Skeletal growth and the changing genetic landscape during childhood and adulthood

Growth, development, and decline of the human skeleton are of central importance to physical anthropology. All processes of skeletal growth (longitudinal growth as well as gains and losses of bone mass) are subjected to environmental and genetic influences. These influences, and their relative contributions to the phenotype, can be asserted at any stage of life. We present here the gross phenotypic and genetic landscapes of four skeletal traits, and show how they vary across the life span. Phenotypic sex differences are found in bone diameter and cortical index (a ratio of cortical thickness over bone diameter) at a very early age and continue throughout most of life. Sexual dimorphism in summed cortical thickness and bone length, however, is not evident until shortly after the pubertal growth spurt. Genetic contributions (heritability) to these skeletal phenotypes are generally moderate to high. Bone length and bone diameter (which both scale with body size) tend to have the highest heritability, with heritability of bone length fairly stable across ages (with a notable dip in early childhood) and that of bone diameter peaking in early childhood. The bone traits summed cortical thickness and cortical index that may better reflect bone mass, a more plastic phenomenon, have slightly lower genetic influences, on average. Results from our phenotypic and genetic landscapes serve three key purposes: 1) demonstration of the integrated nature of the genetic and environmental underpinnings of skeletal form, 2) identification of periods of bone's relative sensitivity to genetic and environmental influences, 3) and stimulation of hypotheses predicting the effects of exposure to environmental variables on the skeleton, given variation in the underlying genetic architecture. Am J Phys Anthropol, 2013. © 2012 Wiley Periodicals, Inc.     

Differential mortality in Turkana agriculturalists and pastoralists

Nomadic pastoral populations appear to have much lower rates of growth than the otherwise very high growth rates now characteristic of populations in developing nations. Because dramatic declines in infant mortality have been a primary contributor to increased population growth rates in these countries, it has been assumed that nomadic pastoral populations are still characterized by high levels of mortality in the first few years of life. Few studies, however, have been undertaken to estimate demographic parameters for nomadic pastoral populations, and even fewer of a comparative nature have been undertaken to document the impact of subsistence strategy on demographic processes. This study compares indirect childhood mortality estimates for Turkana nomadic pastoralists with childhood mortality in a settled agricultural group within the same population and finds that pastoralists have substantially higher levels of mortality. Based on the childhood mortality estimates, model life tables are selected for pastoral and agricultural groups from which values for mean life expectancy and infant mortality are estimated and compared. Recent improvements in primary health care for the settled agricultural group are ruled out as being an important cause of their lower mortality levels, and some aspects of life-style associated with subsistence strategy are discussed as likely determinants of the mortality differences.     

遗传学视角下东亚人群的起源和演化

东亚是研究解剖学意义上现代人迁徙和演化的重要地带之一,该地区现代人群的起源及形成问题一直都是人类学领域广泛关注的焦点。遗传学研究为重建东亚人群历史提供了新的视角和见解。越来越多的遗传学证据表明,现代人约20万年前起源于非洲的晚期智人,并于10万年前走出非洲,大约在5~6万年前沿海岸线快速到达东亚南部,进而扩散到整个东亚地区。早期智人可能对走出非洲的现代人有一定程度的遗传贡献。早期定居、文化同化、人群迁徙以及基因交流等,对东亚人群的起源和演化起着至关重要的作用。前期的研究对东亚人群的源流历史进行了细致的分析,很大程度上解决了考古学、历史学等领域长期以来存在的分歧,然而这还需通过全基因组学和古DNA研究的进一步验证。本文从遗传学视角梳理和总结了东亚人群起源、迁徙和演化的历史,完善了对东亚人群演变的系统认识,并对未来东亚人群源流历史研究的发展方向做了展望。     

Skeletal variation in the early clathrodictyid stromatoporoids of Upper Ordovician and its paleoecological and phylogenetic implications

This study reports four species belonging to two genera of clathrodictyid stromatoporoids from the Sanqushan Formation (Katian, Upper Ordovician), Changshan County, Zhejiang Province, East China: Clathrodictyon cf. mammillatum (Schmidt), C. plicatum Webby and Banks, C. cf. microundulatum Nestor and Labyrinthodictyon cascum (Webby and Morris). Of these, three species (C. cf. mammillatum, C. plicatum and L. cascum) show a wide range of skeletal variation, representing the variation from the normal skeletal phase to abnormal Ecclimadictyon-like crumpled skeletal phase, especially in the axial part of the columnar growth forms. It is uncertain whether the skeletal variation in early clathrodictyids was the result of environmental stress (such as abrupt sediment influxes that often cause growth interruptions of the stromatoporoids) or genetic inheritance. These characteristics suggest that this group had greater environmental tolerance than the earlier labechiids and increased ecological complexity during Late Ordovician by providing a stable, solid and elevated substrate for the other benthic organisms. This may imply that the labechiids and clathrodictyids are quite different groups, probably independently derived during the early evolution of stromatoporoids.     

