Morphology and function of the lumbar spine of the Kebara 2 Neandertal

The morphology of the lumbar spine is crucial for upright posture and bipedal walking in hominids. The excellent preservation of the lumbar spine of Kebara 2 provides us a rare opportunity to observe a complete spine and explore its functionally relevant morphology. The lumbar spine of Kebara 2 is analyzed and compared with the lumbar spines of modern humans and late Pleistocene hominids. Although no size differences between the vertebral bodies and pedicles of Kebara 2 and modern humans are found, significant differences in the size and orientation of the transverse processes (L₁‐L₄), and the laminae (L₅, S₁) are demonstrated. The similarity in the size of the vertebral bodies and pedicles of Kebara 2 and modern humans suggests similarity in axial load transmission along the lumbar spine. The laterally projected (L₂‐L₄) and the cranially oriented (L₁, L₃) transverse processes of Kebara 2 show an advantage for lateral flexion of the lumbar spine compared with modern humans. The characteristic morphology of the lumbar spine of Kebara 2 might be related to the wide span of its pelvic bones. Am J Phys Anthropol 142:549–557, 2010. © 2010 Wiley‐Liss, Inc.     

The angular distribution of vertebral trabeculae in modern humans,chimpanzees and the Kebara 2 Neanderthal

Bone is known to remodel to optimize its structure according to its mechanical environment. In particular trabecular arcades are thought to align with the orientations of components of principal strain. This paper presents the application of a novel method for quantifying trabecular orientation to test the hypothesis that hominoid posture and locomotion are reflected in trabecular architecture. Lateral radiographs were taken of vertebrae from the entire thoracolumbar spines of eight modern humans, seven Pan troglodytes and one Neanderthal. The radiographs were digitized and a square region of interest located at the centre of each vertebral body selected. Fourier transforms of the regions of interest were performed and the relative magnitude of the transform in each of 16 angular segments calculated. The simple indices of external vertebral body morphology, wedge angle and aspect ratio, were also calculated from the radiographs.All three species exhibit the same pattern, with the majority of trabeculae oriented either axially or dorsoventrally. This suggests that vertebral mechanical loading is similar in chimpanzees and humans, despite their apparent postural and locomotor differences. Significant differences between the magnitudes of the Fourier transform in the 78.75 degrees and 135 degrees orientations of chimpanzee and human vertebrae were observed in all but the upper thoracic spine. As the magnitudes at these orientations in the Neanderthal correspond more closely to that in the human and the orientational features were unrelated to the external vertebral morphology, the difference between the two magnitudes may well prove to be a useful parameter in future phylogenetic analysis. Modern human spines were found to show a greater variation in the proportions of axial and dorsoventral trabeculae with spinal level than chimpanzees, with the greatest differences observed in the upper thoracic spine and thoracolumbar junction, suggesting an association with postural spinal curves.     

Bitter taste perception in Neanderthals through the analysis of the TAS2R38 gene

The bitter taste perception (associated with the ability or inability to taste phenylthiocarbamide) is mediated by the TAS2R38 gene. Most of the variation in this gene is explained by three common amino-acid polymorphisms at positions 49 (encoding proline or alanine), 262 (alanine or valine) and 296 (valine or isoleucine) that determine two common isoforms: proline–alanine–valine (PAV) and alanine–valine–isoleucine (AVI). PAV is the major taster haplotype (heterozygote and homozygote) and AVI is the major non-taster haplotype (homozygote). Amino acid 49 has the major effect on the distinction between tasters and non-tasters of all three variants. The sense of bitter taste protects us from ingesting toxic substances, present in some vegetables, that can affect the thyroid when ingested in large quantities. Balancing selection has been used to explain the current high non-taster frequency, by maintaining divergent TAS2R38 alleles in humans. We have amplified and sequenced the TAS2R38 amino acid 49 in the virtually uncontaminated Neanderthal sample of El Sidrón 1253 and have determined that it was heterozygous. Thus, this Neanderthal was a taster individual, although probably slightly less than a PAV homozygote. This indicates that variation in bitter taste perception pre-dates the divergence of the lineages leading to Neanderthals and modern humans.     

