Search Results (45)

Human skin pigmentation is one of the most visible and variable traits among populations and has been shaped primarily by natural selection in response to ultraviolet (UV) radiation. This review synthesizes the current understanding of the genetic and evolutionary mechanisms that underlie pigmentation differences across the globe. The roles of key pigmentation-related genes, such as MC1R, SLC24A5, TYR, and OCA2, are examined in terms of how different versions of these genes have been favored in different UV environments to balance the need for photoprotection and vitamin-D synthesis. Evidence of convergent evolution in lighter skin pigmentation is explored among populations in Europe and East Asia, along with the relatively stable presence of darker pigmentation alleles in equatorial regions. We also highlight how recent research has integrated ecological, anthropological, and genomic data to paint a fuller picture of these adaptive patterns. Finally, we discuss the biomedical implications of these evolutionary processes, including how historical adaptations influence current differences in skin cancer risk, vitamin-D metabolism, and pigmentary disorders. By tracing the evolutionary history of skin color, this review emphasizes the intricate interplay between our genetics, environment, and health. Full article

The Andalusian Black Cattle (Negra Andaluza) represents a genetic lineage linked to the ancient Eurasian aurochs, shaped by domestication events in the Near East and later introgressions from Italian and North African wild cattle. This study investigates the breed’s anthropological and historical origins, geographical distribution, and genetic structure. Key influences include historical use as draft animals, regional breeding preferences, and gene flow via transhumant routes. The genetic analysis reveals that Córdoba is the principal nucleus, accounting for 448 identified ancestors, compared to 252 in Huelva and 193 in Seville. In Córdoba, contributions of nodal ancestors through inbreeding loops reached a maximum of 0.0447, while mean inbreeding ($\overline{\mathrm{F}}$) was 0.000949 and mean coancestry ($\overline{\mathrm{C}}$) was 0.000475, indicating moderate but geographically structured genetic drift. In contrast, areas with better connectivity showed higher heterogeneity and lower inbreeding contributions. Canonical discriminant analysis (CDA) revealed that the first discriminant function (F1) explained 79.72% of the variation among groups, primarily driven by nodal ancestors and inbreeding loops. Despite these signs of inbreeding, historical transhumance has helped preserve overall genetic diversity. These findings offer essential insights for conservation programs aimed at maintaining both the genetic integrity and adaptive potential of this historically and culturally important breed. Full article

Recent attempts to reconcile the doctrine of original sin with evolutionary theory have sought scientific validation for the historicity of Adam and Eve, particularly through arguments for a single ancestral pair. This paper critically examines such efforts, arguing that they constitute a disguised form of creation science, selectively engaging with evolution to preserve classical Christian anthropology. Through biblical exegesis, theological hermeneutics, and biological research, this study demonstrates that these approaches rest on uncertain scientific and theological premises. Genesis 1–11 is sapiential rather than historical, and genetic evidence biological evidence points to population-oriented emergence of our species. Theological attempts to preserve a literal Adam and Eve rest on an outdated view of revelation as mere information transfer, leading to conceptual confusion and misinterpretation. The pursuit of a historical Adam and Eve as a scientific reality ultimately distorts both theology and science, reducing theology to ideology and fundamentalism while undermining its engagement with mystery and transcendence. Full article

Objectives: To analyze Colombia’s current human population, we employed a population genetics approach enriched by genealogical, demographic, cultural, and historical data to learn about its evolutionary history and to elucidate ethnic belonging and relationship patterns between its various population groups. Materials and Methods: This study relied on ten autosomal microsatellite markers (STRs) from 1364 individuals surveyed throughout the country. Aside from employing descriptive population genetics, substructure, and distance analysis, this investigation evaluated genealogical, demographic, cultural, and historical data gathered from fieldwork surveys. Results: We present a genetic diversity and ethnic belonging map of Colombia that suggests a nine-population classification (under Afro-descendant, Native American, and Admixed ethnicity labels) that reveals traces of evolutionary processes discussed in the light of the recent literature based on modern molecular markers. Colombia’s genetic trace from Africa varies among territories, as shown here by two differentiated Afro ancestral components, Chocó and San Andrés, in addition to the Afro admixture category. Some Native American peoples like the Wayúu, Zenú, Ticuna, Huitoto, and Cocama have a genetic configuration that remains relatively preserved. Nevertheless, other self-determined indigenous peoples who remain in their ancestral territories exhibit genetic introgression that is also reflected by their acculturation levels such as the Pijaos, Kankuamos, and Mokaná. The population classified as European admixture also shows an ancestral component that seems to be more fixed throughout neighboring territories but whose fluctuation depends on its specific demographic histories. Conclusions: This study combines STRs, a targeted sampling strategy, and advanced analytical tools to explore Colombia’s genetic diversity and evolutionary history. Locally, these findings enhance the understanding of genetics in a post-conflict society, crucial for human identification. Globally, they contribute to human population genetics, helping address evolutionary questions using data from diverse human ancestries and geographies. Full article

