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Human Variation (human + variation)
Selected AbstractsHuman Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling GenesALCOHOLISM, Issue 5 2010Geoff Joslyn Background:, Alcohol use disorders (AUD) exhibit the properties shared by common conditions and diseases classified as genetically complex. The etiology of AUDs is heterogeneous involving mostly unknown interactions of environmental and heritable factors. A person's level of response (LR) to alcohol is inversely correlated with a family history and the development of AUDs. As an AUD endophenotype, alcohol LR is hypothesized to be less genetically complex and closer to the primary etiology of AUDs. Methods:, A genome wide association study (GWAS) was performed on subjects characterized for alcohol LR phenotypes. Gene Set Enrichment Analysis (GSEA) of the GWAS data was performed to determine whether, as a group, genes that participate in a common biological function (a gene set) demonstrate greater genetic association than would be randomly expected. Results:, The GSEA analysis implicated variation in neuronal signaling genes, especially glutamate signaling, as being involved in alcohol LR variability in the human population. Conclusions:, These data, coupled with cell and animal model data implicating neuronal signaling in alcohol response, support the conclusion that neuronal signaling is mechanistically involved in alcohol's cellular and behavioral effects. Further, these data suggest that genetic variation in these signaling pathways contribute to human variation in alcohol response. Finally, this concordance of the cell, animal, and human findings supports neuronal signaling, particularly glutamate signaling, as a prime target for translational studies to understand and eventually modulate alcohol's effects. [source] Skeletal Estimation and Identification in American and East European Populations,JOURNAL OF FORENSIC SCIENCES, Issue 3 2008Erin H. Kimmerle Ph.D. Abstract:, Forensic science is a fundamental transitional justice issue as it is imperative for providing physical evidence of crimes committed and a framework for interpreting evidence and prosecuting violations to International Humanitarian Law (IHL). The evaluation of evidence presented in IHL trials and the outcomes various rulings by such courts have in regard to the accuracy or validity of methods applied in future investigations is necessary to ensure scientific quality. Accounting for biological and statistical variation in the methods applied across populations and the ways in which such evidence is used in varying judicial systems is important because of the increasing amount of international forensic casework being done globally. Population variation or the perceived effect of such variation on the accuracy and reliability of methods is important as it may alter trial outcomes, and debates about the scientific basis for human variation are now making their way into international courtrooms. Anthropological data on population size (i.e., the minimum number of individuals in a grave), demographic structure (i.e., the age and sex distribution of victims), individual methods applied for identification, and general methods of excavation and trauma analysis have provided key evidence in cases of IHL. More generally, the question of population variation and the applicability of demographic methods for estimating individual and population variables is important for American and International casework in the face of regional population variation, immigrant populations, ethnic diversity, and secular changes. The reliability of various skeletal aging methods has been questioned in trials prosecuted by the International Criminal Tribunal for the Former Yugoslavia (ICTY) in The Prosecutor of the Tribunal against Radislav Krsti, (Case No. IT-98-33, Trial Judgment) and again in the currently ongoing trial of The Prosecutor of the Tribunal against Zdravko Tolimir, Radivolje Mileti,, Milan Gvero, Vinko Pandurevi,, Ljubisa Beara, Vujadin Popovi,, Drago Nikoli,, Milorad Trbi,, Ljubomir Borovcanin (IT-05-88-PT, Second Amended Indictment). Following the trial of General Krsti,, a collaborative research project was developed between the Forensic Anthropology Center at The University of Tennessee (UT) and the United Nations, International Criminal Tribunal for the Former Yugoslavia, Office of the Prosecutor (ICTY). The purpose of that collaboration was to investigate methods used for the demographic analysis of forensic evidence and where appropriate to recalibrate methods for individual estimation of age, sex, and stature for specific use in the regions of the former Yugoslavia. The question of "local standards" and challenges to the reliability of current anthropological methods for biological profiling in international trials