Düsseldorf, Universiẗat, Diss., 2004. / Erscheinungsjahr an der Haupttitelstelle: 2003.

Human populations evolved throughout the Old World for over 1 million years. However, anatomical characteristics of modern humans are thought to have evolved only in Africa in the last 200 thousand years. To this day, the extent to which archaic human populations contributed to the modern human gene pool is largely unknown. This work explores the evidence of genetic contribution from archaic populations at two loci in chromosome 12. Two different archaic humans, Neandertal and Denisova, living respectively in West Eurasia and in East Asia, have been indicated as potential contributors to anatomically modern human populations outside of Africa. This research shows the presence in non-Africans of two distinct introgressive alleles from archaic populations at the immune genes OAS1 and STAT2. In addition to the detection of patterns of genetic variation previously proposed as indicators of genetic introgression from archaic populations, it was possible to use the sequence of archaic individuals to infer a recent common ancestry between the introgressive modern allele and the archaic sequences. The analysis of genetic variation at the genomic region containing the gene STAT2 shows the presence of introgressive Neandertal-like and Denisova-like haplotypes. The elevated frequency in Melanesian populations of the haplotype introgressive from Neandertals suggests that this haplotype has been adaptive in Melanesians (APPENDIX B). A haplotype of the gene OAS1, nearly restricted to Melanesian populations, provides evidence of introgression from a population with genetic affinities to Denisova. The introgressive haplotype carries non-synonymous variants predicted to have functional significance and a block of very deep divergence with the remaining modern sequences (APPENDIX A). A second haplotype, observed mostly in Eurasian populations, shows evidence of having introgressed recently from Neandertals. The Neandertal-like haplotype also contains a block with very deep divergence with the remaining modern sequences (APPENDIX C). Blocks of very deep divergence within introgressive haplotypes suggest an important role of ancient population structure in the evolution of humans.

There is variation in Neandertal permanent dentition in both the size and shape of first molars. Ecogeography as well as chronology would be expected to account for at least some of the variation observed. Occlusal outlines of maxillary and mandibular first molar casts from European Neandertals, (Spy 1, Scladina 4A-4, Engis 2, l’Hortus 2, 4, 5, and 8, La Quina H5, Malarnaud 1) were generated through photostereomicroscopy and non-landmark smooth tracing methods, and occlusal areas, buccolingual breadths and mesiolingual lengths were measured by calibrated Motic 3.0MP microscope cameras. Principal component (PC) scores of elliptical Fourier harmonic descriptors were calculated using SHAPE v1.3, yielding a total of 76 and 67 PC scores for mandibular and maxillary data respectively. Of the maxillary outlines analyzed, a strong correlation exists between PC1 (58.4% of variance) and occlusal area, explaining size influence. On PC1, the smallest (Engis 2), is followed by Scladina 4A-A, Hortus 8, La Quina 5 and Spy 1. On PC2 (23% of variance), Scladina 4A-A is an outlier. On PC3 (12.6%), Hortus 8 is separated from the others whereas Scladina 4A-A is difficult to classify. PC4 accounts for 5.8% of the variance and separates Spy 1 from La Quina 5. Spy 1 appears as distinct on PC1, PC3, and PC4 while Scladina 4A-A is relatively distinct on all axes. In a cluster analysis of PC scores Spy 1 and La Quina 5 are linked by the shortest distance and joined secondarily to Hortus 8, whereas Scladina 4A-A and Engis 2 are relatively distinct from the others. Mandibular results indicate that Malarnaud is distinct on PC1 (40% of variance) and again on PC2 (27%), while La Quina 5 appears as slightly distinct on PC3 (14%), though grouped with Engis 2, while Hortus 2 and 4 group together this axis as well as PC1. PC4 (12%) again separates Malarnaud, and presents Hortus 5 as an outlier. Overall, chronology correlates better than geography to the variance observed in occlusal first molar shape in these European Neandertals, with some inconsistencies most likely due to individual biological variability. This study demonstrates a new method to compute the elliptical Fourier descriptors of molar occlusal outlines, and applies these to explain variation in these Neandertals with respect to ecogeographic and chronological situation.

