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The Middle Paleolithic site of Mutzig-Rain, discovered in 1992, has been studied through several pits (called M1 to M15) and excavation area since 2009, evidencing several localities and delivering more than 5000 lithic artifacts and 12,000 well preserved paleontological remains. The main excavation M2 sequence corresponds to a collapsed rock shelter, containing several levels of Middle Paleolithic occupation. The faunal assemblage of the main archaeological levels (l.7a to 7c) from this sequence includes woolly mammoth, reindeer, horse, bison and woolly rhinoceros, reflecting both cold climate and a steppe context for the whole sequence, while microfauna from the lower levels (l.7d and l.10) indicate the occasional presence of forests that could correspond to a cooler climate. In 1995, U-series analyses on bones from M8 were attempted but the obtained results did not follow the sample stratigraphic order. Later, an OSL dating study has placed the M2 archaeological sequence as coeval to the onset of the Weichselian glacial stage (MIS5d-5a), between 100 and 80 ka. The good preservation of the abundant faunal remains at Mutzig-Rain has allowed their use for ESR/U-series dating studies and the results obtained on Mutzig horse teeth are given in the present paper. A first set of analyses of teeth carried out from the M2 excavation provided ages around 106-96 ka for levels M2 l.7, in agreement with the OSL data, despite quite systematic evidence of U-leaching from the dental tissues and the consequent use of the Accelerating Uptake (AU) model for the age calculation. A second set of analyses on teeth from the M2 and M8 localities confirms this uranium leaching trend, placing the deposition of these levels ca 133 -122 ka. Taking the whole set of ESR/U-series ages, which are slightly older than the OSL dates, would suggest that the stratigraphic sequence was deposited between ca 130 ka (M8 l. 6 and M2 l.10) and ca 100 ka (M2 l.7), i.e. on a time range covering the Eemian Interglacial (MIS5e) and the subsequent Early Weichselian Glacial stage (MIS5d-5a). However, as the faunal record indicates a cool climate and an open steppe-like environment for the whole archaeological sequence, the ESR/U-series dating to the Eemian Interglacial in the Mutzig-Rain sequence seems unlikely. In order to check the quality of the paleodosimetric reconstruction of the ESR/U-series analyses, an additional isochron study was performed for the two levels for which several teeth were analyzed: M2 l.7 (n = 4) and M8 l.6 (n = 3). This isochron study validates the proposed reconstruction and confirms the Early Weichselian age of these two levels. These results confirm the chronology established previously with OSL and places Mutzig-Rain as a reference site for the understanding of the Neanderthal Middle Palaeolithic occupation in Eastern France. [ABSTRACT FROM AUTHOR]

Background: Simonti et al. reported variation in the frequency of Neanderthal alleles found in modern humans and argued that they may have provided an evolutionary advantage. One such allele is SNP rs3917862, associated with hypercoagulability. rs3917862 can be deleterious, but can also help prevent blood loss. Aim: To investigate two possible selective pressure hypotheses for rs3917862 surviving to higher frequencies: deaths from interpersonal violent trauma and childbirth. Subjects and methods: Mortality data from modern hunter-gatherers models the living conditions and causes of death of humans and Neanderthals at the point of admixture. Results: National census data indicates a positive correlation between the presence of rs3917862 and decreased maternal mortality ratios. When the maternal mortality ratio is modelled using GDP, births attended by skilled assistants and the presence of rs3917862, women are 0.1% more likely to die in childbirth in populations lacking rs3917862. Deaths due to violence show no correlation with rs3917862. Conclusion: These findings challenge the idea that Neanderthal admixture has negatively impacted the overall health of modern humans. Maternal survival may have acted as a selective pressure for the persistence of hypercoagulability alleles in modern Europeans. Understanding the role of hypercoagulability in childbirth, and the role of rs3917862, could help to reduce maternal mortality ratios.

The Neanderthal and Denisovan genomes enabled the discovery of sequences that differ between modern and archaic humans, the majority of which are noncoding. However, our understanding of the regulatory consequences of these differences remains limited, in part due to the decay of regulatory marks in ancient samples. Here, we used a massively parallel reporter assay in embryonic stem cells, neural progenitor cells, and bone osteoblasts to investigate the regulatory effects of the 14,042 single-nucleotide modern human-specific variants. Overall, 1791 (13%) of sequences containing these variants showed active regulatory activity, and 407 (23%) of these drove differential expression between human groups. Differentially active sequences were associated with divergent transcription factor binding motifs, and with genes enriched for vocal tract and brain anatomy and function. This work provides insight into the regulatory function of variants that emerged along the modern human lineage and the recent evolution of human gene expression.