of IHL, as well as the performance of such methods to meet the evidentiary standards used by international tribunals is investigated. Anthropological methods for estimating demographic parameters are reviewed. An overview of the ICTY-UT collaboration for research aimed at addressing specific legal issues is discussed and sample reliability for Balkan aging research is tested. The methods currently used throughout the Balkans are discussed and estimated demographic parameters obtained through medico-legal death investigations are compared with identified cases. Based on this investigation, recommendations for improving international protocols for evidence collection, presentation, and research are outlined. [source] Sexual Dimorphism in America: Geometric Morphometric Analysis of the Craniofacial Region,JOURNAL OF FORENSIC SCIENCES, Issue 1 2008Erin H. Kimmerle Ph.D. Abstract:, One of the four pillars of the anthropological protocol is the estimation of sex. The protocol generally consists of linear metric analysis or visually assessing individual skeletal traits on the skull and pelvis based on an ordinal scale of 1,5, ranging from very masculine to very feminine. The morphologic traits are then some how averaged by the investigator to estimate sex. Some skulls may be misclassified because of apparent morphologic features that appear more or less robust due to size differences among individuals. The question of misclassification may be further exemplified in light of comparisons across populations that may differ not only in cranial robusticity but also in stature and general physique. The purpose of this study is to further examine the effect of size and sex on craniofacial shape among American populations to better understand the allometric foundation of skeletal traits currently used for sex estimation. Three-dimensional coordinates of 16 standard craniofacial landmarks were collected using a Microscribe-3DX digitizer. Data were collected for 118 American White and Black males and females from the W.M. Bass Donated Collection and the Forensic Data Bank. The MANCOVA procedure tested shape differences as a function of sex and size. Sex had a significant influence on shape for both American Whites (F = 2.90; d.f. = 19, 39; p > F = 0.0024) and Blacks (F = 2.81; d.f. = 19, 37; p > F = 0.0035), whereas size did not have a significant influence on shape in either Whites (F = 1.69; d.f. = 19, 39; p > F = 0.08) or Blacks (F = 1.09; d.f. = 19, 37; p > F = 0.40). Therefore, for each sex, individuals of various sizes were statistically the same shape. In other words, while significant differences were present between the size of males and females (males on average were larger), there was no size effect beyond that accounted for by sex differences in size. Moreover, the consistency between American groups is interesting as it suggests that population differences in sexual dimorphism may result more from human variation in size than allometric variation in craniofacial morphology. [source] Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling GenesALCOHOLISM, Issue 5 2010Geoff Joslyn Background:, Alcohol use disorders (AUD) exhibit the properties shared by common conditions and diseases classified as genetically complex. The etiology of AUDs is heterogeneous involving mostly unknown interactions of environmental and heritable factors. A person's level of response (LR) to alcohol is inversely correlated with a family history and the development of AUDs. As an AUD endophenotype, alcohol LR is hypothesized to be less genetically complex and closer to the primary etiology of AUDs. Methods:, A genome wide association study (GWAS) was performed on subjects characterized for alcohol LR phenotypes. Gene Set Enrichment Analysis (GSEA) of the GWAS data was performed to determine whether, as a group, genes that participate in a common biological function (a gene set) demonstrate greater genetic association than would be randomly expected. Results:, The GSEA analysis implicated variation in neuronal signaling genes, especially glutamate signaling, as being involved in alcohol LR variability in the human population. Conclusions:, These data, coupled with cell and animal model data implicating neuronal signaling in alcohol response, support the conclusion that neuronal signaling is mechanistically involved in alcohol's cellular and behavioral effects. Further, these data suggest that genetic variation in these signaling pathways contribute to human variation in alcohol response. Finally, this concordance of the cell, animal, and human findings supports neuronal signaling, particularly glutamate signaling, as a prime target for translational studies to understand and eventually modulate alcohol's effects. [source] Anténor Firmin: Haitian Pioneer of AnthropologyAMERICAN ANTHROPOLOGIST, Issue 3 2000Carolyn