Background/Objectives: The Human Leukocyte Antigen (HLA) system is composed of a set of genes that codify glycoproteins presenting antigenic proteins to clonotypic T cell receptors in order to start the immune response. Class I and Class II classical loci exhibit high allelic diversity; some of them (or their specific combinations that form haplotypes) are quasi-specific or highly frequent in certain populations and thus are useful for population genetic studies. In this study, an HLA genetic comparison of Chimila, Wayúu, Wiwa, and Barranquilla Colombian nonrelated healthy individuals was carried out together with other populations from all over the world to trace their genetic origin, obtain a virtual transplantation list, and inform future epidemiology studies. Methods: HLA-A, -B, -DRB1, and -DQB1 alleles were sequenced using the PCR-SSOP–Luminex method to analyze the HLA genetic profile of each individual. The data obtained were subsequently processed with standard software to obtain HLA alleles, haplotype frequencies, and genetic distances compared with data from global populations to generate relatedness dendrograms and carry out a correspondence analysis. Results: The results obtained place the Chimila, Wayúu, and Wiwa populations phylogenetically close to the other North and South Amerindian populations included in this study. Amerindians are genetically separated from the rest of the world’s populations. Chimila, Wayúu, and Wiwa present unique extended HLA haplotypes and specific alleles, such as HLA-B*48 or HLA-A*24:01, shared with Oceanian populations. Conclusions: These genetic results and anthropological data support prehistorical trans-Pacific (bidirectional) contacts that contributed to the settlement of America and also suggest that the effects of ancient European gene flow cannot be discarded. Full article

Based on an examination of the outlooks and practices held by past and present Negev desert viticulturists vis-à-vis their environs, the article offers insights into how the wine sector can bolster its response to current climate adversity. The discussion fuses bio-archaeological research on the evolution of ancient grape cultivars (Vitis vinifera) in the Negev with an extensive ethnographic inquiry into the ongoing wine revival in arid southern Israel. Ancient DNA analysis of relic grape material led to the identification of an historical Negev viticulture lineage. The findings provide a temporal framework for contextualizing tphe interrelated anthropological data obtained on contemporary dryland viticulturalists and wine makers in Israel. Since the climate in the Negev has remained relatively stable over the last several millennia, it makes for an apt point of comparison via which to gauge the outlooks held by both historical and modern viticulturalists towards the local landscape. We suggest enacting two evidence-based adjustments to counter ecological instabilities: the holistic revival and applied renewal of historical cultivars, and the attendant agronomic routines that sustained their growth in the past. A more nuanced understanding of the unique terroir arid viticulturalists are operating in, together with the learned incorporation of the hardy genetic traits of age-old cultivars, will benefit wine growers to attune their responses to the array of challenges wrought by climate change on the wine industry. It is therefore our hope that the research methodologies and heritage-oriented horticultural perspectives we present in this paper will prove beneficial to broader wine growing regions (pax-Mediterranean and beyond) who are fortunate to likewise possess their own rich viticultural histories and lineages. Full article

Genetic similarity determines the extent to which two genotypes share common genetic material. It can be measured in various ways, such as by comparing DNA sequences, proteins, or other genetic markers. The significance of genetic similarity is multifaceted and encompasses various fields, including evolutionary biology, medicine, forensic science, animal and plant breeding, and anthropology. Genetic similarity is an important concept with wide application across different scientific disciplines. The research material included 21 rapeseed genotypes (ten interspecific Brassicaceae hybrids of F₂ generation and 11 of their parental forms) and 146 alleles obtained using 21 ISSR molecular markers. In the presented study, six measures for calculating genetic similarity were compared: Euclidean, Jaccard, Kulczyński, Sokal and Michener, Nei, and Rogers. Genetic similarity values were estimated between all pairs of examined genotypes using the six measures proposed above. For each genetic similarity measure, the average, minimum, maximum values, and coefficient of variation were calculated. Correlation coefficients between the genetic similarity values obtained from each measure were determined. The obtained genetic similarity coefficients were used for the hierarchical clustering of objects using the unweighted pair group method with an arithmetic mean. A multiple regression model was written for each method, where the independent variables were the remaining methods. For each model, the coefficient of multiple determination was calculated. Genetic similarity values ranged from 0.486 to 0.993 (for the Euclidean method), from 0.157 to 0.986 (for the Jaccard method), from 0.275 to 0.993 (for the Kulczyński method), from 0.272 to 0.993 (for the Nei method), from 0.801 to 1.000 (for the Rogers method) and from 0.486 to 0.993 (for the Sokal and Michener method). The results indicate that the research material was divided into two identical groups using any of the proposed methods despite differences in the values of genetic similarity coefficients. Two of the presented measures of genetic similarity (the Sokal and Michener method and the Euclidean method) were the same. Full article