The oral microbiome plays key roles in human biology, health, and disease, but little is known about the global diversity, variation, or evolution of this microbial community. To better understand the evolution and changing ecology of the human oral microbiome, we analyzed 124 dental biofilm metagenomes from humans, including Neanderthals and Late Pleistocene to present-day modern humans, chimpanzees, and gorillas, as well as New World howler monkeys for comparison. We find that a core microbiome of primarily biofilm structural taxa has been maintained throughout African hominid evolution, and these microbial groups are also shared with howler monkeys, suggesting that they have been important oral members since before the catarrhine-platyrrhine split ca. 40 Mya. However, community structure and individual microbial phylogenies do not closely reflect host relationships, and the dental biofilms of Homo and chimpanzees are distinguished by major taxonomic and functional differences. Reconstructing oral metagenomes from up to 100 thousand years ago, we show that the microbial profiles of both Neanderthals and modern humans are highly similar, sharing functional adaptations in nutrient metabolism. These include an apparent Homo-specific acquisition of salivary amylase-binding capability by oral streptococci, suggesting microbial coadaptation with host diet. We additionally find evidence of shared genetic diversity in the oral bacteria of Neanderthal and Upper Paleolithic modern humans that is not observed in later modern human populations. Differences in the oral microbiomes of African hominids provide insights into human evolution, the ancestral state of the human microbiome, and a temporal framework for understanding microbial health and disease. [ABSTRACT FROM AUTHOR]

Background/Aims: Neanderthals, although well adapted to local environments, were rapidly replaced by anatomically modern humans (AMH) for unknown reasons. Genetic information on Neanderthals is limited restricting applicability of standard population genetics. Methods: Here, we apply a novel combination of restricted genetic analyses on preselected physiological key players (ion channels), electrophysiological analyses of gene variants of unclear significance expressed in Xenopus laevis oocytes using two electrode voltage clamp and transfer of results to AMH genetics. Using genetic screening in infertile men identified a loss of CLC-2 associated with sperm deficiency. Results: Increased genetic variation caused functionally impaired Neanderthals CLC-2 channels. Conclusion: Increased genetic variation could reflect an adaptation to different local salt supplies at the cost of reduced sperm density. Interestingly and consistent with this hypothesis, lack of CLC-2 protein in a patient associates with high blood K+ concentration and azoospermia. [ABSTRACT FROM AUTHOR]

