Biology subjects

Barbieri, C.

Publications and source records attributed to Barbieri, C..

11 recordsLinked to original sources

bioRxiv2025

Palaeogenomics reveals 1,500 years of population history of the peoples of the Chonos Archipelago, Chile.

The Chonos archipelago, located in northwestern Chilean Patagonia, was historically inhabited by an Indigenous sea-faring population known to the European colonists as the "Chono". Previous research has contextualized the human occupation of this region with radiocarbon dates and ancient mitochondrial genomes, offering a partial perspective on the history of its inhabitants. Here we present a paleogenomic analysis of 20 ancient human individuals from 6 archaeological sites, dated between 1,600-50 years before present (BP). We successfully captured over 100,000 SNPs from 15 of 20 individuals and recovered 12 full mitogenomes. All individuals presented unadmixed Indigenous South American ancestry and formed a separated genetic cluster relative to other ancient and modern South American genomes, indicating a unique Chonos ancestry. This Chonos ancestry falls within a broader cluster of late-Holocene Patagonian ancestry, most similar to the Kawesqar peoples who neighbour to the south. Within the Chonos, we distinguish a northern and southern ancestry cluster. The northern Chonos cluster exhibits some genetic connections to the present-time inhabitants of the neighbouring island of Chiloe, who are connected to Huilliche Indigenous history. Our findings reveal a point of contact between southern Chonos/Patagonian ancestry to the south and Mapuche ancestry to the north, and confirm that sea-faring subsistence was a knowledge transferred between Patagonian peoples.

genomics↗

bioRxiv2025

Revisiting the African mtDNA Landscape: A Continental Update from Complete Mitochondrial Genomes

AbstractAfrica harbors the richest diversity of mitochondrial DNA lineages, reflecting its central role in human evolutionary history. Early studies of mtDNA variation provided the first genetic evidence for the African origin of modern humans. With complete mitochondrial genome sequencing, we can now reconstruct maternal lineages with high resolution, yet large parts of the continent remain underrepresented. Using a newly developed long-range sequencing assay, we generated 1,288 complete mitochondrial genomes from 14 countries across sub-Saharan Africa, focusing on previously understudied regions. We combined these with over 3,600 publicly available African mitogenomes to produce a comprehensive dataset and updated overview of maternal genetic diversity across the continent. We contextualized this diversity with autosomal structure and information on major human expansions, integrating archaeological and linguistic evidence. Our analyses reveal a demographic expansion of Niger-Congo speakers around 17 thousand years ago (kya), followed by a second expansion associated with Bantuspeaking groups around 6 kya. We identify haplogroup L3e as a key marker of this early Bantu expansion, tracking its spread across sub-Saharan Africa. Distinct demographic signatures also emerge for different geographic sub-branches of Bantu speakers. These findings highlight the power of mitochondrial DNA to trace maternal ancestry and demographic history in Africa, while also acknowledging its limitations for phylogeographic reconstruction.

evolutionary biology↗

bioRxiv2024

An inverse correlation between linguistic and genetic diversity

Human population history, as traced by our genome, has shaped the distribution of languages around the world. While case studies suggest that population history can also affect specific structures of languages, such as patterns in their sound systems and grammars, results are conflicting, and it remains unknown whether such effects hold globally. Here we show that, adjusting for geography, phylogeny, and environment, genetic diversity is inversely correlated with diversity in linguistic structures. Low genetic diversity (i.e. excess homozygosity) results from relative isolation, and this promotes diversification in language. High genetic diversity results from contact and migration, and this promotes homogenization in language. These effects are particularly pronounced in Asia and, under some conditions, also in a few other areas, suggesting sociocultural factors contributing to differences in how strongly isolation favors linguistic diversity and how strongly contact promotes linguistic homogenization. Our results suggest that present-day hotspots of linguistic diversity, which are characterized by relative isolation, may provide a privileged window on the dynamics of linguistic evolution as they are less affected by the vast demographic expansions, migrations, and extinctions that characterize the Neolithic age.

evolutionary biology↗

bioRxiv2024

Global patterns of genetic admixture reveal effects of language contact

When speakers of different languages are in contact, they often borrow features like sounds, words, or syntactic patterns from one language to the other, but the lack of historical data has hampered estimation of this effect at a global scale. We break out of this impasse by using genetic admixture as a proxy for population contact. We find that language pairs whose speaker populations underwent genetic admixture or that are located in the same geo-historical area share more features than others, suggesting borrowing. The effect varies strongly across features, partly following expectations from differences in lifelong learnability, partly responding to differences in social imbalances during contact. Additionally, we find that for some features, admixture decreases sharing. This likely reflects signals of divergence (schismogenesis) under contact.