Fluehr-Lobban Anténor Firmin published De I'Égalité des Races Humaines in 1885 in Paris as a response both to Arthur de Gobineau's racist tome L'lnégalité des Races (1853-55) and to the racialist anthropology of the nineteenth century. This pioneering work of anthropology has been translated for the first time into English by Assclin Charles as The Equality of the Human Races (Firmin [1885]2000). In 662 pages of the original text, Firmin systematically critiqued the anthropometry and craniometry that dominated the anthropology of his day, while he envisioned a broad, synthetic discipline that would follow once this narrow approach to the study of man was abandoned. He challenged virtually every extant racial myth and laid a basis for the understanding of human variation as adaptation to climate and environment. Contrary to the polygenist doctrines of the infertility of interracial matings, Firmin extolled the value of racial mixture, especially in the vigorous New World hybrid populations. He developed a critical view of racial classifications and of race that foreshadowed much later social constructions of race. In the book he also articulated early Pan-Africanist ideas as well as an analytical framework for what would become postcolonial studies. The Equality of the Human Races is a text that lies historically at the foundations of the birth of the discipline of anthropology, yet it is unknown to the field. It is a pioneering work in critical anthropology that awaits recognition 115 years after it was first published. [Anténor Firmin, history of racism, antiracism, historical texts, Haitian anthropologist, critical anthropology, nineteenth-century pioneer] [source] Contributions of A. Roberto Frisancho to human population biology: An introduction,AMERICAN JOURNAL OF HUMAN BIOLOGY, Issue 5 2009William R. Leonard Over the span of his career, A. Roberto Frisancho has been one of the prime architects of the development and expansion of human population biology. His research and scholarly publications have helped to move the field beyond simple descriptions of human variation to address the nature and evolutionary origins of human biological diversity. Frisancho's early work in the Peruvian Andes elegantly demonstrated the importance of developmental acclimatization for promoting adaptive responses to the multiple stressors of high-altitude environments. Since mid-1970s, he has played a major role in developing and expanding the use of anthropometric techniques for assessing physical growth and nutritional status. Frisancho's influential publications have helped to make the use of anthropometric methods commonplace in the fields of nutritional science and public health. Throughout his career, Frisancho's work has examined how environmental, genetic, and developmental factors interact to influence human health and nutritional status. His research has addressed topics ranging from the determinants of low-birth weight infants in teenage mothers to the origins of obesity and associated metabolic diseases in populations of the developing world. Both the breadth and impact of Frisancho's work have been truly remarkable. The field of human population biology owes much to the tremendous contributions of A. Roberto Frisancho. Am. J. Hum. Biol., 2009. © 2009 Wiley-Liss, Inc. [source] Evolutionary adaptation to high altitude: A view from in utero,AMERICAN JOURNAL OF HUMAN BIOLOGY, Issue 5 2009Colleen Glyde Julian A primary focus within biological anthropology has been to elucidate the processes of evolutionary adaptation. Frisancho helped to move anthropology towards more mechanistic explanations of human adaptation by drawing attention to the importance of the functional relevance of human variation. Using the natural laboratory of high altitude, he and others asked whether the unique physiology of indigenous high-altitude residents was the result of acclimatization, developmental plasticity, and/or genetic adaptation in response to the high-altitude environment. We approach the question of human adaptation to high altitude from a somewhat unique vantage point; namely, by examining physiological characteristics,pregnancy and pregnancy outcome,which are closely associated with reproductive fitness. Here we review the potent example of high-altitude native population's resistance to hypoxia-associated reductions in birth weight, which is often associated with higher infant morbidity and mortality at high altitude. With the exception of two recent publications, these comparative birth weight studies have utilized surnames, self-identification, and/or linguistic characteristics to assess ancestry, and none have linked ,advantageous' phenotypes to specific genetic variations. Recent advancements in genetic and statistical tools have enabled us to assess individual ancestry with higher resolution, identify