DNA analysis plays a crucial role in forensic investigations, helping in criminal cases, missing persons inquiries, and archaeological research. This study focuses on the DNA concentration in different skeletal elements to improve human identification efforts. Ten cases of unidentified skeletal remains brought to the Institute of Forensic Medicine in Timisoara, Romania, underwent DNA analysis between 2019 and 2023. The results showed that teeth are the best source for DNA extraction as they contain the highest concentration of genetic material, at 3.68 ng/µL, compared to the petrous temporal bone (0.936 ng/µL) and femur bone (0.633 ng/µL). These findings highlight the significance of teeth in forensic contexts due to their abundant genetic material. Combining anthropological examination with DNA analysis enhances the understanding and precision of identifying human skeletal remains, thus advancing forensic science. Selecting specific skeletal elements, such as the cochlea or teeth, emerges as crucial for reliable genetic analyses, emphasizing the importance of careful consideration in forensic identification procedures. Our study concludes that automated DNA extraction protocols without liquid nitrogen represent a significant advancement in DNA extraction technology, providing a faster, more efficient, and less labor-intensive method for extracting high-quality DNA from damaged bone and tooth samples. Full article

One of the periods with the greatest social, cultural, and religious changes was, without a doubt, the European medieval period. The concept of “Family” was one of the fields that gradually evolved, from individuals who shared the same biological lineage, to members of the same “House”. One of the ways to study the concept of “Family” in ancient periods is through a bioarchaeological perspective, where both anthropology and genetics have proven to be essential disciplines for studying “Families”. Through burial rituals, observing whether the graves were single or multiple, as is carried out in the study of human remains, we discuss the profound contribution of anthropology to the “Family” investigation, through mobility studies, the investigation of biological sex, observing certain congenital anomalies or, even, the study of certain ancient infectious diseases. Concerning genetics, the study of bones or teeth allows us to determine whether individuals were from the same close family or if they belonged to the same lineage through the maternal and paternal sides, being one of the only scientific ways of proposing social relationships between individuals, such as that created through adoption. Full article

Mitochondrial (mt) DNA plays an important role in the fields of forensic and clinical genetics, molecular anthropology, and population genetics, with mixture interpretation being of particular interest in medical and forensic genetics. The high copy number, haploid state (only a single haplotype contributed per individual), high mutation rate, and well-known phylogeny of mtDNA, makes it an attractive marker for mixture deconvolution in damaged and low quantity samples of all types. Given the desire to deconvolute mtDNA mixtures, the goals of this study were to (1) create a new software, MixtureAceMT™, to deconvolute mtDNA mixtures by assessing and combining two existing software tools, MixtureAce™ and Mixemt, (2) create a dataset of in-silico MPS mixtures from whole mitogenome haplotypes representing a diverse set of population groups, and consisting of two and three contributors at different dilution ratios, and (3) since amplicon targeted sequencing is desirable, and is a commonly used approach in forensic laboratories, create biological mixture data associated with two amplification kits: PowerSeq™ Whole Genome Mito (Promega™, Madison, WI, USA) and Precision ID mtDNA Whole Genome Panel (Thermo Fisher Scientific by AB™, Waltham, MA, USA) to further validate the software for use in forensic laboratories. MixtureAceMT™ provides a user-friendly interface while reducing confounding features such as NUMTs and noise, reducing traditionally prohibitive processing times. The new software was able to detect the correct contributing haplogroups and closely estimate contributor proportions in sequencing data generated from small amplicons for mixtures with minor contributions of ≥5%. A challenge of mixture deconvolution using small amplicon sequencing is the potential generation of spurious haplogroups resulting from private mutations that differ from Phylotree. MixtureAceMT™ was able to resolve these additional haplogroups by including known haplotype/s in the evaluation. In addition, for some samples, the inclusion of known haplotypes was also able to resolve trace contributors (minor contribution 1–2%), which remain challenging to resolve even with deep sequencing. Full article