evolutionary biology↗

bioRxiv2024

Animal acoustic communication maintains a universal optimum rhythm

Most animals interact with conspecifics through acoustic signals that are modulated in frequency and rhythm. While small animals vocalize at higher pitch than large ones due to the smaller size of their vocal apparatus, the rules governing vocalization rhythms throughout the animal kingdom remain unknown. Vocal rhythms serve as a natural information parser, and one possibility is that they are constrained by the neural rhythms of transmitter and receiver, known to be relatively conserved across species and independent of their size. In this study, we quantified acoustic rhythms across taxa and investigated their evolutionary history with regard to phylogeny and selective pressure. In 98 species from six classes, we tested the main factors likely to influence their communication rhythms: morphology, physiology, social complexity, mastication and detectability. Phylogenetic modeling did not confirm the influence of these species-specific factors, but rather point to a scenario where acoustic communication rhythms have been maintained around an optimum at around 3Hz in the biological (neuronal) delta range (1-4Hz) well before the mammals split. These results suggest that the rhythm of acoustic communication signals, unlike their pitch, has a universal neural determinant that has been conserved throughout evolution, allowing for intra- and cross-species signaling.

animal behavior and cognition↗

bioRxiv2024

Canonical AREs are tumor suppressive regulatory elements in the prostate

The androgen receptor (AR) is the central determinant of prostate tissue identity and differentiation, controlling normal, growth-suppressive prostate-specific gene expression1. It is also a key driver of prostate tumorigenesis, becoming "hijacked" to drive oncogenic transcription2-5. However, the regulatory elements determining the execution of the growth suppressive AR transcriptional program, and whether this can be reactivated in prostate cancer (PCa) cells remains unclear. Canonical androgen response element (ARE) motifs are the classic DNA binding element for AR6. Here, we used a genome-wide strategy to modulate regulatory elements containing AREs to define distinct AR transcriptional programs. We find that activation of these AREs is specifically associated with differentiation and growth suppressive transcription, and this can be reactivated to cause death in AR+ PCa cells. In contrast, repression of AREs is well tolerated by PCa cells, but deleterious to normal prostate cells. Finally, gene expression signatures driven by ARE activity are associated with improved prognosis and luminal phenotypes in human PCa patients. This study demonstrates that canonical AREs are responsible for a normal, growth-suppressive, lineage-specific transcriptional program, that this can be reengaged in PCa cells for potential therapeutic benefit, and genes controlled by this mechanism are clinically relevant in human PCa patients.

cancer biology↗

bioRxiv2018

The genomic landscape of western South America: Andes, Amazonia and Pacific Coast

Studies of Native South American genetic diversity have helped to shed light on the peopling and differentiation of the continent, but available data are sparse for the major ecogeographic domains. These include the Pacific Coast, a potential early migration route; the Andes, home to the most expansive complex societies and to one of the most spoken indigenous language families of the continent (Quechua); and Amazonia, with its understudied population structure and rich cultural diversity. Here we explore the genetic structure of 177 individuals from these three domains, genotyped with the Affymetrix Human Origins array. We infer multiple sources of ancestry within the Native American ancestry component; one with clear predominance on the Coast and in the Andes, and at least two distinct substrates in neighboring Amazonia, with a previously undetected ancestry characteristic of northern Ecuador and Colombia. Amazonian populations are also involved in recent gene-flow with each other and across ecogeographic domains, which does not accord with the traditional view of small, isolated groups. Long distance genetic connections between speakers of the same language family suggest that languages had spread not by cultural contact alone. Finally, Native American populations admixed with post-Columbian European and African sources at different times, with few cases of prolonged isolation. With our results we emphasize the importance of including under-studied regions of the continent in high-resolution genetic studies, and we illustrate the potential of SNP chip arrays for informative regional scale analysis.

genetics↗

bioRxiv2018

Proteomic and Genomic Signatures of Repeat-instability in Cancer and Adjacent Normal Tissues

Repetitive sequences are hotspots of evolution at multiple levels. However, due to technical difficulties involved in their assembly and analysis, the role of repeats in tumor evolution is poorly understood. We developed a rigorous motif-based methodology to quantify variations in the repeat content of proteomes and genomes, directly from proteomic and genomic raw sequence data, and applied it to analyze a wide range of tumors and normal tissues. We identify high similarity between the repeat-instability in tumors and their patient-matched normal tissues, but also tumor-specific signatures, both in protein expression and in the genome, that strongly correlate with cancer progression and robustly predict the tumorigenic state. In a patient, the hierarchy of genomic repeat instability signatures accurately reconstructs tumor evolution, with primary tumors differentiated from metastases. We find an inverse relationship between repeat-instability and point mutation load, within and across patients, and independently of other somatic aberrations. Thus, repeat-instability is a distinct, transient and compensatory adaptive mechanism in tumor evolution.