Study Question: Were Neanderthals and Denisovans (referred here also as extinct hominidae) carrying deleterious variants in genes regulating reproduction?Summary Answer: The majority of extinct hominidae analyzed here, presented a considerable number of deleterious variants per individual in proteins regulating different aspects of reproduction, including gonad and uterine function, and gametogenesis.What Is Known Already: Neanderthals, Denisovans and extant humans were interfertile and hybridized while occupying geographically overlapping areas in Europe and Asia. This is evidenced by the small archaic genome component (average ∼2%) present in non-African extant humans.Study Design, Size, Duration: The genome of eight extinct hominidae, together with five human genome databases, plus 44 mothers and 48 fathers (fertile controls), were screened to look for deleterious variants in 1734 protein-coding genes regulating reproduction.Participants/materials, Setting, Methods: Ancient DNA from six Neanderthals and two Denisovans dated between ∼82 000 and 43 000 calibrated years was retrieved from the public European Nucleotide Archive. The hominins analyzed include Altai, Vindija 33.15, 33.19, 33.25 and 33.26, El Sidron 1253, Denisova 3 and 11. Their DNA was analyzed using the CLC Genomics Workbench 12, by mapping overlapping paired-end reads (Illumina, FASTQ files) to the human genome assembly GRCh37 (hg19) (Vindija 33.19, 33.25, 33.26, Denisova 3 and Denisova 11) or by analyzing BAM files (Altai, El Sidron 1253 and Vindija 33.15) (human genome reference, GRCh37 (hg19)). Non-synonymous reproductive variants were classified as deleterious or tolerated (PolyPhen-2 and SIFT analyses) and were compared to deleterious variants obtained from extant human genome databases (Genome Aggregation Database (GnomAD), 1000 Genomes, the Haplotype Map (HapMap), Single Nucleotide Polymorphism Database (dbSNPs)) across different populations. A genetic intersection between extant or extinct DNA variants and other genetic disorders was evaluated by annotating the obtained variants with the Clinical Variant (ClinVar) database.Main Results and the Role Of Chance: Among the eight extinct hominidae analyzed, a total of 9650 non-synonymous variants (only coverage ≥20 reads included; frameshift mutations were excluded) in 1734 reproductive protein-coding genes were found, 24% of which were classified as deleterious. The majority (73%) of the deleterious alleles present in extant humans that are shared between extant humans and extinct hominidae were found to be rare (<1%) in extant human populations. A set of 8044 variants were found uniquely in extinct hominidae. At the single-gene level, no extinct individual was found to be homozygous for deleterious variants in genes necessary for gamete recognition and fusion, and no higher chance of embryo-lethality (calculated by Mendelian Genetics) was found upon simulated mating between extant human and extinct hominidae compared to extant human-extant human. However, three of the eight extinct hominidae were found to be homozygous for 48-69 deleterious variants in 55 genes controlling ovarian and uterine functions, or oogenesis (AKAP1, BUB1B, CCDC141, CDC73, DUSP6, ESR1, ESR2, PATL2, PSMC3IP, SEMA3A, WT1 and WNT4). Moreover, we report the distribution of nine Neanderthal variants in genes associated with a human fertility phenotype found in extant human populations, one of which has been associated with polycystic ovarian syndrome and primary congenital glaucoma.Limitations, Reasons For Caution: While analyzing archaic DNA, stringent filtering criteria were adopted to screen for deleterious variants in Neanderthals and Denisovans, which could result in missing a number of variants. Such restraints preserve the potential for detection of additional deleterious variants in reproductive proteins in extinct hominidae.Wider Implications Of the Findings: This study provides a comprehensive overview of putatively deleterious variants in extant human populations and extinct individuals occurring in 1734 protein-coding genes controlling reproduction and provides the fundaments for future functional studies of extinct variants in human reproduction.Study Funding/competing Interest(s): This study was supported by the Department of Biological Science and by the Office of Research and Sponsored Programs at the University of Tulsa (Faculty Research Grant and Faculty Research Summer Fellowship) to M.A. and the University of Tulsa, Tulsa Undergraduate Research Challenge (TURC) program to E.L.; no conflict of interest to declare.Trial Registration Number: N/A. [ABSTRACT FROM AUTHOR]

The inference of Neanderthal cognition, including their cultural and linguistic capabilities, has persisted as a fiercely debated research topic for decades. This lack of consensus is substantially based on inherent uncertainties in reconstructing prehistory out of indirect evidence as well as other methodological limitations. Further factors include systemic difficulties within interdisciplinary discourse, data artifacts, historic research biases, and the sheer scope of the relevant research. Given the degrees of freedom in interpretation ensuing from these complications, any attempt to find approximate answers to the yet unsettled pertinent discourse may not rest on single studies, but instead a careful and comprehensive interdisciplinary synthesis of findings. Triangulating Neanderthals' cognition by considering the plethora of data, diverse perspectives and aforementioned complexities present within the literature constitutes the currently most reliable pathway to tentative conclusions. While some uncertainties remain, such an approach paints the picture of an extensive shared humanity between anatomically modern humans and Neanderthals. This article is categorized under:Cognitive Biology > Evolutionary Roots of CognitionLinguistics > Evolution of Language [ABSTRACT FROM AUTHOR]