the genetic basis of complex phenotypes and to infer the effect of natural selection on specific gene regions. Using these technologies our studies are now directed to determine the genetic variations that underlie the mechanisms by which high-altitude ancestry protects fetal growth and, in turn, to further our understanding of evolutionary processes involved in human adaptation to high altitude. Am. J. Hum. Biol., 2009. © 2009 Wiley-Liss, Inc. [source] Causes and effects of human variationAMERICAN JOURNAL OF HUMAN BIOLOGY, Issue 6 2002Article first published online: 24 OCT 200, Book Review Editor Joan C. Stevenson No abstract is available for this article. [source] The ontogeny of Holocene and Late Pleistocene human postcranial strengthAMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 1 2010Libby W. Cowgill Abstract While a wide variety of studies have focused on population variation in adult cross-sectional properties, relatively little is known about population variation in postcranial robusticity in immature individuals. Furthermore, the age at which the population differences readily detected in adults manifest during growth is also unknown. This research addresses these gaps in our current understanding through the analysis of immature humeral and femoral long bone strength. Cross-sectional geometry was used to compare the developmental trajectories of diaphyseal strength in Late Pleistocene Neandertal and modern human subadults to a sample of immature humans from seven geographically diverse Holocene populations. Population differences in size-standardized cross-sectional properties appear to be systemic and develop very early in ontogeny in the Holocene sample. In many cases, these differences are present before one year of age. In general, the Late Pleistocene fossil samples fit within the range of recent human variation in long bone strength. Population differences detected here are likely related to a combination of factors including activity patterns, genetic propensities, and nutritional status. These results highlight the complex mosaic of processes that result in adult postcranial robusticity, and suggest that further exploration of the developmental interplay between intrinsic and extrinsic influences on skeletal robusticity will likely enhance our understanding of adult postcranial morphology. Am J Phys Anthropol 2010. © 2009 Wiley-Liss, Inc. [source] Race reconciled?: How biological anthropologists view human variationAMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 1 2009Heather J.H. Edgar First page of article [source] 1918: Three perspectives on race and human variationAMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 1 2009Rachel Caspari Abstract Race was an important topic to the physical anthropologists of 1918, but their views were not monolithic. Multiple perspectives on race are expressed in the first volume of the AJPA, which encompass biological determinism and assumptions about evolutionary processes underlying the race concept. Most importantly, many of the significant alternative approaches to the study of human variation were already expressed in 1918. This paper examines race from the different perspectives of three key contributions to the first volume of the AJPA: papers from Hrdli,ka, Hooton, and Boas. The meaning of race derived from this work is then discussed. Despite new understandings gained through the neo-Darwinian synthesis and the growth of genetics, the fundamentals of the modern discussions of race were already planted in 1918. Am J Phys Anthropol 2009. © 2009 Wiley-Liss, Inc. [source] Biohistorical approaches to "race" in the United States: Biological distances among African Americans, European Americans, and their ancestors,AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 1 2009Heather J.H. Edgar Abstract Folk taxonomies of race are the categorizations used by people in their everyday judgments concerning the persons around them. As cultural traditions, folk taxonomies may shape gene flow so that it is unequal among groups sharing geography. The history of the United States is one of disparate people being brought together from around the globe, and provides a natural experiment for exploring the relationship between culture and gene flow. The biohistories of African Americans and European Americans were compared to examine whether population histories are shaped by culture when geography and language are shared. Dental morphological data were used to indicate phenotypic similarity, allowing diachronic change through United States history to be considered. Samples represented contemporary and historic African Americans and European Americans and their West African and European ancestral populations (N = 1445). Modified Mahalanobis' D2 and Mean Measure of Divergence statistics examined how biological distances change