Social Networks and Knowledge Transmission Strategies among Baka Children,Southeastern Cameroon

The dynamics of knowledge transmission and acquisition, or how different aspects of culture are passed from one individual to another and how they are acquired and embodied by individuals, are central to understanding cultural evolution. In small-scale societies, cultural knowledge is largely acquired early in life through observation, imitation, and other forms of social learning embedded in daily experiences. However, little is known about the pathways through which such knowledge is transmitted, especially during middle childhood and adolescence. This study presents new empirical data on cultural knowledge transmission during childhood. Data were collected among the Baka, a forager-farmer society in southeastern Cameroon. We conducted structured interviews with children between 5 and 16 years of age (n?=?58 children; 177 interviews, with children being interviewed 1–6 times) about group composition during subsistence activities. Children’s groups were generally diverse, although children tended to perform subsistence activities primarily without adults and with same-sex companions. Group composition varied from one subsistence activity to another, which suggests that the flow of knowledge might also vary according to the activity performed. Analysis of the social composition of children’s subsistence groups shows that vertical and oblique transmission of subsistence-related knowledge might not be predominant during middle childhood and adolescence. Rather, horizontal transmission appears to be the most common knowledge transmission strategy used by Baka children during middle childhood and adolescence, highlighting the importance of other children in the transmission of knowledge.     

Population history of the Red Sea--genetic exchanges between the Arabian Peninsula and East Africa signaled in the mitochondrial DNA HV1 haplogroup

Archaeological studies have revealed cultural connections between the two sides of the Red Sea dating to prehistory. The issue has still not been properly addressed, however, by archaeogenetics. We focus our attention here on the mitochondrial haplogroup HV1 that is present in both the Arabian Peninsula and East Africa. The internal variation of 38 complete mitochondrial DNA sequences (20 of them presented here for the first time) affiliated into this haplogroup testify to its emergence during the late glacial maximum, most probably in the Near East, with subsequent dispersion via population expansions when climatic conditions improved. Detailed phylogeography of HV1 sequences shows that more recent demographic upheavals likely contributed to their spread from West Arabia to East Africa, a finding concordant with archaeological records suggesting intensive maritime trade in the Red Sea from the sixth millennium BC onwards. Closer genetic exchanges are apparent between the Horn of Africa and Yemen, while Egyptian HV1 haplotypes seem to be more similar to the Near Eastern ones.     

Genetic and linguistic affinities between human populations in Eurasia and West Africa

This study examines the relationship between genetic distance and linguistic affiliation for five regional sets of populations from Eurasia and West Africa. Human genetic and linguistic diversity have been proposed to be generally correlated, either through a direct link, whereby linguistic and genetic affiliations reflect the same past population processes, or an indirect one, where the evolution of the two types of diversity is independent but conditioned by the same geographical factors. By controlling for proximity, indirect correlations due to common geography are eliminated, and any residual relationships found are likely to reflect common linguistic-genetic processes. Clear relationships between genetic distances and linguistic relatedness are detectable in Europe and East and Central Asia, but not in the Middle East, Southeast Asia, or West Africa. We suggest that linguistic and genetic affiliations will only be correlated under specific conditions, such as where there have been large-scale demic diffusions in the last few thousand years, and relative sedentism in the subsequent period.     

Common genetic and environmental factors among craniofacial traits in Belgian nuclear families: Comparing skeletal and soft-tissue related phenotypes

The major objective of this study was to determine the possible effects of common genetic and environmental factors among 18 craniofacial anthropometric traits, with special attention to the differences between skeletal and soft-tissue related phenotypes. The studied sample consisted of 122 nuclear families living in Brussels and included 251 males and 258 females aged from 13 to 72 years. Univariate and bivariate quantitative genetic analyses were performed using a variance components procedure implemented in SOLAR software.All phenotypes were significantly influenced by additive genetic factors with heritability estimates ranging from 0.46 (nose height) to 0.72 (external biocular breadth). Sex, age and their interactions explained 7-46% of the total phenotypic variance of the traits. Bivariate analysis revealed that several traits share a common genetic and/or environmental basis while other traits show genetic and environmental independence from one another. More and greater genetic and environmental correlations were observed among skeletal phenotypes, than among soft-tissue traits and between both categories. Apart from the tissue composition, other characteristics of the craniofacial morphology such as the orientation (e.g. heights, breadths) have shown to be important factors in determining pleiotropy and common environmental effects between some pairs of traits. In conclusion, the results confirm that overall head configuration is largely determined by additive genetic effects, and that common genetic and environmental factors affecting craniofacial size and shape are stronger for the skeletal traits than for the soft-tissue traits.     