Numerous biological and cultural factors influence the microbial communities (microbiota) that inhabit the human mouth, including diet, environment, hygiene, physiology, health status, genetics, and lifestyle. As oral microbiota can underpin oral and systemic diseases, tracing the evolutionary history of oral microbiota and the factors that shape its origins will unlock information to mitigate disease today. Despite this, the origins of many oral microbes remain unknown, and the key factors in the past that shaped our oral microbiota are only now emerging. High throughput DNA sequencing of oral microbiota using ancient DNA and comparative anthropological methodologies has been employed to investigate oral microbiota origins, revealing a complex, rich history. Here, I review the current literature on the factors that shaped and guided oral microbiota evolution, both in Europe and globally. In Europe, oral microbiota evolution was shaped by interactions with Neandertals, the adaptation of farming, widespread integration of industrialization, and postindustrial lifestyles that emerged after World War II. Globally, evidence for a multitude of different oral microbiota histories is emerging, likely supporting dissimilarities in modern oral health across discrete human populations. I highlight how these evolutionary changes are linked to the development of modern oral diseases and discuss the remaining factors that need to be addressed to improve this embryonic field of research. I argue that understanding the evolutionary history of our oral microbiota is necessary to identify new treatment and prevention options to improve oral and systemic health in the future. [ABSTRACT FROM AUTHOR]

The last four decades has brought significant development in the field of molecular archaeology and ancient DNA (aDNA). The novel methods cover a wide spectrum of research, ranging from the reconstruction of small fragments of mitochondrial DNA to large-scale studies of entire populations, combining sequencing of mitochondrial genomes, genes subjected to natural selection and entire nuclear genomes. Progress, particularly in the field of DNA sequencing technology, has made it possible to obtain information from paleontological and archaeological remains, thereby allowing us to examine the relationship between extinct and contemporary species. By introduction next-generation sequencing, it has become possible to recognize DNA sequence not only directly from remains but also from sediments from the depths of lakes and caves. This publication aims to provide the reader with knowledge about the possibilities and limitations of studies on human, animals and bacterial ancient DNA, as well as polish contribution to the development of this field of science. [ABSTRACT FROM AUTHOR]

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Non-African humans appear to carry a few per cent archaic DNA due to ancient inter-breeding. This modest legacy and its likely recent timing imply that most introgressed fragments will be rare and hence will occur mainly in the heterozygous state. I tested this prediction by calculating D statistics, a measure of legacy size, for pairs of humans where one of the pair was conditioned always to be either homozygous or heterozygous. Using coalescent simulations, I confirmed that conditioning the non-African to be heterozygous increased D, while conditioning the non-African to be homozygous reduced D to zero. Repeating with real data reveals the exact opposite pattern. In African–non-African comparisons, D is near-zero if the African individual is held homozygous. Conditioning one of two Africans to be either homozygous or heterozygous invariably generates large values of D, even when both individuals are drawn from the same population. Invariably, the African with more heterozygous sites (conditioned heterozygous > unconditioned > conditioned homozygous) appears less related to the archaic. By contrast, the same analysis applied to pairs of non-Africans always yields near-zero D, showing that conditioning does not create large D without an underlying signal to expose. Large D values in humans are therefore driven almost entirely by heterozygous sites in Africans acting to increase divergence from related taxa such as Neanderthals. In comparison with heterozygous Africans, individuals that lack African heterozygous sites, whether non-African or conditioned homozygous African, always appear more similar to archaic outgroups, a signal previously interpreted as evidence for introgression. I hope these analyses will encourage others to consider increased divergence as well as increased similarity to archaics as mechanisms capable of driving asymmetrical base-sharing.

Abstract Background The availability of the genomes of two archaic humans, Neanderthal and Denisovan, and that of modern humans provides researchers an opportunity to investigate genetic differences between these three subspecies on a genome-wide scale. Here we describe an algorithm that predicts statistically significant motifs based on the difference between a given motif’s actual and expected distributions. The algorithm was previously applied to plants but was modified for this work. Results The result of applying the algorithm to the human, Neanderthal, and Denisovan genomes is a catalog of potential regulatory motifs in these three human subspecies. We examined the distributions of these motifs in genetic elements including human retroviruses, human accelerated regions, and human accelerated conserved noncoding sequences regions. Differences in these distributions could be the origin of differences in phenotype between the three subspecies. Twenty significant motifs common to all three genomes were found; thirty-three were found in endogenous retroviruses in Neanderthal and Denisovan. Ten of these motifs mapped to the 22 bp core of MiR-1304. The core of this genetic element regulates the ENAM and AMTN genes, which take part in odontogenesis and whose 3’ UTRs contained significant motifs. The introns of 20 genes were found to contain a large number of significant motifs, which were also overrepresented in 49 human accelerated regions. These genes include NAV2, SorCS2, TRAPPC9, GRID1, PRDM16, CAMTA1, and ASIC which are all involved in neuroregulation. Further analysis of these genes using the GO database indicates that many are associated with neurodevelopment. Also, varying numbers of significant motifs were found to occur in regions of the Neanderthal and Denisovan genomes that are missing from the human genome, suggesting further functional differences between modern and archaic humans. Conclusion Although Neanderthal and Denisovan are now extinct, detailed examination of elements from their genomes can shed light on possible phenotypic and cognitive differences between these two archaic human subspecies and modern humans. Genetic similarities and differences between these three subspecies and other fossil hominids would also be of interest.