cancer biology↗

bioRxiv2017

Genetic structure and sex-biased gene flow in the history of southern African populations

ObjectivesWe investigated the genetic history of southern African populations with a special focus on their paternal history. We reexamined previous claims that the Y-chromosome haplogroup E1b1b was brought to southern Africa by pastoralists from eastern Africa, and investigated patterns of sex-biased gene flow in southern Africa.\n\nMaterial and MethodsWe analyzed previously published complete mtDNA genome sequences and ~900 kb of NRY sequences from 23 populations from Namibia, Botswana and Zambia, as well as haplogroup frequencies from a large sample of southern African populations and 23 newly genotyped Y-linked STR loci for samples assigned to haplogroup E1b1b.\n\nResultsOur results support an eastern African origin for Y-chromosome haplogroup E1b1b; however, its current distribution in southern Africa is not strongly associated with pastoralism, suggesting a more complex origin for pastoralism in this region. We confirm that the Bantu expansion had a notable genetic impact in southern Africa, and that in this region it was probably a rapid, male-dominated expansion. Furthermore, we find a significant increase in the intensity of sex-biased gene flow from north to south, which may reflect changes in the social dynamics between Khoisan and Bantu groups over time.\n\nConclusionsOur study shows that the population history of southern Africa has been very complex, with different immigrating groups mixing to different degrees with the autochthonous populations. The Bantu expansion led to heavily sex-biased admixture as a result of interactions between Khoisan females and Bantu males, with a geographic gradient which may reflect changes in the social dynamics between Khoisan and Bantu groups over time.

genetics↗

bioRxiv2017

High Resolution Mitochondrial DNA Analysis Sheds Light On Human Diversity, Cultural Interactions And Population Mobility In Northwestern Amazonia

ObjectivesNorthwestern Amazonia (NWA) is a center of high linguistic and cultural diversity. Several language families and linguistic isolates occur in this region, as well as different subsistence patterns: some groups are foragers while others are agriculturalists. In addition, speakers of Eastern Tukanoan languages are known for practicing linguistic exogamy, a marriage system in which partners must come from different language groups. In this study, we use high resolution mitochondrial DNA sequencing to investigate the impact of this linguistic and cultural diversity on the genetic relationships and structure of NWA groups.\n\nMethodsWe collected saliva samples from individuals representing 40 different NWA ethnolinguistic groups and sequenced 439 complete mitochondrial genomes to an average coverage of 1030x.\n\nResultsThe mtDNA data revealed that NWA populations have high genetic diversity with extensive sharing of haplotypes among groups. Moreover, groups who practice linguistic exogamy have higher mtDNA diversity, while the foraging Nukak have lower diversity. We also find that rivers play a more important role than either geography or language affiliation in structuring the genetic relationships of populations.\n\nDiscussionContrary to the view of NWA as a pristine area inhabited by small human populations living in isolation, our data support a view of high diversity and contact among different ethnolinguistic groups; movement along rivers has probably facilitated this contact. Additionally, we provide evidence for the impact of cultural practices, such as linguistic exogamy, on patterns of genetic variation. Overall, this study provides new data and insights into a remote and little-studied region of the world.

evolutionary biology↗

bioRxiv2016

The Tell-Tale Genome

Observable patterns of cultural variation are consistently intertwined with demic movements, cultural diffusion, and adaptation to different ecological contexts (Cavalli-Sforza and Feldman 1981; Boyd and Richerson 1985). The quantitative study of gene-culture co-evolution has focused in particular on the mechanisms responsible for change in frequency and attributes of cultural traits, on the spread of cultural information through demic and cultural diffusion, and on detecting relationships between genetic and cultural lineages. Here, for the first time, we make use of worldwide whole-genome sequences (Pagani et al. 2016) to assess the impact of demic diffusion on cultural diversity, focusing on the variability observed in folktale traditions (N=596) (Uther 2004) in Eurasia and Africa. We show that at small geographic scales (<=5000 km) there is a strong correlation between folktale and genomic distance when the effect of geography is corrected, while geographic distance has no independent effect on the distribution of folkloric narratives at the same spatial scale. This points to demic processes (i.e. population movement and replacement) as the main driver of folktale transmission at limited geographic ranges. The role of population movements becomes more apparent when regions characterized by episodes of directional expansions, such as the Neolithization of West Eurasia, are examined. Furthermore, we identify 89 individual tales which are likely to be predominantly transmitted through demic diffusion, and locate putative focal areas for a subset of them.

evolutionary biology↗