Features of the infraorbital region, such as infraorbital surface topography, infraorbital surface orientation, and curvature of the zygomaticoalveolar crest, have long played a prominent role in phylogenetic analyses of Homo. However, there is currently considerable debate regarding the phylogenetic reliability of infraorbital characters, as numerous researchers have questioned the degree to which these features are morphologically independent of one another and facial size. These questions largely stem from methodological limitations for accurately quantifying the curvilinear morphology of the infraorbital surface and zygomaticoalveolar crest, which have significantly impeded the ability to discern patterns of infraorbital integration and allometry. In this study, infraorbital surface and zygomaticoalveolar crest morphology are precisely assessed, through geometric morphometric methodologies well-suited for quantifying complex curvilinear structures, in a large sample of fossil (n = 71) and recent Homo (n = 303). Once quantified, measures of infraorbital surface topography, infraorbital surface orientation and zygomaticoalveolar crest curvature are further evaluated for intercorrelation and allometry in order to more fully evaluate the morphological independence of commonly cited infraorbital characters. The results of this study indicate that most aspects of infraorbital surface topography, infraorbital surface orientation and zygomaticoalveolar crest curvature are significantly correlated with facial size across Homo. Moreover, certain aspects of infraorbital shape, such the degree of infraorbital surface depression and the overall curvature of the zygomaticoalveolar crest, appear to show additional, size-independent, intercorrelations, suggesting they form a singular "infraorbital complex." In light of these results, the use of infraorbital characters as separate independent characters in phylogenetic assessments of Homo is called into question, while the importance of facial size in human craniofacial evolution is further highlighted.

Le gisement moustérien des Pradelles (Marillac-le-Franc, Charente, France) a été occupé saisonnièrement par les Néandertaliens en tant que halte de chasse, durant le stade isotopique 4. Il a livré près d’une centaine de restes humains (crâniens, dentaires et des membres) appartenant à au moins sept individus (enfants, adolescents et adultes). Ils présentent des traits morphologiques et des dimensions métriques intégrant la variabilité néandertalienne. Ils nous fournissent ainsi des données supplémentaires quant à la connaissance morphométrique des individus de ce taxon. En outre, certains vestiges présentent à leur surface des modifications anthropiques que l’on retrouve sur les restes de faune du site : impacts de fracturation, stries de découpe et de raclage ... L’étude taphonomique réalisée révèle un transport sélectif des parties du squelette des Néandertaliens sur le gisement ainsi que leur exploitation compatible avec une visée nutritive. / The Mousterian site of Les Pradelles (Marillac-le-Franc, Charente, France) was occupied seasonally by the Neanderthal as hunting camp, during the isotopic stage 4. About a hundred human remains were unearthed (cranial, dental and limbs fragments) belonging to at least seven individuals (children, teenagers and adults). They present morphological features and metric dimensions integrating the Neanderthal variability. Thus, they provide additional data to our morphometric knowledge of the individuals of this taxon. Furthermore, some of these remains present anthropological modifications on their surface, the same that on the faunal remains from the site: percussion impacts, cutmarks, scraping marks ... The taphonomical study realized reveals a selective transport of the Neandertal skeletal parts to the site and their exploitation compatible with nutritive aim. / El yacimiento musteriense de Les Pradelles (Marillac-le-Franc, Charente, Francia) ha sido ocupado temporadamente por los Neandertales como alto de caza, durante el estadio isotópico 4. Entregó un centenar restos humanos (craneanos, dentarios y de los miembros) perteneciente a un mínimo de siete individuos (niños, adolescentes y adultos). Presentan rasgos morfológicos y dimensiones métricas que integran la variabilidad de Neandertal. Así nos proporcionan datos suplementarios en cuanto al conocimiento morfometrico de este taxón. Además, un cierto número de estos vestigios presenta en su superficie modificaciones antrópicas que se encuentran en los restos de fauna del sitio: impactos de fracturación, estrías de recorte y de raspado... El estudio tafonómico realizado revela un transporte selectivo de las partes del esqueleto de los Neandertales en el yacimiento así como su explotación compatible con un objetivo nutritivo.

Variation in the shape and position of the internal nasal floor relative to the lower border of the piriform aperture in the genus Homo has been described as having three primary shape configurations: level, sloped, or depressed. The high frequency of depressed nasal floors among Neandertals relative to other fossil and extant groups (>80%) had originally led to the idea that nasal floor depression was related to an overall enlarged nasal capsule - an adaptive feature that would have been under selection among Neandertals living in cold, glacial climates. For a variety of reasons, subsequent research has found little empirical or theoretical support for this adaptive idea. Recent research on extant humans has also demonstrated that nasal floor shape variation, unlike many other midfacial traits, does not arise until well after birth, with nasal floor depression (when it occurs) appearing at the earliest around 3.0 years of age. Furthermore, nasal floor depression was also shown to correspond with a vertically expanded premaxillary region. Thus, it was hypothesized that nasal floor depression might be related to variation in key developmental and morphological aspects of the anterior maxillary dentition. This study metrically quantifies nasal floor topography for the first time in order to more objectively examine patterns of shape variation and to test explicit hypotheses regarding potential causative factors for nasal floor variation. The variables examined include anterior tooth dimensions, dental developmental rate, aspects of midfacial shape, overall facial size, and patterns of premaxillary/post-maxillary integration. It was found that among these, only dental developmental rate was clearly correlated with internal nasal floor shape. This result indicates that aspects of anterior dental development may indeed be a causative factor in the development of nasal floor shape variation. The existing visual discrete coding system for nasal floor topography was also evaluated in light of the new, quantitative data produced by this study as well as a critical comparison of the consistency of nasal floor topography definitions used previously in the literature. While it is suggested that quantitative data are preferable to qualitative data for this trait when possible, limitations in research methods for collecting quantitative data on osteological and fossil collections remain difficult to overcome. Thus a new, two-category presence/absence based system for describing nasal floor shape is proposed.

