Human Variation

Course syllabus for a second-year course in psychological anthropology with a general student base (many psychology majors, but also a wide variety). Draws on my own interest in phenomenology, neuroanthropology, anthropology of the senses, and skill acquisition.

Objectives: The majority of anthropological studies on dermatoglyphics examine the heritability and inter-population variation of Level 1 detail (e.g., pattern type, total ridge count), while forensic scientists concentrate on individual uniqueness of Level 2 and 3 detail (e.g., minutiae and pores, respectively) used for positive identification.

Cranial and postcranial research on East and Southeast Asians has shown population variability between and within these two regions. Moreover, as populations vary by sex, sex differences vary by population. The purpose of this study is to provide the first descriptive and comparative analysis of two recently curated samples of complete, documented, contemporary skeletons from Thailand (N=104) and Hong Kong (N=94) that have not been previously studied. Sex differences reveal Hong Kong males and females as larger but less dimorphic than Thais. Stepwise discriminant function analysis of the Thai humerus and femur allowed 94%-96% sex classification accuracy. In conclusion, this research has increased our knowledge of sex and population differences in Asia and has important applications to demographic and medicolegal investigations.

We examined the affect of tissue depth variation on the reconstruction of facial form, through the application of the American method, utilizing published tissue depth measurements for emaciated, normal, and obese faces. In this preliminary study, three reconstructions were created on reproductions of the same skull for each set of tissue depth measurements. The resulting morphological variation was measured quantitatively using the anthropometric craniofacial variability index (CVI). This method employs 16 standard craniofacial anthropometric measurements and the results reflect ‘‘pattern variation’’ or facial harmony. We report no appreciable variation in the quantitative measure of the pattern facial form obtained from the three different sets of tissue depths. Facial similarity was assessed qualitatively utilizing surveys of photographs of the three reconstructions. Surveys indicated that subjects frequently perceived the reconstructions as representing different individuals. This disagreement indicates that size of the face may blind observers to similarities in facial form. This research is significant because it illustrates the confounding effect that normal human variation contributes in the successful recognition of individuals from a representational three-dimensional facial reconstruction. Research results suggest that successful identification could be increased if multiple reconstructions were created which reflect a wide range of possible outcomes for facial form. The creation of multiple facial images, from a single skull, will be facilitated as computerized versions of facial reconstruction are further developed and refined.

Establishing ancestry from a skeleton for forensic purposes has been shown to be difficult. The purpose of
this paper is to address the application of thirteen non-metric traits to estimate ancestry in three South
African groups, namely White, Black and ‘‘Coloured’’. In doing so, the frequency distribution of thirteen
non-metric traits among South Africans are presented; the relationship of these non-metric traits with
ancestry, sex, age at death are evaluated; and Kappa statistics are utilized to assess the inter and intrarater
reliability. Crania of 520 known individuals were obtained from four skeletal samples in South
Africa: the Pretoria Bone Collection, the Raymond A. Dart Collection, the Kirsten Collection and the
Student Bone Collection from the University of the Free State. Average age at death was 51, with an age
range between 18 and 90. Thirteen commonly used non-metric traits from the face and jaw were scored;
definition and illustrations were taken from Hefner [2], Bass [6] and Hauser and De Stephano [7].
Frequency distributions, ordinal regression and Cohen’s Kappa statistics were performed as a means to
assess population variation and repeatability. Frequency distributions were highly variable among South
Africans. Twelve of the 13 variables had a statistically significant relationship with ancestry. Sex
significantly affected only one variable, inter-orbital breadth, and age at death affected two (anterior
nasal spine and alveolar prognathism). The interaction of ancestry and sex independently affected three
variables (nasal bone contour, nasal breadth, and interorbital breadth). Seven traits had moderate to
excellent repeatability, while poor scoring consistency was noted for six variables. Difficulties in
repeating several of the trait scores may require either a need for refinement of the definitions, or these
character states may not adequately describe the observable morphology in the population. The
application of the traditional experience-based approach for estimating ancestry in forensic case work is
problematic.

Numerous lines of evidence suggest that Homo sapiens evolved as a distinct species in Africa by 150,000 years before the present (BP) and began major migrations out-of-Africa $50,000 BP. By 20,000 BP, our species had effectively colonized the entire Old World, and by 12,000 BP H. sapiens had a global distribution. We propose that this rapid migration into new habitats selected for individuals with low reactivity to novel stressors. Certain dopamine receptor D4 (DRD4) polymorphisms are associated with low neuronal reactivity and increased exploratory behavior, novelty seeking, and risk taking, collectively considered novelty-seeking trait (NS). One previous report (Chen et al.: Evol Hum Behav 20 (1999) 309-324) demonstrated a correlation between migratory distance

Evolutionary investigations of human crania typically take a limited view of cranial diversity as they discount the possibility that human cranial variation could simply be due to the effects of random genetic drift, gene flow and mutation in favor of natural selection and developmental changes. Natural selection alone cannot explain similarities between patterns of cranial and molecular diversity observed in humans. It appears that the amount of phenotypic variance in the human cranium decreases at the population level as a function of distance from Sub-Saharan Africa much in the same way as observed for human molecular data.