ABO Genetic Variation in Neanderthals and Denisovans

Variation at the ABO locus was one of the earliest sources of data in the study of human population identity and history, and to this day remains widely genotyped due to its importance in blood and tissue transfusions. Here, we look at ABO blood type variants in our archaic relatives: Neanderthals and Denisovans. Our goal is to understand the genetic landscape of the ABO gene in archaic humans, and how it relates to modern human ABO variation. We found two Neanderthal variants of the O allele in the Siberian Neanderthals (O1 and O2), one of these variants is shared with an European Neanderthal, who is a heterozygote for this O1 variant and a rare cis-AB variant. The Denisovan individual is heterozygous for two variants of the O1 allele, functionally similar to variants found widely in modern humans. Perhaps more surprisingly, the O2 allele variant found in Siberian Neanderthals can be found at low frequencies in modern Europeans and Southeast Asians, and the O1 allele variant found in Siberian and European Neanderthal is also found at very low frequency in modern East Asians. Our genetic distance analyses suggest both alleles survive in modern humans due to inbreeding with Neanderthals. We find that the sequence backgrounds of the surviving Neanderthal-like O alleles in modern humans retain a higher sequence divergence than other surviving Neanderthal genome fragments, supporting a view of balancing selection operating in the Neanderthal ABO alleles by retaining highly diverse haplotypes compared with portions of the genome evolving neutrally.     

Facial ontogeny in Neanderthals and modern humans

One hundred and fifty years after the discovery of Neanderthals, it is held that this morphologically and genetically distinct human species does not differ from modern Homo sapiens in its craniofacial ontogenetic trajectory after the early post-natal period. This is striking given the evident morphological differences between these species, since it implies that all of the major differences are established by the early post-natal period and carried into adulthood through identical trajectories, despite the extent to which mechanical and spatial factors are thought to influence craniofacial ontogeny. Here, we present statistical and morphological analyses demonstrating that the spatio-temporal processes responsible for craniofacial ontogenetic transformations differ. The findings emphasize that pre-natal as well as post-natal ontogeny are both important in establishing the cranial morphological differences between adult Neanderthals and modern humans.     

Epistasis and Its Implications for Personal Genetics

The widespread availability of high-throughput genotyping technology has opened the door to the era of personal genetics, which brings to consumers the promise of using genetic variations to predict individual susceptibility to common diseases. Despite easy access to commercial personal genetics services, our knowledge of the genetic architecture of common diseases is still very limited and has not yet fulfilled the promise of accurately predicting most people at risk. This is partly because of the complexity of the mapping relationship between genotype and phenotype that is a consequence of epistasis (gene-gene interaction) and other phenomena such as gene-environment interaction and locus heterogeneity. Unfortunately, these aspects of genetic architecture have not been addressed in most of the genetic association studies that provide the knowledge base for interpreting large-scale genetic association results. We provide here an introductory review of how epistasis can affect human health and disease and how it can be detected in population-based studies. We provide some thoughts on the implications of epistasis for personal genetics and some recommendations for improving personal genetics in light of this complexity.     

Allelic Diversity and Its Implications for the Rate of Adaptation

Genetic variation is usually estimated empirically from statistics based on population gene frequencies, but alternative statistics based on allelic diversity (number of allelic types) can provide complementary information. There is a lack of knowledge, however, on the evolutionary implications attached to allelic-diversity measures, particularly in structured populations. In this article we simulated multiple scenarios of single and structured populations in which a quantitative trait subject to stabilizing selection is adapted to different fitness optima. By forcing a global change in the optima we evaluated which diversity variables are more strongly correlated with both short- and long-term adaptation to the new optima. We found that quantitative genetic variance components for the trait and gene-frequency-diversity measures are generally more strongly correlated with short-term response to selection, whereas allelic-diversity measures are more correlated with long-term and total response to selection. Thus, allelic-diversity variables are better predictors of long-term adaptation than gene-frequency variables. This observation is also extended to unlinked neutral markers as a result of the information they convey on the demographic population history. Diffusion approximations for the allelic-diversity measures in a finite island model under the infinite-allele neutral mutation model are also provided.     

Young Children Understand the Normative Implications of Future-Directed Speech Acts

Much recent research has shown that the capacity for mental time travel and temporal reasoning emerges during the preschool years. Nothing is known so far, however, about young children''s grasp of the normative dimension of future-directed thought and speech. The present study is the first to show that children from age 4 understand the normative outreach of such future-directed speech acts: subjects at time 1 witnessed a speaker make future-directed speech acts about/towards an actor A, either in imperative mode (“A, do X!”) or as a prediction (“the actor A will do X”). When at time 2 the actor A performed an action that did not match the content of the speech act at time 1, children identified the speaker as the source of a mistake in the prediction case, and the actor as the source of the mistake in the imperative case and leveled criticism accordingly. These findings add to our knowledge about the emergence and development of temporal cognition in revealing an early sensitivity to the normative aspects of future-orientation.     