Diagnoses in forensic science cover many disciplinary and technical fields, including thanatology and clinical forensic medicine, as well as all the disciplines mobilized by these two major poles: criminalistics, ballistics, anthropology, entomology, genetics, etc. A diagnosis covers three major interrelated concepts: a categorization of pathologies (the diagnosis); a space of signs or symptoms; and the operation that makes it possible to match a set of signs to a category (the diagnostic approach). The generalization of digitization in all sectors of activity—including forensic science, the acculturation of our societies to data and digital devices, and the development of computing, storage, and data analysis capacities—constitutes a favorable context for the increasing adoption of artificial intelligence (AI). AI can intervene in the three terms of diagnosis: in the space of pathological categories, in the space of signs, and finally in the operation of matching between the two spaces. Its intervention can take several forms: it can improve the performance (accuracy, reliability, robustness, speed, etc.) of the diagnostic approach, better define or separate known diagnostic categories, or better associate known signs. But it can also bring new elements, beyond the mere improvement of performance: AI takes advantage of any data (data here extending the concept of symptoms and classic signs, coming either from the five senses of the human observer, amplified or not by technical means, or from complementary examination tools, such as imaging). Through its ability to associate varied and large-volume data sources, but also its ability to uncover unsuspected associations, AI may redefine diagnostic categories, use new signs, and implement new diagnostic approaches. We present in this article how AI is already mobilized in forensic science, according to an approach that focuses primarily on improving current techniques. We also look at the issues related to its generalization, the obstacles to its development and adoption, and the risks related to the use of AI in forensic diagnostics. Full article

The field of mitochondrial genomics has advanced rapidly and has revolutionized disciplines such as molecular anthropology, population genetics, and medical genetics/oncogenetics. However, mtDNA next-generation sequencing (NGS) analysis for matrilineal haplotyping and phylogeographic inference remains hindered by the lack of a consolidated mitogenome database and an efficient bioinformatics pipeline. To address this, we developed a customized human mitogenome database (hMITO DB) embedded in a CLC Genomics workflow for read mapping, variant analysis, haplotyping, and geo-mapping. The database was constructed from 4286 mitogenomes. The macro-haplogroup (A to Z) distribution and representative phylogenetic tree were found to be consistent with published literature. The hMITO DB automated workflow was tested using mtDNA-NGS sequences derived from Pap smears and cervical cancer cell lines. The auto-generated read mapping, variants track, and table of haplotypes and geo-origins were completed in 15 min for 47 samples. The mtDNA workflow proved to be a rapid, efficient, and accurate means of sequence analysis for translational mitogenomics. Full article

(1) Background: Bacillus cereus biovar anthracis (Bcbva) was the causative agent of an anthrax-like fatal disease among wild chimpanzees in 2001 in Côte d’Ivoire. Before this, there had not been any description of an anthrax-like disease caused by typically avirulent Bacillus cereus. Genetic analysis found that B. cereus had acquired two anthrax-like plasmids, one a pXO1-like toxin producing plasmid and the other a pXO2-like plasmid encoding capsule. Bcbva caused animal fatalities in Cameroon, Democratic Republic of Congo, and the Central African Republic between 2004 and 2012. (2) Methods: The pathogen had acquired plasmids in the wild and that was discovered as the cause of widespread animal fatalities in the early 2000s. Primate bones had been shipped out of the endemic zone for anthropological studies prior to the realized danger of contamination with Bcbva. Spores were isolated from the bone fragments and positively identified as Bcbva. Strains were characterized by classical microbiological methods and qPCR. Four new Bcbva isolates were whole-genome sequenced. Chromosomal and plasmid phylogenomic analysis was performed to provide temporal and spatial context to these new strains and previously sequenced Bcbva. Tau and principal component analyses were utilized to identify genetic and spatial case patterns in the Taï National Park anthrax zone. (3) Results: Preliminary studies positively identified Bcbva presence in several archival bone fragments. The animals in question died between 1994 and 2010. Previously, the earliest archival strains of Bcbva were identified in 1996. Though the pathogen has a homogeneous genome, spatial analyses of a subset of mappable isolates from Taï National Park revealed strains found closer together were generally more similar, with strains from chimpanzees and duikers having the widest distribution. Ancestral strains were located mostly in the west of the park and had lower spatial clustering compared to more recent isolates, indicating a local increase in genetic diversity of Bcbva in the park over space and time. Global clustering analysis indicates patterns of genetic diversity and distance are shared between the ancestral and more recently isolated type strains. (4) Conclusions: Our strains have the potential to unveil historical genomic information not available elsewhere. This information sheds light on the evolution and emergence of a dangerous anthrax-causing pathogen. Full article

Mitochondrial DNA (mtDNA) is a small fraction of our hereditary material. However, this molecule has had an overwhelming presence in scientific research for decades until the arrival of high-throughput studies. Several appealing properties justify the application of mtDNA to understand how human populations are—from a genetic perspective—and how individuals exhibit phenotypes of biomedical importance. Here, I review the basics of mitochondrial studies with a focus on the dawn of the field, analysis methods and the connection between two sides of mitochondrial genetics: anthropological and biomedical. The particularities of mtDNA, with respect to inheritance pattern, evolutionary rate and dependence on the nuclear genome, explain the challenges of associating mtDNA composition and diseases. Finally, I consider the relevance of this single locus in the context of omics research. The present work may serve as a tribute to a tool that has provided important insights into the past and present of humankind. Full article