ABSTRACT: Cleft lip and palate (CLP) is a craniofacial malformation affecting more than seven million people worldwide that results in
defects of the hard palate, teeth, maxilla, nasal spine and floor, and maxillodental asymmetry. CLP facial soft-tissue depth (FSTD) values
have never been published. The purpose of this research is to report CLP FSTD values and compare them to previously published FSTD
values for normal children. Thirty-eight FSTDs were measured on cone beam computed tomography images of CLP children (n = 86;
7–17 years). MANOVA and ANOVA tests determined whether cleft type, age, sex, and bone graft surgical status affect tissue depths. Both
cleft type (unilateral/bilateral) and age influence FSTDs. CLP FSTDs exhibit patterns of variation that differ from normal children, particularly
around the oronasal regions of the face. These differences should be taken into account when facial reconstructions of children with CLP are created.

Variation in cranial robusticity among modern human populations is widely acknowledged but not well-understood. While the use of ''robust'' cranial traits in hominin systematics and phylogeny suggests that these characters are strongly heritable, this hypothesis has not been tested. Alternatively, cranial robusticity may be a response to differences in diet/mastication or it may be an adaptation to cold, harsh environments. This study quantifies the distribution of cranial robusticity in 14 geographically widespread human populations, and correlates this variation with climatic variables, neutral genetic distances, cranial size, and cranial shape. With the exception of the occipital torus region, all traits were positively correlated with each other, suggesting that they should not be treated as individual characters. While males are more robust than females within each of the populations, among the independent variables (cranial

"It is argued in this article that the human body both in health and disease cannot be fully understood without adequately accounting for the different levels of human variation.The article focuses on variation due to ancestry, arguing that the inclusion of information pertaining to ancestry in human anatomy teaching materials and courses should be carried out and implemented with care and in line with latest developments in biological
anthropology and related sciences. This seems to be of particular importance in the education of health professionals, as recent research suggests that better knowledge of human variation can improve clinical skills. It is also argued that relatively small curricular changes relating to the teaching of human variation can produce significant educational
gains."

Cranial vault thickness (CVT) has been reported at many different osteometric landmarks and features on the vault. Historically, only a few landmarks are used, often bregma, lambda, vertex, and right and left euryon, and frequently comparisons are based only on "thick" versus "thin" to describe the vault overall. What is inherent in this strategy is the use of a few locations to characterize the entire vault. The problem remains that there is little information concerning CVT variation throughout an individual's vault, and the causes of variation within recent Homo sapiens important to investigating thickness variation between species in Homo. This work describes thickness variation over the entire superior vault and compares the sexes, age groups and populations in recent H. sapiens. A proportional grid is applied to the superior vault to measure thickness at 219 sampling points in a geographically diverse sample of recent H.

Population history and positive assortative mating directs gene flow in such a way that biological
differences are recognized among groups. In turn, forensic anthropologists quantify biological
differences to estimate ancestry. Some anthropologists argue that highly admixed population groups,
such as South African coloureds, cannot achieve acceptable accuracies because within group variance is
too large. Whereas ancestry estimation in South Africa has been limited to craniometric data from South
African blacks and whites, the current study integrates craniometric and geometric morphometric data
from the three largest South African groups.
Crania from 377 South African individuals (black = 158, white = 112, and coloured = 107) comprised
the sample. Standard measurements were collected and the coordinate data were subjected to
Generalized Procrustes Analysis (GPA), which resulted in size-free shape variables (ProCoords). A
principal component analysis was used to combine the shape variation captured in the ProCoords
(ProCoords PC). Linear discriminant analysis (LDA), using equal priors, stepwise variable selection and
leave-one-out cross-validation, was conducted on the ProCoords, the ProCoords PCs, and the traditional
craniometric data.
The LDA using 18 stepwise selected ProCoords resulted in the highest cross-validated accuracy (89%).
Utilization of geometric morphometric data emphasized that the relative ___location of cranial landmarks
was more discriminating than simple linear distances. Regardless of high levels of genetic admixture,
South African coloureds are a homogeneous group and morphologically distinct from other
contemporaneous South African populations. Furthermore, the present study demonstrated a
correspondence between peer-reported race and morphological differences in the crania of black,
white, and coloured South Africans.