Nonhuman primate hybridization and the taxonomic status of Neanderthals

The present study examines the taxonomic status of Middle Paleolithic Neanderthals by comparing their observed minimum genetic divergence from Upper Paleolithic modern humans in Europe with that observed between macaque species from Sulawesi that are known to hybridize and fully intergrade in the wild. The genetic divergence, and differentiation between Neanderthals and Upper Paleolithic modern humans, as indicated by pairwise minimum genetic distances and F(ST) values calculated from the estimated minimum genetic relationship (R) matrix derived from craniometric data, are significantly greater than those observed both between hybridizing and noninterbreeding Sulawesi macaque species, suggesting that mate recognition and the possibility of gene flow between Neanderthals and Upper Paleolithic modern humans might have been greatly reduced. These results support a species-level taxonomic distinction for the Neanderthals as suggested by proponents of the replacement model. Furthermore, assumptions regarding the monophyletic origin of modern humans from outside Europe are likely valid.     

Browridge structure and function in extant primates and Neanderthals

The structural characteristics of the supraorbital ridge in three extent primate species and fossil Neanderthals are described in this study. Surface morphology and patterns of trabecular organization as observed in cross-sectional collections of Papio, Macaca and Pan are compared with similar traits encountered in the Pech de l'Aze infant, Gibraltar child, and La Quina 5, La Chapelle-aux-Saints, Broken Hill, Skhul V, Skhul IX, Tabun I and Gibraltar adult Neanderthals. Periods of rapid appositional growth of the browridges by means of fine cancellous bone formation and its subsequent remodeling and consolidation are temporally correlated with dental development and eruption sequences.     

Visual Speech Perception in Foveal and Extrafoveal Vision: Further Implications for Divisions in Hemispheric Projections

When observing a talking face, it has often been argued that visual speech to the left and right of fixation may produce differences in performance due to divided projections to the two cerebral hemispheres. However, while it seems likely that such a division in hemispheric projections exists for areas away from fixation, the nature and existence of a functional division in visual speech perception at the foveal midline remains to be determined. We investigated this issue by presenting visual speech in matched hemiface displays to the left and right of a central fixation point, either exactly abutting the foveal midline or else located away from the midline in extrafoveal vision. The location of displays relative to the foveal midline was controlled precisely using an automated, gaze-contingent eye-tracking procedure. Visual speech perception showed a clear right hemifield advantage when presented in extrafoveal locations but no hemifield advantage (left or right) when presented abutting the foveal midline. Thus, while visual speech observed in extrafoveal vision appears to benefit from unilateral projections to left-hemisphere processes, no evidence was obtained to indicate that a functional division exists when visual speech is observed around the point of fixation. Implications of these findings for understanding visual speech perception and the nature of functional divisions in hemispheric projection are discussed.     

Variation in Lithic Technological Strategies among the Neanderthals of Gibraltar

The evidence for Neanderthal lithic technology is reviewed and summarized for four caves on The Rock of Gibraltar: Vanguard, Beefsteak, Ibex and Gorham’s. Some of the observed patterns in technology are statistically tested including raw material selection, platform preparation, and the use of formal and expedient technological schemas. The main parameters of technological variation are examined through detailed analysis of the Gibraltar cores and comparison with samples from the classic Mousterian sites of Le Moustier and Tabun C. The Gibraltar Mousterian, including the youngest assemblage from Layer IV of Gorham’s Cave, spans the typical Middle Palaeolithic range of variation from radial Levallois to unidirectional and multi-platform flaking schemas, with characteristic emphasis on the former. A diachronic pattern of change in the Gorham’s Cave sequence is documented, with the younger assemblages utilising more localized raw material and less formal flaking procedures. We attribute this change to a reduction in residential mobility as the climate deteriorated during Marine Isotope Stage 3 and the Neanderthal population contracted into a refugium.     

Purine Metabolism in Pigs and Humans and Its Implications for Xenotransplantation

We compared concentrations of nucleotide substrates and activities of enzymes of nucleotide metabolism in pig and human blood, heart, and kidney. The most important difference was lower ecto-5′-nucleotidase (E5′N) activity in both pig hearts and kidney. Furthermore, higher hypoxanthine, inosine, adenine, and uracil, but lower uridine and uric acid concentrations were observed in pig blood as compared to human. A twofold increase in UTP concentration has been observed in pig hearts following 4 h perfusion with human blood. Purine metabolism is an important target for genetic and pharmacological manipulation during xenotransplantations.     

Bacteriology of the Gut and Its Clinical Implications

The bacteriology of the gastrointestinal tract is rapidly changing in laboratory techniques and clinical correlations. The flora is found to be very complex, predominantly anaerobic, and importantly dependent on diet. An etiologic role for colon bacteria in colon cancer is suggested by correlations between epidemiologic data and prevalent dietary patterns and stool culture findings. Cultures from aspiration pneumonia, subphrenic abscess, and other intra-abdominal sepsis all yield anaerobes, and for best results antibiotic therapy should combat them as well as aerobes.