Au coeur du stade isotopique 3, le Châtelperronien est vu comme la dernière manifestation culturelle desnéandertaliens en France et dans le nord de l’Espagne. Ce technocomplexe est défini comme « de transition »avec un monde nouveau, celui du Paléolithique supérieur, dont l’artisan est l’Homme anatomiquement moderne.Il n’est cependant connu que par un nombre restreint de sites, souvent fouillés anciennement, et sur lesquelsplanent des soupçons de mélanges. Afin de mieux définir cette industrie, nous proposons ici d'en documenter lavariabilité, par le biais de l'analyse taphonomique et techno-économique de trois séries lithiques aquitaines deplein-air : le Basté (Pyrénées-Atlantiques), Bidart (Pyrénées-Atlantiques) et Canaule II (Dordogne).Intégrés à une synthèse bibliographique critique mobilisant les autres collections châtelperroniennes, nosrésultats confirment la forte unité technique du Châtelperronien, probablement symptomatique d’une unitéculturelle forte, tant dans les modalités que dans les objectifs de la production lithique. L’équipement lithique estorienté vers l’obtention de lames plutôt larges et courtes, de profil rectiligne, principalement dévolues à lafabrication de pointes ou couteaux de Châtelperron. La forte unité morphométrique de ces dernières, ajouté à laremise en cause de la réalité d'une composante moustérienne au sein de ces séries, annihilent l’idée d'unevariabilité diachronique ou géographique du Châtelperronien, qui à ce titre ne peut plus être défini comme uneindustrie de "transition" au sens propre du terme, mais bien comme un technocomplexe pleinement paléolithiquesupérieur.A une échelle plus vaste, le processus ayant conduit à sa formation semble reposer sur la place prépondérantedonnée à la recherche de pointes lithiques légères et potentiellement utilisées comme armatures. Ce processus estcomparable à celui en action, à la même période et dans le reste de l'Europe occidentale, au sein des autrestechnocomplexes dits de "transition".Ces résultats rejoignent ainsi l’idée d’une apparition graduelle et géographiquement contrastée des élémentsstructurants du Paléolithique supérieur, dont certains sont déjà en oeuvre bien avant l'émergence de l'Aurignacien(production laminaire, rôle prépondérant des armatures au sein des équipements lithiques, industrie en matièredure animale). Ils contribuent donc à estomper l'image de rupture communément admise pour cette périodecharnière dans l'histoire de l'humanité. / The Chatelperronian, dating to MIS 3, represents the final expression of the Neanderthals in France and northernSpain. This techno-complex has been defined as the transition to the new world of the Upper Palaeolithic whichis associated with anatomically modern humans. However, this industry is known from only a few recentlyanalysed collections. This work documents the variability of this techno-complex by way of a taphonomic andtechno-economic analysis of three open-air sites from the Aquitaine region: Le Basté (Pyrénées-Atlantique),Bidart (Pyrénées-Atlantique), and Canaule II (Dordogne).These results are integrated with a bibliographic synthesis which considers other Chatelperronian assemblagesbased on their analytical value. The substantial technical unity of the Chatelperronian is confirmed and is likelyindicative of an equally substantial cultural unity expressed in the modes and objectives of an almost exclusivelylaminar lithic production system. These generally short and wide blades with rectilinear profiles were detachedusing soft-stone hammer percussion and were mainly designed for the manufacture of Chatelperronian points.Furthermore, the considerable morphometric unity of these pieces, coupled with the doubt cast upon the realityof a Mousterian component of this industry, calls into question the idea of an internal evolution.The Chatelperronian, in the absence of a cultural composite in associated chaînes opératoires, can no longer bedefined as a ‘transitional’ industry in the literal sense of the term.Nevertheless, its formation seems to be have been driven by the desire for lightweight lithic points that werepotentially employed as armatures. This process is comparable with those seen during the same period across therest of Western Europe with other ‘transitional’ techno-complexes.This work therefore aligns itself with the idea of a gradual appearance of the elements structuring the UpperPalaeolithic of which certain features were already in place well before the emergence of the Aurignacian(laminar production, the predominant role of armatures in the lithic tool-kit, and the presence of bone and antlerartefacts). Our conclusions chip away at the commonly accepted image of a rupture during this pivotal period inthe history of humanity.