In this study, we investigated, for the first time from a forensic anthropological perspective, the question of mixed ancestry estimation for modern Filipinos with geographic origins in the Philippines. We derived estimates of continental ancestry using craniometrics from four sources: a new documented collection of current forensic significance from the Manila North Cemetery; the Howells cranial series representing a sample of unclaimed individuals from Manila but said largely to originate from more remote areas, with dates of death before 1940; the Hanihara sample aggregated from various locations and time periods across the Philippines; and the Hanihara series capturing various local indigenous, ethnic groups that are together identified as Philippine Negrito. Parental craniometrics were selected from the Howells data set and more recently collected samples from Europe and Asia. Using unsupervised clustering, we investigated the algorithmically defined three-cluster, or trihybrid admixture, model to infer continental ancestry for each individual, reporting their relative proportions of Asian, European, and African admixture. We used similar clustering procedures to identify more complex models, with a larger number of clusters, to explore patterns of affinity between our four Philippine samples and the recently acquired samples from Vietnam, Thailand, China (Hong Kong), Japan, and Korea. These analyses give insight into the relationships between both macro- and microgeographic regions, revealing at the country level how different population dynamics—whether political, economic, historical, and/or social—structure the ancestral makeup of Asian peoples, especially in the degree of European and African admixture. From these ancestry estimates, we found that population of origin explains 38–51% of the variation in each ancestry component, and we detected significant differences among the Asian samples in their quantities of ancestry. Filipinos appear considerably admixed, as they carry almost 20% less Asian ancestry than the average quantity (90%) estimated for the other Asian groups. We also revealed substructure within our representation of modern Filipinos, such that differences in the patterns of three-way admixture exist between each of the four Philippine samples; the Manila cemetery sample had the highest level of Asian ancestry, and, as we might expect, the Negrito sample had the greatest quantity of African ancestry. We performed additional analyses that introduced craniometrics from the Howells Australo-Melanesian series, to more fully investigate their relationship to the Asian samples and to better understand the African contributions common to the Philippine Negritos especially, as well as the other Southeast Asians and the Spanish and Portuguese groups. By mapping the cluster patterns on a global scale, these analyses reveal that, with craniometries just as with genetic loci, patterns of affinity are informative of the complex history of Southeast Asia, as they suggest vestiges of migration, trade, and colonialism, as well as more recent periods of isolation, marginalization, and occupation.

Extensive research in human genetics on presumably neutral loci has shown that the overwhelming majority of human diversity is found among individuals within local populations. Previous apportionments of craniometric diversity are similar to these genetic apportionments, implying that interregionally differing selection pressures have played a limited role in producing contemporary human cranial diversity. Here we show that when cranial variation is independently partitioned using principal components analysis of Mosimann shape variables, some estimates of interregional craniometric differentiation are larger than those for most genetic loci. These estimates are similar to estimates for genetic loci where interregionally differing selection pressures are implicated in producing the observed patterns of variation within and among regions. These results suggest that differences among regions in at least some cranial features, particularly in the nasal region, are in part the product of interregionally differing selection pressures. Moreover, these results have implications for assessing the biological affinities of prehistoric samples that are temporally separated from contemporary human reference populations. Am

La diversificación de los seres humanos, así como su origen, es y ha sido el objeto de estudio de la antropología biológica. A fines de siglo XIX y principios del XX se realizaban descripciones de caracteres biológicos de distintos grupos humanos. Sin perspectiva evolutiva, el objetivo predominante era la clasificación de la diversidad. Había un manifiesto interés en las mediciones antropométricas porque se creía que servían como -indicadores raciales‖. En cuanto a la evolución humana, se especulaba sobre su origen geográfico y las características de los primeros homínidos.

Against the background of the race debate and the principal elements of the current understanding of human intraspecific variation, we present the status of the race concept in Polish anthropology. Using questionnaires, we twice surveyed physical anthropologists about their agreement with the statement “There are biological races within the species Homo sapiens.” In the 1999 study, 62% of respondents disagreed with race (defined as subspecies) and 31% accepted it. In the 2001 study, this proportion was reversed: only 25% rejected race (by any definition) with the remaining respondents (75%) differing widely as to its accepted meaning. Each time, age was significant factor in differentiating the replies – in general, acceptance of race increased with age while rejection declined. It appears that Polish anthropologists regard race as a term without taxonomic value and often in a populational sense. Here we point out, however, the risks associated with the “metaphorical” use of the ter...

