, this average represents the life expectancy at 20 years (plus 20 years). Using this mean age at death for the adults and the juvenility index at death (D5-14/D20-omega), a new set of paleodemographic estimators were derived from 40 archaic life tables. For a hypothesized stable population, they give the life expectancy at birth and at 20 years, and the probability of death at 1 and 5 years.

The Shanidar 1 Neandertal partial skeleton presents osteophytic lesions on its vertebrae and appendicular skeleton which appear independent of the multiple traumatic and degenerative joint disease lesions on the individual. In particular, the large flowing osteophyte on the L3 body, a smaller one on the L5 body, and enthesopathic osteophytes on both calcaneal tuberosities, both patellae and the left ulnar olecranon, support a diagnosis of hyperostotic disease (DISH). The diagnosis is supported by small enthesopathic osteophytes on the preserved femoral greater trochanter and scapular corocoid process. This diagnosis would make it the oldest hominid specimen clearly presenting this systemic condition.