The occipital bun, a distinctive convexity of the occipital squama, is often considered to be a uniquely derived Neandertal trait. Some scholars, however, consider the occipital morphology found in some early modern and extant human crania (often described as “hemi-buns”) to be homologous with Neandertal occipital buns. A number of hypotheses have been proposed to explain occipital bun/hemi-bun development, including neck muscle function, head carriage, brain growth timing, and cranial base cartilage growth timing, as well as braincase and facial integration. The feature, however, has never before been metrically quantified in a large subadult sample or studied in a well-documented growth series. The primary goal of this dissertation, therefore, was to assess hemi-bun growth and development in a combined comparative sample of extant humans amassed from the following growth series: the University of Toronto Burlington Growth Study, the Iowa Facial Growth Study, the Oregon Growth Study, the University of Oklahoma Denver Growth Study, the Wright State University Fels Longitudinal Study, and the Michigan Growth Study. Cephalograms from these studies facilitated the collection of longitudinal cranial growth and development data. In total, measurements were collected from 468 cephalograms representing 16 males and 10 females. Measured subjects represented the ends of the range of variation in adult midsagittal occipital bone shape, including subjects with defined hemi-buns, as well as subjects lacking all evidence of hemi-bun morphology. Frontal and lateral cephalograms were measured for each subject at 9 age points, spanning from 3.0 to 20.4 years of age. A total of 16 landmarks and 153 sliding semi-landmarks were digitized at each age point. Geometric morphometric analyses, including relative warps analysis and two-block partial least squares analysis, were conducted to assess patterns of cranial covariation and sexual dimorphism in occipital bone growth and possible attendant variation in occipital bun development or absence. In both bunned and non-bunned subjects, midsagittal occipital shape was found to be established very early in ontogeny, and then to remain largely unchanged between 3 years of age and adulthood. This result contradicts previous developmental hypotheses, which posit that occipital bunning results from a pattern of late posteriorly-directed brain growth. No evidence of sexual dimorphism in hemi-bun shape was found to exist in this extant human sample; however, defined hemi-buns were found to covary significantly with an elongated and low midsagittal neurocranial vault in both sexes. Other aspects of cranial morphology, including cranial and basicranial breadth, midcoronal vault shape, and basicranial angle, did not covary significantly with occipital bun morphology at any of the sampled age points. These results reveal that occipital bunning, at least in this sample, is not a discrete trait, but instead develops along a continuum in association with a distinct pattern of neurocranial elongation. Previous studies have suggested that Neandertal occipital buns are similarly associated with elongated cranial vaults. While more work must be done to quantify occipital bun morphology in fossil subadults, this study finds no evidence to disprove the developmental homology of the feature in modern humans and Neandertals, and therefore further undermines the idea that occipital bunning is a unique Neandertal trait.

No description available.

Advances in DNA sequencing revolutionized the field of genomics over the last 5 years. New sequencing instruments make it possible to rapidly generate large amounts of sequence data at substantially lower cost. These high-throughput sequencing technologies (e.g. Roche 454 FLX, Life Technology SOLiD, Dover Polonator, Helicos HeliScope and Illumina Genome Analyzer) make whole genome sequencing and resequencing, transcript sequencing as well as quantification of gene expression, DNA-protein interactions and DNA methylation feasible at an unanticipated scale. In the field of evolutionary genomics, high-throughput sequencing permitted studies of whole genomes from ancient specimens of different hominin groups. Further, it allowed large-scale population genetics studies of present-day humans as well as different types of sequence-based comparative genomics studies in primates. Such comparisons of humans with closely related apes and hominins are important not only to better understand human origins and the biological background of what sets humans apart from other organisms, but also for understanding the molecular basis for diseases and disorders, particularly those that affect uniquely human traits, such as speech disorders, autism or schizophrenia. However, while the cost and time required to create comparative data sets have been greatly reduced, the error profiles and limitations of the new platforms differ significantly from those of previous approaches. This requires a specific experimental design in order to circumvent these issues, or to handle them during data analysis. During the course of my PhD, I analyzed and improved current protocols and algorithms for next generation sequencing data, taking into account the specific characteristics of these new sequencing technologies. The presented approaches and algorithms were applied in different projects and are widely used within the department of Evolutionary Genetics at the Max Planck Institute of Evolutionary Anthropology. In this thesis, I will present selected analyses from the whole genome shotgun sequencing of two ancient hominins and the quantification of gene expression from short-sequence tags in five tissues from three primates.