The craniofacial skeleton carries out diverse functions served by hierarchically integrated developmental and functional modules. The craniofacial biologist is interested in how the skeleton of the cranium evolves and develops to integrate these functions while the clinician is more concerned with how function and development is altered in disease. The study of pathology is informative with respect to the control of development as is the study of normal variability. Particularly interesting are the paranasal sinuses which show marked variation within humans, in the human fossil record and among our close relatives. Their variations in humans are important clinically because they can be associated with increased susceptibility to disease and render sinus surgery more difficult. The extent and nature of variation within and between cranial structures is also informative with respect to normal developmental regulation since this can inform us about how their development is regulated. To fully understand the reasons we possess paranasal sinuses and why they vary it is necessary to relate their development to the temporally and spatially integrated development of the face from modules. Recent advances in morphometrics and mechanical modelling of the developing face have opened up new avenues of investigation likely to lead to such an understanding. They have the potential to test mechanical and spatial hypotheses of sinus ontogeny and so are likely to lead to new insights into craniofacial biology of importance to both evolutionary biologist and clinician.Es esqueleto facial cumple una serie de funciones distintas que se llevan a cabo a través de módulos tanto funcionales como módulos del desarrollo todos ellos organizados jerárquicamente. Mientras que el biólogo craneofacial está interesado en conocer la evolución y la ontogenia de la integración de esto módulos en el esqueleto craneofacial, el clínico se interesa mas por como la función y el desarrollo están alterados por enfermedad. El estudio de las patologías y el de la variación normal son interesantes en cuanto a los mecanismos de control ontogénico. Los senos paranasales que demuestran una variación marcada en humanos modernos, homínidos fósiles y nuestros parientes evolutivos más cercanos, los simios, son especialmente interesantes. La variación de los senos paranasales en humanos tiene elevada importancia clínica porque se asocia con una susceptibilidad elevada a infectarse y porque aumenta la dificultad de intervención cirujana. El grado y la naturaleza de esta variación entre determinadas módulos craneofaciales y dentro de aquellos contienen también información sobre la regulación ontogénica normal. Para un conocimiento completo de los motivos de la formación de los senos paranasales y su variación es necesario relacionar su desarrollo con las propiedades de la integración espacio-temporal de los componentes craneofaciales a lo largo de la ontogenia. Avances recientes en morfometría y en la modelización mecánica de la cara durante su ontogenia han abierto nuevas perspectivas para la investigación. Estas metodologías permiten testar hipótesis espaciales y funcionales de la ontogenia de los senos. Asimismo, contienen el potencial de incrementar nuestro conocimiento sobre la biología craneofacial, algo tan importante para el biólogo evolutivo como para el clínico.

Lip print pattern (LPP) is unique to each individual. For decades, forensic experts have used LPP for personal identification to solve criminal cases. However, studies investigating ethnic variation in LPP are scanty. Our study wanted to investigate variation in LPP between two ethnic groups, Oraon tribals and Bengalee Hindus, residing in West Bengal, India. A total of 280 participants included 112 Oraons and168 Bengalee Hindus of both. Prints were taken using dark shaded lipstick and transparent cellophane tape and recorded into white A4 sheet. Prints were divided into four quadrants and examined by magnifying glass. For analysis of results, classification of Suzuki and Tsuchihashi was followed. A p value of 0.05 was considered to be statistically significant. It was observed that Type II pattern was dominant in first and second quadrants in both ethnic groups, irrespective of sex. Combination of Type II+III was found to be the most common pattern in males among both Oraons (16.2%) and Bengalee Hindus (12.2%) whereas in females Type II pattern (25.0%) among Oraons and Type III pattern among Bengalee Hindus (11.4%) was the most common. Chi square test showed statistically significant difference among females (p<0.05) and in third and fourth quadrants among males (p<0.01) of both ethnic groups. Our investigation clearly demonstrated sex and ethnic variations in LPP. Further studies are required to investigate ethnic variation in LPP among the various populations groups, both tribal as well as non-tribal, from different regions of India.

There has been much debate about why humans throughout the world differ in facial form. Previous studies of human skull morphology found levels of among-population differentiation that were comparable to those of neutral genetic markers, suggesting that genetic drift (neutral processes) played an important role in influencing facial differentiation. However, variation in soft-tissue morphology has not been studied in detail. In this study, we analyzed high-resolution 3D images of soft-tissue facial form in four Eurasian populations: Han Chinese, Tibetans, Uyghur and Europeans. A novel method was used to establish a high-density alignment across all of the faces, allowing facial diversity to be examined at an unprecedented resolution. These data exhibit signatures of population structure and history. However, among-population differentiation was higher for soft-tissue facial form than for genome-wide genetic loci, and high-resolution analyses reveal that the nose, brow area and cheekbones exhibit particularly strong signals of differentiation (Q st estimates: 0.3e0.8) between Europeans and Han Chinese. Our results suggest that local adaptation and/or sexual selection have been important in shaping human soft-tissue facial morphology.