月经初潮对女孩体格发育和体型分布的影响

目的：分析初潮对女孩体格发育和体型分布的影响。方法：询问初潮发生时间。根据初潮发生状况分组,比较各组的体格发育状况,并作Heath-Carter体型分析。结果：同年龄已来潮女孩无论骨骼、肌肉、体脂、身高等都明显较未来潮女孩提前,年龄越小越明显。月经初潮后1年内,体格发育的增长趋势仍很明显,由此造成已、未来潮,刚来潮和来潮时间较久的女孩间,在体型分布上的显著差异。结论：初潮发生早晚对女孩体型有明显影响,其中受影响最大的是反映体脂累积的内因子。本研究无论对体质人类学研究或是在专门人才的早期选拔方面,都将提供一定的科学依据。     

Adult proportionality in small-bodied foragers: a test of ecogeographic expectations

If predictable, ecogeographic patterning in body size and proportions of human populations can provide valuable information regarding human biology, adaptation to local environments, migration histories, and health, now and in the past. This paper evaluates the assumption that small-bodied Later Stone Age (LSA) foragers of Southern Africa show the adult proportions that would be expected of warm-adapted populations. Comparisons are also made with small-bodied foragers from the Andaman Islands (AI). Indices including brachial, crural, limb element length to skeletal trunk height, and femoral head and bi-iliac breadth to femoral length were calculated from samples of LSA (n = 124) and AI (n = 31) adult skeletons. Samples derived from the literature include those from high (Europe), middle (North Africa), and low (Sub-Saharan Africa) latitude regions. The LSA and AI samples match some but not all expected ecogeographic patterns for their particular regions of long term habitation. For most limb length to skeletal trunk height indices the LSA and AI are most similar to the other mid-latitude sample (North Africans). However, both groups are similar to low latitude groups in their narrow bi-iliac breadths, and the AI display relatively long radii. Proportions of LSA and AI samples also differ from those of African pygmies. In regions like southern-most Africa, that do not experience climatic extremes of temperature or humidity, or where small body size exists through drift or selection, body size, and proportions may also be influenced by nonclimatic variables, such as energetic efficiency.     

Slimy leaves and oily seeds: Distribution and use of wild relatives of sesame in Africa

This is a cultural, ecological, economic, geographical and historical study of the close wild relatives of sesame in Africa. Medical, culinary, cosmetic and industrial use of each species is assembled along with ethnographic and linguistic data. Collectively, it presents a summary of the genetic resources of Sesamum. The relative importance of each species varies by location, however most of these taxa are used in strikingly similar ways by subsistence farmers. Comparison of usage by ethnic group reveals the social role these valuable leaf vegetables play in daily life, particularly during times of shortage and famine. Fieldwork provides firsthand data, supplementing herbarium specimens and the published literature about the distribution, uses and environmental adaptations of wild Sesamum species and their close relative, Ceratotheca sesamoides Endl.     

淀山湖浮游植物优势种生态位

运用改进的Levins公式和Petraitis指数测定了淀山湖浮游植物优势种的生态位宽度和生态位重叠,分析了生态位宽度、种间生态位重叠与优势种密度和优势度的相关性.结果表明： 不同时期各优势种的生态位宽度和生态位重叠不尽相同,各物种对环境因子的适应能力存在差异.根据不同季节的生态位宽度可以将淀山湖浮游植物优势种分为4类;尖尾蓝隐藻和小球藻的生态位较宽,数量较多,分布较广,能充分利用环境资源.水华暴发时期,蓝藻门各优势种与其他藻类之间的生态位重叠程度相对偏高;铜绿微囊藻的生态位变宽,而其他优势种的生态位宽度相对有所降低.各季节优势种的优势度与其生态位宽度呈显著相关,优势种密度与生态位重叠呈极显著相关.     