Studying lithic raw material sourcing, processing and distribution is helpful when trying to reconstruct the territory, ecology, and cultural practices of Neanderthal groups. The use of multiple methods in such analyses allows for more refined characterizations to be made, helping to distinguish between materials better than any single method. Although 85% of the raw materials making up the Mousterian assemblage at the Navalmaíllo Rock Shelter (Pinilla del Valle, Madrid Region of Spain) correspond to the available local geological resources, 10% is made of white/beige chert, which is not registered in regional geological cartography. Petrographic and scanning electron microscopy with energy dispersive X‐ray spectroscopy analyses were performed to determine the origin of this white/beige chert and thus shed light on the procurement strategies of the Neanderthal groups that occupied the rock shelter. The results show this chert to correspond to three different types of rock: quartz–kaolinite rocks from dykes, cretaceous marine cherts, and quartz fillings of cavities/fractures. These findings are in accordance with the geological features and formations present in the Lozoya valley, as recorded during a geoarchaeological survey, and indicate that the Neanderthals occupying the center of the Iberian Peninsula possessed a detailed knowledge of the landscape that allowed them to exploit its resources during MIS5a–early MIS4. [ABSTRACT FROM AUTHOR]

The timing of the Neanderthal-associated Middle Palaeolithic demise and a possible overlap with anatomically modern humans (AMH) in some regions of Eurasia continues to be debated. The Iberian Peninsula is considered a possible refuge zone for the last Neanderthals, but the chronology of the later Middle Palaeolithic record has undergone revision and has increased the debate on the timing of Neanderthal extinction. Here we report on a study of the 5-m-thick archaeological stratigraphy of the Cardina-Salto do Boi, an open-air site located in inland Iberia, from which optically stimulated luminescence (OSL) ages were obtained for Middle and Upper Palaeolithic occupations preserved in overbank alluvial deposits. Geomorphology, archaeostratigraphy, stone-tool evolution, and OSL dating support the persistence of Neanderthals after 41 ka in central Iberia; the transition between the Middle Palaeolithic material culture and the AMH-associated Aurignacian blade and bladelet production is estimated to lie between 34.0 ± 2.0 ka and 38.4 ± 1.9 ka. Our results demonstrate that investigations focusing on different geomorphological situations are necessary to overcome the current limitations of the evidence and to establish more consistent models for Neanderthal disappearance and AMH expansion in the Iberian Peninsula. [ABSTRACT FROM AUTHOR]

The first cervical vertebra, atlas, and its anatomical variants have been widely studied in Homo sapiens. However, in Neanderthals, the presence of anatomical variants of the atlas has been very little studied until very recently. Only the Neanderthal group from the El Sidrón site (Spain) has been analysed with regard to the anatomical variants of the atlas. A high prevalence of anatomical variants has been described in this sample, which points to low genetic diversity in this Neanderthal group. Even so, the high prevalence of anatomical variations detected in El Sidrón Neanderthal atlases needs to be confirmed by analysing more Neanderthal remains. In this context, we analysed the possible presence of anatomical variants in the three Neanderthal atlases recovered from the Krapina site (Croatia) within the Neanderthal lineage. Two of the three Krapina atlases presented anatomical variations. One atlas (Krapina 98) had an unclosed transverse foramen and the other (Krapina 99) presented a non‐fused anterior atlas arch. Moreover, an extended review of the bibliography also showed these anatomical variations in other Middle and Upper Pleistocene hominins, leading us to hypothesise that anatomical variations of the atlas had a higher prevalence in extinct hominins than in modern humans. [ABSTRACT FROM AUTHOR]