We report the discovery of an African American Y chromosome that carries the ancestral state of all SNPs that defined the basal portion of the Y chromosome phylogenetic tree. We sequenced~240 kb of this chromosome to identify private, derived mutations on this lineage, which we named A00. We then estimated the time to the most recent common ancestor (TMRCA) for the Y tree as 338 thousand years ago (kya) (95% confidence interval ¼ 237-581 kya). Remarkably, this exceeds current estimates of the mtDNA TMRCA, as well as those of the age of the oldest anatomically modern human fossils. The extremely ancient age combined with the rarity of the A00 lineage, which we also find at very low frequency in central Africa, point to the importance of considering more complex models for the origin of Y chromosome diversity. These models include ancient population structure and the possibility of archaic introgression of Y chromosomes into anatomically modern humans. The A00 lineage was discovered in a large database of consumer samples of African Americans and has not been identified in traditional hunter-gatherer populations from sub-Saharan Africa. This underscores how the stochastic nature of the genealogical process can affect inference from a single locus and warrants caution during the interpretation of the geographic ___location of divergent branches of the Y chromosome phylogenetic tree for the elucidation of human origins.

We still have the same kinds of feelings as our ancestors who lived many thousands of years ago: love, hate, rage, despair, endurance, hope, anxiety, forbearance, loyalty, betrayal, and so forth…….That is why old books of science and technology are useless to us except as curiosities or material for histories of science and technology whereas great literature (fiction, poetry) and great art (painting, sculpture) and even great philosophy and ethics survive the ages.

Background
Sitting height (SH), sub ischial leg length (SILL) and the sitting height/leg length ratio (SH/SILL) are useful tools for assessing
human body proportions. They are often used to detect the presence of abnormal growth, especially in school-aged children.
Materials and Methods
Our cross-sectional study was conducted among 1012 preschool children aged 2 to 6-years from Integrated Child Development
Services (ICDS) scheme centers at Bali Gram Panchayat, Arambagh, Hooghly District, West Bengal, India. Anthropometric measurements
like height, weight, SH were measured following standard protocol.
Results
There was no age combined significant sex difference in any variable. However, age specific sex differences were there in few age
groups. Highly significant (p<0.001) age variations existed in all variables. The body mass index (BMI) was significantly (p<0.01)
negatively correlated with SILL (r=-0.443), SILLP (r=-0.302) and UTL (r=-0.346) in both sexes. It was significantly (p<0.01)
positively associated with UTLP (r=0.302). Moreover, SILL was significantly positively correlated with UTL in both sexes (boys,
r=0.821 and girls, r=0.871; p<0.01), whereas it was significantly negatively associated with UTLP (boys, r=-0.590 and girls, r=-
0.552; p<0.01) in the participants.
Conclusion
Our results suggest that, in both sexes, there were significant age differences in SILL, SILLP, upper trunk length (UTL) and unified
technology learning platform (UTLP). The BMI had significant associations with these variables in both sexes. Moreover, SILL
had significant correlation with UTL and UTLP among the participants.

Keywords

Sub ischial leg length;
BMI;
Upper trunk length;
Sub ischial leg length percentage;
Upper trunk length percentage.

Here we describe and evaluate a new method for quantifying long bone curvature using geometric morphometric and semi-landmark analysis of the human femur. The technique is compared with traditional ways of measuring subtense and point of maximum curvature using either coordinate calipers or projection onto graph paper. Of the traditional methods the graph paper method is more reliable than using coordinate calipers. Measurement error is consistently lower for measuring point of maximum curvature than for measuring subtense. The results warrant caution when comparing data collected by the different traditional methods. Landmark data collection proves reliable and has a low measurement

Background: Femoral sulcus angle is particularly important in clinical evaluation of patellofemoral joint. Individuals show considerable differences in asymmetrical dimensions of the femur. Objectives: To determine the size of femoral sulcus angles in adult black Malawians using the skeletal collection in the department of Anatomy, College of Medicine and assess their gender differences; to compare femoral sulcus angles of Malawians with other ethnic groups. Methods: A cross sectional study was done in which femoral sulcus angles of dry bones were measured using a goniometer. Results: There is no significant difference in the mean sulcus angles between right and left femora in males (p=0.8100) and females (p=0.0742); between all males combined and females combined (p=0.8845). There is a significant difference in the mean between all left femora combined and all right femora combined (p=0.0260). Conclusion: This study has provided the mean size of the femoral sulcus angle of adult Malawians. These findings suggest that the size of the sulcus angle cannot determine gender among adult black Malawians suggesting the interpretation that femora asymmetric dimensions are population specific, which should be considered in the patellofemoral joint evaluation.