Genetic basis of human female pelvic morphology: a twin study

To examine the relative role of genetic and environmental factors on pelvic morphology, data on 60 pairs of female twins (30 monozygotic (MZ) and 30 dizygotic (DZ)) were analyzed. Fourteen pelvic measurements were normally distributed, and two were not. Association of twin type with the mean value of a trait was found in only 1 out of 8 traits. Heterogeneity of variance between zygosities was observed in 4 pelvic traits (50%), invalidating within-pair estimates of genetic variance for these traits. Evidence of stronger environmental covariance for MZ than DZ twins was observed for only one trait (sitting height iliocristale). A significant genetic component of variation was observed for age at menarche and in the pelvic area. In instances where inequality of variances between zygosities was demonstrated, total among-pair and within-pair mean squares were larger for dizygotic than for monozygotic twins. This is interpreted as evidence of greater environmental influence between zygosities. Environmental modification was not of the same magnitude in various pelvic traits. Bitrochanteric breadth had the highest magnitude of cultural heritability, indicating that cultural factors played an important role in determining hip breadth.     

Developmental variation in ecogeographic body proportions

While ecogeographic variation in adult human body proportions has been extensively explored, relatively less attention has been paid to the effect of Bergmann's and Allen's rules on human body shape during growth. The relationship between climate and immature body form is particularly important, as immature mortality is high, mechanisms of thermoregulation differ between young and mature humans, and immature body proportions fluctuate due to basic parameters of growth. This study explores changes in immature ecogeographic body proportions via analyses of anthropometric data from children included in Eveleth and Tanner's (1976) Worldwide Variation in Human Growth, as well as limb proportion measurements in eight different skeletal samples. Moderate to strong correlations exist between climatic data and immature stature, weight, BMI, and bi-iliac breadth; these relationships are as strong, if not stronger, in immature individuals as they are in adults. Correlations between climate and trunk height relative to stature are weak or nonexistent. Altitude also has significant effects on immature body form, with children from higher altitudes displaying smaller statures and lower body weights. Brachial and crural indices remain constant over the course of growth and display consistent, moderate correlations with latitude across ontogeny that are just as high as those detected in adults. The results of this study suggest that while some features of immature body form, such as bi-iliac breadth and intralimb indices, are strongly dictated by ecogeographic principles, other characteristics of immature body proportions are influenced by intrinsic and extrinsic factors such as nutrition and basic constraints of growth.     

How Do Hunter-Gatherer Children Learn Subsistence Skills?

Hunting and gathering is, evolutionarily, the defining subsistence strategy of our species. Studying how children learn foraging skills can, therefore, provide us with key data to test theories about the evolution of human life history, cognition, and social behavior. Modern foragers, with their vast cultural and environmental diversity, have mostly been studied individually. However, cross-cultural studies allow us to extrapolate forager-wide trends in how, when, and from whom hunter-gatherer children learn their subsistence skills. We perform a meta-ethnography, which allows us to systematically extract, summarize, and compare both quantitative and qualitative literature. We found 58 publications focusing on learning subsistence skills. Learning begins early in infancy, when parents take children on foraging expeditions and give them toy versions of tools. In early and middle childhood, children transition into the multi-age playgroup, where they learn skills through play, observation, and participation. By the end of middle childhood, most children are proficient food collectors. However, it is not until adolescence that adults (not necessarily parents) begin directly teaching children complex skills such as hunting and complex tool manufacture. Adolescents seek to learn innovations from adults, but they themselves do not innovate. These findings support predictive models that find social learning should occur before individual learning. Furthermore, these results show that teaching does indeed exist in hunter-gatherer societies. And, finally, though children are competent foragers by late childhood, learning to extract more complex resources, such as hunting large game, takes a lifetime.     

Unraveling the complex maternal history of Southern African Khoisan populations

The Khoisan populations of southern Africa are known to harbor some of the deepest‐rooting lineages of human mtDNA; however, their relationships are as yet poorly understood. Here, we report the results of analyses of complete mtDNA genome sequences from nearly 700 individuals representing 26 populations of southern Africa who speak diverse Khoisan and Bantu languages. Our data reveal a multilayered history of the indigenous populations of southern Africa, who are likely to be the result of admixture of different genetic substrates, such as resident forager populations and pre‐Bantu pastoralists from East Africa. We find high levels of genetic differentiation of the Khoisan populations, which can be explained by the effect of drift together with a partial uxorilocal/multilocal residence pattern. Furthermore, there is evidence of extensive contact, not only between geographically proximate groups, but also across wider areas. The results of this contact, which may have played a role in the diffusion of common cultural and linguistic features, are especially evident in the Khoisan populations of the central Kalahari. Am J Phys Anthropol 153:435–448, 2014. © 2013 Wiley Periodicals, Inc.     