through time among the samples. Results suggest the social acceptance for mating between descendents of Western Europeans and Eastern and Southern European migrants to the United States produced relatively rapid gene flow between the groups. Although African Americans have been in the United States much longer than most Eastern and Southern Europeans, social barriers have been historically stronger between them and European Americans. These results indicate that gene flow is in part shaped by cultural factors such as folk taxonomies of race, and have implications for understanding contemporary human variation, relationships among prehistoric populations, and forensic anthropology. Am J Phys Anthropol 2009. © 2009 Wiley-Liss, Inc. [source] Understanding race and human variation: Why forensic anthropologists are good at identifying raceAMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 1 2009Stephen Ousley Abstract American forensicanthropologists uncritically accepted the biological race concept from classic physical anthropology and applied it to methods of human identification. Why and how the biological race concept might work in forensic anthropology was contemplated by Sauer (Soc Sci Med 34 1992 107,111), who hypothesized that American forensic anthropologists are good at what they do because of a concordance between social race and skeletal morphology in American whites and blacks. However, Sauer also stressed that this concordance did not validate the classic biological race concept of physical anthropology that there are a relatively small number of discrete types of human beings. Results from Howells (Papers of the Peabody Museum of Archaeology and Ethnology 67 1973 1,259; Papers of the Peabody Museum of Archaeology and Ethnology 79 1989 1,189; Papers of the Peabody Museum of Archaeology and Ethnology 82 1995 1,108) and others using craniometric and molecular data show strong geographic patterning of human variation despite overlap in their distributions. However, Williams et al. (Curr Anthropol 46 2005 340,346) concluded that skeletal morphology cannot be used to accurately classify individuals. Williams et al. cited additional support from Lewontin (Evol Biol 6 1972 381,398), who analyzed classic genetic markers. In this study, multivariate analyses of craniometric data support Sauer's hypothesis that there are morphological differences between American whites and blacks. We also confirm significant geographic patterning in human variation but also find differences among groups within continents. As a result, if biological races are defined by uniqueness, then there are a very large number of biological races that can be defined, contradicting the classic biological race concept of physical anthropology. Further, our results show that humans can be accurately classified into geographic origin using craniometrics even though there is overlap among groups. Am J Phys Anthropol 2009. © 2009 Wiley-Liss, Inc. [source] How Neandertals inform human variationAMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 1 2009Milford H. Wolpoff Abstract Since their first discovery, Neandertals have served as an out-group for interpreting human variation. Their out-group role has changed over the years because in spite of the fact that Neandertals are the most abundant of all fossil remains (or perhaps because of this) their interpretation is the most controversial of all human fossils. Many believe them to be a different, albeit human-like species, but recent genetic evidence supports anatomical interpretations indicating that interbreeding with other humans was an important aspect of human evolution. The combination of anatomical difference and restricted gene flow between populations suggests the possibility that Neandertals may have been a true human race. Am J Phys Anthropol 2009. © 2009 Wiley-Liss, Inc. [source] Brief communication: High-resolution assessment of the dental developmental pattern and characterization of tooth tissue proportions in the late Upper Paleolithic child from La Madeleine, FranceAMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 4 2009Priscilla Bayle Abstract Affinities and differences in dental maturational patterns between modern humans and Neanderthals remain a matter of discussion. In particular, deciduous teeth are rare for Late Pleistocene humans, and few entire sequences have been detailed for their developmental status. Here, we report the results from the 3D virtual reconstruction and structural analysis of the deciduous lower dentition (nine teeth in situ) of the child from La Madeleine (LM4), France, the first Upper Paleolithic specimen detailed so far by means of high-resolution microtomography (,CT). With respect to the modern dental developmental standards, age at death of this individual is now more likely estimated within the interval 