Estimates of the amount of genetic differentiation in humans among major geographic regions (e.g., Eastern Asia vs. Europe) from quantitative-genetic analyses of cranial measurements closely match those from classical-and molecular-genetic markers. Typically, among-region differences account for 10% of the total variation. This correspondence is generally interpreted as evidence for the importance of neutral evolutionary processes (e.g., genetic drift) in generating among-region differences in human cranial form, but it was initially surprising because human cranial diversity was frequently assumed to show a strong signature of natural selection. Is the human degree of similarity of cranial and DNA-sequence estimates of among-region genetic differentiation unusual? How do comparisons with other taxa illuminate the evolutionary processes underlying cranial diversification? Chimpanzees provide a useful

The new paradigms proposed for human health risk assessment stress the need for the use of human and human-derived cell lines, and this review summarizes the use of primary human hepatocytes and hepatocyte subcellular preparations for the investigation of the metabolism and metabolic interactions of environmental chemicals. This includes interactions based on inhibition, induction, and activation. The role of cytotoxicity is also considered. The use of hepatocytes and hepatocyte preparations provides especially important information for the investigation of human variation and is summarized. This area is, at present, relatively neglected but will in the future be essential for accurate assessment of human health risk. A detailed summary of an initial attempt to utilize microarray technology for the study of genomewide effects is included. C 2013 Wiley Periodicals, Inc.

Cranial morphology is widely used to reconstruct evolutionary relationships, but its reliability in reflecting phylogeny and population history has been questioned. Some cranial regions, particularly the face and neurocranium, are believed to be influenced by the environment and prone to convergence. Others, such as the temporal bone, are thought to reflect more accurately phylogenetic relationships. Direct testing of these hypotheses was not possible until the advent of large genetic data sets. The few relevant studies in human populations have had intriguing but possibly conflicting results, probably partly due to methodological differences and to the small numbers of populations used. Here we use threedimensional (3D) geometric morphometrics methods to test explicitly the ability of cranial shape, size, and relative position/orientation of cranial regions to track population history and climate. Morphological distances among 13 recent human populations were calculated from four 3D landmark data sets, respectively reflecting facial, neurocranial, and temporal bone shape; shape and relative position; overall cranial shape; and centroid sizes. These distances were compared to neutral genetic and climatic distances among the same, or closely matched, populations. Results indicate that neurocranial and temporal bone shape track neutral genetic distances, while facial shape reflects climate; centroid size shows a weak association with climatic variables; and relative position/orientation of cranial regions does not appear correlated with any of these factors. Because different cranial regions preserve population history and climate signatures differentially, caution is suggested when using cranial anatomy for phylogenetic reconstruction.

Collagen fiber orientation is one aspect of the microstructure of bone that influences its mechanical properties. While the spatial distribution of preferentially oriented collagen is hypothesized to reflect the effects of loading during the process of aging, its variability in a modern human sample is essentially unknown. In a large sample (n = 67) of autopsied adults, the variability of collagen fiber orientation in the mid-shaft femur was examined in relation to age and sex. Montaged images of entire 100 microm thick cross-sections were obtained using circularly polarized light microscopy (CPLM) under standardized illuminating conditions. An automated image-analyzing routine divided images into 48 segments according to anatomical position. Average gray values (varying with orientation) were quantified for each segment, and one-way ANOVA with Tukey HSD post hoc tests were applied to assess differences between segments. Collagen fiber orientation appeared to be nonrandomly distribu...

The scientific working group on DNA analysis Methods (SWGDAM) mitochondrial DNA (mtDNA) population data set is used to infer the relative rarity of control region mtDNA profiles obtained from evidence samples and of profiles used for identification of missing persons. In this study, the African American haplogroup patterns in the SWGDAM data were analyzed in a phylogenetic context to determine relevant single nucleotide polymorphisms (SNPs) and to describe haplogroup distributions for Africans observed in these data sets. Over 200 SNPs (n ¼ 217) were observed in the African American data set (n ¼ 1148). These SNPs ranged from having 1-39 changes in the phylogenetic tree, with sites 152 and 16519 being the most variable. On average there were 5.8 changes for a character on the tree. The most variable sites (with 19 or more changes each) observed included 16093,

Human morphological changes do not follow universal pattern and vary
between/among individuals and other socio-cultural parameters. Study on age related changes in muscle and fat distribution are still insufficient considering particular occupational group like tea labourers. Present study explored the nature and magnitude of age changes in selected anthropometric and body composition traits in adult Oraon tea garden labourers of Alipurduar district. The anthropometric and body composition traits including 12 variables were collected from 712 healthy individuals. Study group was divided in 4 age cohorts. Sexual dimorphism was observed in the nature and magnitude of age changes in body composition traits. ANOVA showed differences between/among age groups for fat and fat free components traits. Pearson’s correlation showed positive relationship of age with fat components and negative relationship with height, weight, fat free components. Tea garden laborers showed unique nature and magnitude of age changes in muscle and fat starting immediately after young age.