Evolution of functionally diverse alleles associated with PTC bitter taste sensitivity in Africa

Although human bitter taste perception is hypothesized to be a dietary adaptation, little is known about genetic signatures of selection and patterns of bitter taste perception variability in ethnically diverse populations with different diets, particularly from Africa. To better understand the genetic basis and evolutionary history of bitter taste sensitivity, we sequenced a 2,975 bp region encompassing TAS2R38, a bitter taste receptor gene, in 611 Africans from 57 populations in West Central and East Africa with diverse subsistence patterns, as well as in a comparative sample of 132 non-Africans. We also examined the association between genetic variability at this locus and threshold levels of phenylthiocarbamide (PTC) bitterness in 463 Africans from the above populations to determine how variation influences bitter taste perception. Here, we report striking patterns of variation at TAS2R38, including a significant excess of novel rare nonsynonymous polymorphisms that recently arose only in Africa, high frequencies of haplotypes in Africa associated with intermediate bitter taste sensitivity, a remarkably similar frequency of common haplotypes across genetically and culturally distinct Africans, and an ancient coalescence time of common variation in global populations. Additionally, several of the rare nonsynonymous substitutions significantly modified levels of PTC bitter taste sensitivity in diverse Africans. While ancient balancing selection likely maintained common haplotype variation across global populations, we suggest that recent selection pressures may have also resulted in the unusually high level of rare nonsynonymous variants in Africa, implying a complex model of selection at the TAS2R38 locus in African populations. Furthermore, the distribution of common haplotypes in Africa is not correlated with diet, raising the possibility that common variation may be under selection due to their role in nondietary biological processes. In addition, our data indicate that novel rare mutations contribute to the phenotypic variance of PTC sensitivity, illustrating the influence of rare variation on a common trait, as well as the relatively recent evolution of functionally diverse alleles at this locus.     

Geography predicts neutral genetic diversity of human populations

A leading theory for the origin of modern humans, the ‘recent African origin’ (RAO) model [1], postulates that the ancestors of all modern humans originated in East Africa and that, around 100,000 years ago, some modern humans left the African continent and subsequently colonised the entire world, displacing previously established human species such as Neanderthals in Europe 2., 3.. This scenario is supported by the observation that human populations from Africa are genetically the most diverse [2] and that the genetic diversity of non-African populations is negatively correlated with their genetic differentiation towards populations from Africa [3].     

Growth and skeletal maturation in British Columbia Indian Populations

Stature and skeletal maturation in childhood, mature stature, and calorie and protein intakes were studied in two populations of British Columbia Indians. Although mature stature was similar in both groups, one population (Anaham) showed delayed stature achieved for age and delayed skeletal maturity in childhood, compared with the other population (Ahousat). Analysis of growth data suggests that environmental factors are probably the predominant cause of the differences, which coincide with differences in nutritional status. Mean calorie intakes at Ahousat approximate or exceed the Canadian Dietary Standards, but those at Anaham are consistently below the standards for all age groups. Although mean protein intakes are well above the standards for all age groups, except teen-age girls at both reserves, they are consistently lower at Anaham than at Ahousat.     

Examining the Causes and Consequences of Short-Term Behavioral Change during the Middle Stone Age at Sibudu,South Africa

Sibudu in KwaZulu-Natal (South Africa) with its rich and high-resolution archaeological sequence provides an ideal case study to examine the causes and consequences of short-term variation in the behavior of modern humans during the Middle Stone Age (MSA). We present the results from a technological analysis of 11 stratified lithic assemblages which overlie the Howiesons Poort deposits and all date to ~58 ka. Based on technological and typological attributes, we conducted inter-assemblage comparisons to characterize the nature and tempo of cultural change in successive occupations. This work identified considerable short-term variation with clear temporal trends throughout the sequence, demonstrating that knappers at Sibudu varied their technology over short time spans. The lithic assemblages can be grouped into three cohesive units which differ from each other in the procurement of raw materials, the frequency in the methods of core reduction, the kind of blanks produced, and in the nature of tools the inhabitants of Sibudu made and used. These groups of assemblages represent different strategies of lithic technology, which build upon each other in a gradual, cumulative manner. We also identify a clear pattern of development toward what we have previously defined as the Sibudan cultural taxonomic unit. Contextualizing these results on larger geographical scales shows that the later phase of the MSA during MIS 3 in KwaZulu-Natal and southern Africa is one of dynamic cultural change rather than of stasis or stagnation as has at times been claimed. In combination with environmental, subsistence and contextual information, our high-resolution data on lithic technology suggest that short-term behavioral variability at Sibudu can be best explained by changes in technological organization and socio-economic dynamics instead of environmental forcing.