Search Results (6)

Backround: The Hucul horse breed formed in the region of the Eastern Carpathians, likely through the natural crossbreeding of oriental horses. After World War II, their population significantly decreased, leading to the breeding being based on only 14 female lines, whose founders often had unknown origins. To preserve the breed’s unique characteristics, it is now part of a Genetic Resources Conservation Program, which prioritizes the maintenance of genetic diversity. This study aims to clarify the maternal relatedness of founder mares and assess genetic diversity using mitochondrial DNA (mtDNA). Methods: The hyper-variable region of the mitochondrial genome was analyzed in 57 horses. Pedigree records were used to trace genealogical lines, and molecular analysis focused on identifying maternal relationships between founder mares. Results: The analysis revealed close maternal kinships between the lines of Jagoda and Bajkałka, as well as Sekunda and Sroczka. In the Hucul population, seventeen mitochondrial haplotypes were identified, with three that did not match any established lines. The findings reveal discrepancies between pedigree records and mitochondrial DNA data, suggesting potential inaccuracies in the Hucul horse studbook. Conclusions: The findings highlight the importance of combining pedigree and molecular data to refine strategies to preserving genetic diversity, minimizing inbreeding, and improving the management the Genetic Resources Conservation Program. Full article

Background/Objectives: Emerging forensic genetic applications, such as forensic investigative genetic genealogy (FIGG), advanced DNA phenotyping, and distant kinship inference, increasingly require dense SNP genotype datasets. However, forensic-grade DNA often contains missing genotypes due to its quality and quantity limitations, potentially hindering these applications. Genotype imputation, a method that predicts missing genotypes, is widely used in population and medical genetics, but its utility in forensic genetics has not been thoroughly explored. This study aims to assess the performance of genotype imputation in forensic contexts and determine the conditions under which it can be effectively applied. Methods: We employed a simulation-based approach to generate realistic forensic SNP genotype datasets with varying numbers, densities, and qualities of observed genotypes. Genotype imputation was performed using Beagle software, and the performance was evaluated based on the call rate and imputation accuracy across different datasets and imputation settings. Results: The results demonstrate that genotype imputation can significantly increase the number of SNP genotypes. However, imputation accuracy was dependent on factors such as the quality of the original genotype data and the characteristics of the reference population. Higher SNP density and fewer genotype errors generally resulted in improved imputation accuracy. Conclusions: This study highlights the potential of genotype imputation to enhance forensic SNP datasets but underscores the importance of optimizing imputation parameters and understanding the limitations of the original data. These findings will inform the future application of imputation in forensic genetics, supporting its integration into forensic workflows. Full article

In 2021, we published the results of genomic analyses carried out on the famous bishop of Lund, Peder Winstrup, and the mummified remains of a 5–6-month-old fetus discovered in the same burial. We concluded that the two individuals were second-degree relatives and explored the genealogy of Peder Winstrup to further understand the possible relation between them. Through this analysis, we found that the boy was most probably Winstrup’s grandson and that the two were equally likely related either through Winstrup’s son, Peder, or his daughter, Anna Maria von Böhnen. To further resolve the specific kinship relation, we generated more genomic data from both Winstrup and the boy and implemented more recently published analytical tools in detailed Y chromosome- and X chromosome-based kinship analyses to distinguish between the competing hypotheses regarding maternal and paternal relatedness. We found that the individuals’ Y chromosome lineages belonged to different sub-lineages and that the X-chromosomal kinship coefficient calculated between the two individuals were elevated, suggesting a grandparent–grandchild relation through a female, i.e., Anna Maria von Böhnen. Finally, we also performed metagenomic analyses, which did not identify any pathogens that could be unambiguously associated with the fatalities. Full article

This paper examines the structure, message, and content of biblical genealogies in light of literary analysis and social anthropology. In particular, the focus is on the so-called “Table of Nations” in Genesis 10. My basic assumption is that most biblical genealogies are a literary genre employing various devices that carry a message using symbolic numbers, chiastic structure, and anticipation. These lists interact and supplement the narrative, sometimes as a foil to the story line. They are inserted at relevant points of change in the story of mankind from Adam and Eve to Joseph and his brothers. I even propose that these insertions are the earliest form of dividing the book of Genesis into installments, a precursor to weekly Torah readings and to the later division into chapters as in the printed text. The underlying message of this chapter is the value concept of the brotherhood of mankind stemming from one father—Noah. This innovative idea of universal kinship breaks with the common pagan view prevalent in antiquity that man’s place is to serve the gods and to have little or no personal identity. Note that the great urban cultures of ancient Egypt and Mesopotamia have left us no real records of family lineage other than the long king lists that reflect dynastic power. No doubt the importance of oral and written lineage stems from a tribal culture like that of the ancient Hebrews and their kindred. This overriding view even shaped the Nimrud pericope, describing his founding the urban centers of Babylon and Assyria. Genealogy became the natural medium expressing this message of universal kinship. Basic to understanding biblical genealogies is discerning two patterns of kinship, one, linear, stretching up to ten generations, and two, segmented genealogies, noting an eponymous “father” and his segmented offspring or wives. Our understanding of these structures in the Bible is shaped by the research of social anthropologists who studied oral genealogy among analphabetic tribes in Africa and the Middle East. I apply these observations and methodology in a detailed commentary on the Table of Nations. Full article

Although biological relationships are a universal reality for all human beings, the concepts of “family” and “family bond” depend on both the geographic region and the historical moment to which they refer. However, the concept of “family” can be determinant in a large variety of societies, since it can influence the lines of succession, inheritances and social relationships, as well as where and with whom an individual is buried. The relation between a deceased person and other members of a community, other individuals of the same necropolis, or even with those who are buried in the same tomb can be analysed from the genetic point of view, considering different perspectives: archaeological, historical, and forensic. In the present work, the concepts of “family” and “kinship” are discussed, explaining the relevance of genetic analysis, such as nuclear and lineage markers, and their contribution to genealogical research, for example in the heritage of surnames and Y-chromosome, as well as those cases where some discrepancies with historical record are detected, such as cases of adoption. Finally, we explain how genetic genealogical analyses can help to solve some cold cases, through the analysis of biologically related relatives. Full article

The identification of human remains is challenging mostly due to the bad condition of the remains and the available background information that is sometimes limited. The current case report is related to the identification of an unknown soldier from the Estonian War of Independence (1918–1920). The case includes an anthropological study of the remains, examinations of documents found with the exhumed remains, and kinship estimations based on archival documents, and DNA analyses. As the preliminary data pointed to remains of male origin, Y-chromosomal STR (short tandem repeat) analyses of 22 Y-STR loci were used to analyze the exhumed teeth. Reference samples from individuals from two paternal lineages were collected based on archival documents. Y-chromosomal STR results for the tooth samples were consistent with a patrilineal relationship to only one reference sample out of two proposed paternal lineages. Based on the provided pedigrees in the consistent case, the Y-STR results are approximately four million times more likely if the tooth sample originated from an individual related along the paternal line to the matching reference sample, than if the tooth sample originated from another person in the general population. Special considerations have to be met when limited evidence is available. Full article