The contribution of pre-mRNA processing mechanisms to the regulation of immune responses remains poorly studied despite emerging examples of their role as regulators of immune defenses. We sought to investigate the role of mRNA processing in the cellular responses of human macrophages to live bacterial infections. Here, we used mRNA sequencing to quantify gene expression and isoform abundances in primary macrophages from 60 individuals, before and after infection with Listeria monocytogenes and Salmonella typhimurium. In response to both bacteria we identified thousands of genes that significantly change isoform usage in response to infection, characterized by an overall increase in isoform diversity after infection. In response to both bacteria, we found global shifts towards (i) the inclusion of cassette exons and (ii) shorter 3' UTRs, with near-universal shifts towards usage of more upstream polyadenylation sites. Using complementary data collected in non-human primates, we show that these features are evolutionarily conserved among primates. Following infection, we identify candidate RNA processing factors whose expression is associated with individual-specific variation in isoform abundance. Finally, by profiling microRNA levels, we show that 3' UTRs with reduced abundance after infection are significantly enriched for target sites for particular miRNAs. These results suggest that the pervasive usage of shorter 3' UTRs is a mechanism for particular genes to evade repression by immune-activated miRNAs. Collectively, our results suggest that dynamic

The scientific working group on DNA analysis Methods (SWGDAM) mitochondrial DNA (mtDNA) population data set is used to infer the relative rarity of control region mtDNA profiles obtained from evidence samples and of profiles used for identification of missing persons. In this study, the African American haplogroup patterns in the SWGDAM data were analyzed in a phylogenetic context to determine relevant single nucleotide polymorphisms (SNPs) and to describe haplogroup distributions for Africans observed in these data sets. Over 200 SNPs (n ¼ 217) were observed in the African American data set (n ¼ 1148). These SNPs ranged from having 1-39 changes in the phylogenetic tree, with sites 152 and 16519 being the most variable. On average there were 5.8 changes for a character on the tree. The most variable sites (with 19 or more changes each) observed included 16093,

Variation in cranial robusticity among modern human populations is widely acknowledged but not well-understood. While the use of “robust” cranial traits in hominin systematics and phylogeny suggests that these characters are strongly heritable, this hypothesis has not been tested. Alternatively, cranial robusticity may be a response to differences in diet/mastication or it may be an adaptation to cold, harsh environments. This study quantifies the distribution of cranial robusticity in 14 geographically widespread human populations, and correlates this variation with climatic variables, neutral genetic distances, cranial size, and cranial shape. With the exception of the occipital torus region, all traits were positively correlated with each other, suggesting that they should not be treated as individual characters. While males are more robust than females within each of the populations, among the independent variables (cranial shape, size, climate, and neutral genetic distances), only shape is significantly correlated with inter-population differences in robusticity. Two-block partial least-squares analysis was used to explore the relationship between cranial shape (captured by three-dimensional landmark data) and robusticity across individuals. Weak support was found for the hypothesis that robusticity was related to mastication as the shape associated with greater robusticity was similar to that described for groups that ate harder-to-process diets. Specifically, crania with more prognathic faces, expanded glabellar and occipital regions, and (slightly) longer skulls were more robust than those with rounder vaults and more orthognathic faces. However, groups with more mechanically demanding diets (hunter-gatherers) were not always more robust than groups practicing some form of agriculture. Am J Phys Anthropol, 2010. © 2009 Wiley-Liss, Inc.

Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals. This integrated data set of common and rare alleles, called 'HapMap 3', includes both SNPs and copy number polymorphisms (CNPs). We characterized population-specific differences among low-frequency variants, measured the improvement in imputation accuracy afforded by the larger reference panel, especially in imputing SNPs with a minor allele frequency of #5%, and demonstrated the feasibility of imputing newly discovered CNPs and SNPs. This expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.

Natural variation plays an important but subtle and often ignored role in neuromechanical systems. This is especially important when designing for living or hybrid systems which involve a biological or self-assembling component. Accounting for natural variation can be accomplished by taking a population phenomics approach to modeling and analyzing such systems. I will advocate the position that noise in neuromechanical systems is partially represented by natural variation inherent in user physiology. Furthermore, this noise can be augmentative in systems that couple physiological systems with technology. There are several tools and approaches that can be borrowed from computational biology to characterize the populations of users as they interact with the technology. In addition to transplanted approaches, the potential of natural variation can be understood as having a range of effects on both the individual's physiology and function of the living/hybrid system over time. Finally, accounting for natural variation can be put to good use in human-machine system design, as three prescriptions for exploiting variation in design are proposed.

Human intraspecific variation is a complex problem, but may be better understood by using computational models in tandem with knowledge about the genetic bases of phenotypic traits. These results can be used in a multitude of settings. To move closer to this goal, biologically-realistic mappings between genotype and phenotype are constructed using genetic algorithm and neural network-like models. These models allow for gene-gene and gene-environment interactions to be characterized in the resulting phenotype. Two types of model are introduced: a simple, two-layer model, and a more complex model. The final section will focus on trends of growth and development in relation to relationship to modeling anthropometric traits and other morphological phenomena.