Mortuary behavior (activities concerning dead conspecifics) is one of many traits that were previously widely considered to have been uniquely human, but on which perspectives have changed markedly in recent years. Theoretical approaches to hominin mortuary activity and its evolution have undergone major revision, and advances in diverse archeological and paleoanthropological methods have brought new ways of identifying behaviors such as intentional burial. Despite these advances, debates concerning the nature of hominin mortuary activity, particularly among the Neanderthals, rely heavily on the rereading of old excavations as new finds are relatively rare, limiting the extent to which such debates can benefit from advances in the field. The recent discovery of in situ articulated Neanderthal remains at Shanidar Cave offers a rare opportunity to take full advantage of these methodological and theoretical developments to understand Neanderthal mortuary activity, making a review of these advances relevant and timely. [ABSTRACT FROM AUTHOR]

There is a large, if disparate, body of archaeological literature discussing specific instantiations of symbolic material culture and the possibility of ritual practices in Neanderthal populations. Despite this attention, however, no single synthesis exists that draws upon cognitive, psychological and cultural evolutionary theories of ritual. Here, we review the evidence for ritualpractice among now-extinct Homo neanderthalensis, as well as the necessary cognitive pre-conditions for such behaviour, in order to explore the evolution of ritual in Homo sapiens. We suggest that the currently available archaeological evidence indicates that Neanderthals may have used 'ritualization' to increase the successful transmission of technical knowledge across generations--providing an explanation for the technological stability of the Middle Palaeolithic and attesting to a survival strategy differing from near-contemporary H. sapiens. This article is part of the theme issue 'Ritual renaissance: new insights into the most human of behaviours'. [ABSTRACT FROM AUTHOR]

The Central Balkans represents a significant geographical gap in the human fossil record of Eurasia. Here we present two new human fossils from Pešturina Cave, Serbia: a partial atlas vertebra (C1) and a fragment of radial diaphysis. The atlas (Pes-1) derives from the lower portion of Layer 2 and conforms to modern human morphology. This layer is characterized by Gravettian industry despite uncertainties caused by bioturbation and difficulties in separating Layers 2 and 3. The radial fragment (Pes-2) was recovered from the contact zone between Layers 3 and 4, both of which represent Mousterian industries, and is tentatively assessed as Neanderthal based on morphology. With the recent publication of a Neanderthal molar (Pes-3) from the same site, Pešturina currently stands as the only Neanderthal fossil-bearing site in Serbia. These additional finds make Pešturina Cave the only site in the Central Balkans which preserves both modern human and Neanderthal remains with associated lithic industries and highlights the importance of Pešturina in the current discourse on hominin dispersals and migrations in the Balkans. [ABSTRACT FROM AUTHOR]

Pathogens and infectious diseases have imposed exceptionally strong selective pressure on ancient and modern human genomes and contributed to the current variation in many genes. There is evidence that modern humans acquired immune variants through interbreeding with ancient hominins, but the impact of such variants on human traits is not fully understood. The main objectives of this research were to infer the genetic signatures of positive selection that may be involved in adaptation to infectious diseases and to investigate the function of Neanderthal alleles identified within a set of 50 Lithuanian genomes. Introgressed regions were identified using the machine learning tool ArchIE. Recent positive selection signatures were analysed using iHS. We detected high-scoring signals of positive selection at innate immunity genes (EMB, PARP8, HLA C, and CDSN) and evaluated their interactions with the structural proteins of pathogens. Interactions with human immunodeficiency virus (HIV) 1 and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) were identified. Overall, genomic regions introgressed from Neanderthals were shown to be enriched in genes related to immunity, keratinocyte differentiation, and sensory perception. • Pathogens and infectious diseases have imposed exceptionally strong selective pressure on ancient and modern human genomes. • Introgressed regions were identified using the machine learning tool ArchIE signals of. • Positive selection at innate immunity genes. • Neanderthals enriched in genes related to immunity, keratinocyte differentiation, and sensory perception. [ABSTRACT FROM AUTHOR]

Possible contacts between hunter-gatherers of Northern Africa and Europe via the Strait of Gibraltar during the Pleistocene are still object to discussions. In the absence of significant fossil remains, debates are mainly based on similarities and differences of singular aspects of material culture. However, a theoretical framework for these discussions was lacking. The first aim of this study thus has been the development of a theoretical base. We therein included Maslow´s pyramid of basic needs. The idea of our approach is that the presence or absence of so-called cultural tracers identify either contact or disparity. A large database on archaeological sites of Morocco and Southern Iberia dating between 160 ka and 40 ka years ago has been compiled, containing information about lithic technology and typology, lithic raw material acquisition, subsistence patterns and symbolic behaviour. We formulated three potential contact scenarios between the two regions. The presence and/or absence of so-called cultural tracers within the data set, that covered all levels of Maslow´s pyramid, led us to conclude that – based on the present archaeological and anthropological data - no contact took place between Iberian and North African populations across the Strait of Gibraltar in the given time frame.