3,4 years. LM4 lacks the slight discrepancy between a proportionally advanced stage of mineralization of the deciduous first molar and a relatively delayed maturational level of the incisors, which is found in Neanderthals (Bayle et al.: J Hum Evol 56 [2009] 66,75). By using a Bayesian approach, we calculated the probability that its maturational sequence is found within the extant human variation as represented by a tomographic (CT) reference sample of 45 children scored according to the same protocol (Liversidge and Molleson: Am J Phys Anthropol 123 [2004] 172,180). Results show that the specific sequence of this Magdalenian individual is found three times in the comparative sample included in this study. LM4 absolute tooth size and relative dental tissue proportions are close to the modern human figures (characterized by proportionally reduced dentine volumes) and lie systematically below the values shown by the Neanderthal child from Roc de Marsal, France (OIS 5a). Am J Phys Anthropol 2009. © 2009 Wiley-Liss, Inc. [source] The bipedalism of the Dmanisi hominins: Pigeon-toed early Homo?AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 4 2008Ian J. Wallace Abstract In the recent description of the hominin postcranial material from Dmanisi, Georgia, Lordkipanidze and colleagues (Lordkipanidze et al. [2007] Nature 449: 305,310) claim that the Dmanisi hominins walked with more medially oriented feet than do modern humans. They draw this functional inference from two postcranial features: a wide talar neck angle and a slight medial torsion of the tibia. However, we believe that the data provided by the authors fail to support their conclusions. Talar neck angle and tibial torsion values from the Dmanisi specimens fall comfortably within the range of modern human variation. We further submit that foot orientation cannot be reliably deduced from the tibia and talus alone. Am J Phys Anthropol, 2008. © 2008 Wiley-Liss, Inc. [source] Unique ramus anatomy for Neandertals?AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 2 2005Milford H. Wolpoff Abstract The ramus of Neandertal mandibles is said to show a suite of uniquely Neandertal character states that demonstrate the independent course of Neandertal evolution. This is the latest of numerous attempts to define cranial and mandibular autapomorphies for Neandertals. We examine variation in the four presumably autapomorphic ramal features and show they are neither monomorhic within Neandertals (to the contrary Neandertals are at least as variable as other human samples) nor unique to Neandertals, since they regularly appear in populations predating and postdating them. Neandertals differ from other human populations, both contemporary and recent, but the question of whether this fact reflects a divergent evolutionary trajectory must be addressed by the pattern of differences. In this case, as in the other attempts to establish Neandertal autapomorphies, rather than showing restricted variation and increased specialization, the Neandertal sample shows that the range of human variation in the recent past encompasses, and in some cases exceeds, human variation today, even in the very features claimed to be autapomorphic. Am J Phys Anthropol, 2005. © 2005 Wiley-Liss, Inc. [source] Skeletal age, dental age, and the maturation of KNM-WT 15000AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 2 2004Shelley L. Smith Abstract The skeleton of the Homo erectus boy from West Lake Turkana, Kenya (KNM-WT 15000), is remarkably complete, and this individual has thus provided a case study for several researchers examining Homo erectus growth. Using data from a longitudinal study of Montreal French-Canadian children, it is shown that while dental and skeletal ages match reasonably well at the level of a sample of children, individuals can display differences between skeletal and dental ages of 2 years or more. Furthermore, the relationship between these two markers may change over time in individual children. It is also possible to find children with patterns of dental maturation similar to KNM-WT 15000's pattern in the Montreal sample. Therefore, neither the discrepancy between skeletal age and dental age alone nor the pattern of dental maturation as assessed by dental stages precludes a human-like pattern of growth, including an adolescent growth spurt, for this individual. Some indicators (e.g., estimated body size for predicted age, and enamel formation) do suggest possible growth-patterning differences from modern humans, and therefore earlier maturation is a reasonable hypothesis, but caution is warranted, given the large degree of modern human variation in developmental markers and the inherent uncertainty in precise estimation of KNM-WT 15000's maturational parameters. Am J Phys Anthropol, 2004. © 2004 Wiley-Liss, Inc. [source] | ||||||||||