Objectives: The midface of extant Homo sapiens is known to undergo shape changes through fetal and neo-natal ontogeny; however, little work has been done to quantify these shape changes. Further , while midfacial traits which vary in frequency between populations of extant humans are presumed to develop prenatally, patterns of population-specific variation maxillary shape across ontogeny are not well documented. Only one study of fetal ontogeny which included specific discussion of the midface has taken a three-dimensional geometric morphometric approach, and that study was limited to one population (Japanese). The present research project seeks to augment our understanding of fetal maxillary growth patterns, most especially in terms of intraspecific variation. Materials and Methods: Three-dimensional coordinate landmark data were collected on the right maxillae of 102 fetal and neo-natal individuals from three groups (Euro-American, African-American, " Mixed Ancestry "). Results: Shape changes were seen mainly in the lateral wall of the piriform aperture, the anterior nasal spine, and the subnasal alveolar region. The greatest difference across age groups (second trimester, third trimester, neonates) was between the second and third trimester. Euro-Americans and African-Americans clustered by population and differences in midfacial morphology related to ancestry could be discerned as early as the second trimester (p 5 .002), indicating that population variation in maxillary morphology appears very early in ontogeny. Discussion: The midface is a critical region of the skull for assessing ancestry and these results indicate that maxillary morphology may be useful for estimating ancestry for prenatal individuals as young as the second trimester.

Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals. This integrated data set of common and rare alleles, called 'HapMap 3', includes both SNPs and copy number polymorphisms (CNPs). We characterized population-specific differences among low-frequency variants, measured the improvement in imputation accuracy afforded by the larger reference panel, especially in imputing SNPs with a minor allele frequency of #5%, and demonstrated the feasibility of imputing newly discovered CNPs and SNPs. This expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.

One of several microstructural variables known to affect the mechanical properties of bone is the degree of mineralization of bone matrix. The aim of this study was to examine mineralization density, and its variability with age and sex, from a biomechanical perspective. Histological sections, prepared from mid-shaft femora obtained at autopsy from 40 individuals, were imaged using quantitative backscattered electron microscopy. Each cross-section montage was divided into 48 segments according to anatomical position. Mean grey-level values were quantified for each segment. One-way ANOVA with Tukey HSD post hoc tests were used to test for differences in mineralization between segments, age groups and sexes. Results showed a decrease in overall degree of mineralization density with adult age, but an increase in its coefficient of variation. Degree of mineralization was significantly lower in the periosteal third of the cortex, particularly in the antero-lateral aspect. This pattern was most prevalent amongst the youngest individuals in the sample. Whereas males between ages 45-64 years had a higher average degree of mineralization than females, the opposite was true of the older age group. Mineralization significantly decreased between middle and older age groups in males, but not in females. Despite limited consistencies in the ___location of high and low average mineralization bone through the cortex, the degree of interindividual variation, even within a single age and sex group, overwhelmed population level trends. The patterns of variability identified in this study are consistent with results of an analysis of collagen fibre orientation using the same sample material.

The scientific working group on DNA analysis Methods (SWGDAM) mitochondrial DNA (mtDNA) population data set is used to infer the relative rarity of control region mtDNA profiles obtained from evidence samples and of profiles used for identification of missing persons. In this study, the African American haplogroup patterns in the SWGDAM data were analyzed in a phylogenetic context to determine relevant single nucleotide polymorphisms (SNPs) and to describe haplogroup distributions for Africans observed in these data sets. Over 200 SNPs (n ¼ 217) were observed in the African American data set (n ¼ 1148). These SNPs ranged from having 1-39 changes in the phylogenetic tree, with sites 152 and 16519 being the most variable. On average there were 5.8 changes for a character on the tree. The most variable sites (with 19 or more changes each) observed included 16093,

Recent analyses indicate that the precuneus is one of the main centres of integration in terms of functional and structural processes within the human brain. This neuroanatomical element is formed by different subregions, involved in visuo-spatial integration, memory and self-awareness. We analysed the midsagittal brain shape in a sample of adult humans (n = 90) to evidence the patterns of variability and geometrical organization of this area. Interestingly, the major brain covariance pattern within adult humans is strictly associated with the relative proportions of the precuneus. Its morphology displays a marked individual variation, both in terms of geometry (mostly in its longitudinal dimensions) and anatomy (patterns of convolution). No patent differences are evident between males and females, and the allometric effect of size is minimal. However, in terms of morphology, the precuneus does not represent an individual module, being influenced by different neighbouring structures. Taking into consideration the apparent involvement of the precuneus in higher-order human brain functions and evolution, its wide variation further stresses the important role of these deep parietal areas in modern neuroanatomical organization.