Despite critical roles in chromosome segregation and disease, the repetitive structure and vast size of centromeres and their surrounding heterochromatic regions impede studies of genomic variation. Here we report the identification of large-scale haplotypes (cenhaps) in humans that span the centromere-proximal regions of all metacentric chromosomes, including the arrays of highly repeated α-satellites on which centromeres form. Cenhaps reveal deep diversity, including entire introgressed Neanderthal centromeres and equally ancient lineages among Africans. These centromere-spanning haplotypes contain variants, including large differences in α-satellite DNA content, which may influence the fidelity and bias of chromosome transmission. The discovery of cenhaps creates new opportunities to investigate their contribution to phenotypic variation, especially in meiosis and mitosis, as well as to more incisively model the unexpectedly rich evolution of these challenging genomic regions.

Schizophrenia is a psychiatric disorder with a worldwide prevalence of ∼1%. The high heritability and reduced fertility among schizophrenia patients have raised an evolutionary paradox: why has negative selection not eliminated schizophrenia associated alleles during evolution? To address this question, we examined evolutionary markers, known as modern-human-specific (MD) sites and archaic-human-specific sites, using existing genome-wide association study (GWAS) data from 34,241 individuals with schizophrenia and 45,604 healthy controls included in the Psychiatric Genomics Consortium (PGC). By testing the distribution of schizophrenia single nucleotide polymorphisms (SNPs) with risk and protective effects in the human-specific sites, we observed a negative selection of risk alleles for schizophrenia in modern humans relative to archaic humans (e.g., Neanderthal and Denisovans). Such findings indicate that risk alleles of schizophrenia have been gradually removed from the modern human genome due to negative selection pressure. This novel evidence contributes to our understanding of the genetic origins of schizophrenia.

Geißenklösterle Cave (Germany) is one of the most important Paleolithic sites in Europe, as it is characterized by human occupation during the Middle and early Upper Paleolithic. Aurignacian layers prior to 37–38 ka cal BP feature both musical and figurative art objects that are linked to the early arrival in Europe of Homo sapiens. Middle Paleolithic layers yielded lithic artifacts attributed to Homo neanderthalensis. Since human occupation at the site is attributed to both Neanderthals and modern humans, chronology is essential to clarify the issues of Neanderthal disappearance, modern human expansion in Europe, and the origin of the Aurignacian in Western Europe. Electron spin resonance (ESR) dating was performed on fossil tooth enamel collected from the Middle Paleolithic layers, which are beyond the radiocarbon dating range, and from the nearly sterile 'transitional' geological horizon (GH) 17 and the lower Aurignacian deposits, to cross-check ESR ages with previous radiocarbon, thermoluminescence and ESR age results. The Middle Paleolithic layers were dated between 94 ± 10 ka (GH 21) and 55 ± 6 ka (GH 18) by ESR on tooth enamel. Mean ages for GH 17, at 46 ± 3 ka, and for the lower Aurignacian layers, at 37 ± 3 ka, are in agreement with previous dating results, thus supporting the reliability of ESR chronology for the base of the sequence where dating comparisons are not possible. These results suggest that Neanderthals occupied the site from Marine Isotope Stage (MIS) 5 to the second half of MIS 3 and confirm the antiquity of early Aurignacian deposits. The presence of an almost sterile layer that separates Middle and Upper Paleolithic occupations could be related to the abandonment of the site by Neanderthals, possibly during Heinrich Stadial 5 (ca. 49–47 ka), thus before the arrival of H. sapiens in the area around 42 ka cal BP. These dates for the Middle Paleolithic of the Swabian Jura represent an important contribution to the prehistory of the region, where nearly all of the excavations were conducted decades ago and prior to the development of reliable radiometric dating beyond the range of radiocarbon. [ABSTRACT FROM AUTHOR]