Decoding Ancient Genomes: Turner Syndrome Unveiled in Prehistoric Remains
Exploring Genetic & Gender Diversity in Ancient Societies through Novel Computational Techniques
Turner syndrome, a genetic condition marked by the absence of one X chromosome, has been identified in a prehistoric individual dating back 2,500 years, pioneering a breakthrough in the study of ancient genetic diversity. Published in Communications Biology1, the research, led by co-authors Kakia Anastasiadou and Rick Schulting, utilized a novel computational method to analyze sex chromosomes, revealing unique genetic configurations in several individuals from different historical periods. This discovery not only sheds light on the lives of these ancient people but also offers a glimpse into the evolution of gender perceptions over time.
Genomic Insights into Ancient Lives
The emergence of ancient genomics has transformed the study of human biology over millennia. The Thousand Ancient British Genomes project provided a robust database, enabling the team to develop a computational technique to precisely determine sex chromosomes. This method, combined with osteological analysis, proved instrumental in overcoming the limitations of traditional methods, particularly for incomplete or non-adult skeletons.
Case Study: A Mosaic Turner Syndrome
The study focused on a young adult female from the Early Iron Age with mosaic Turner syndrome, revealing a mix of cells with one and two X chromosomes. The woman exhibited osteological evidence of delayed growth and lacked signs of puberty, providing valuable insights into the medical history and societal experiences of individuals with Turner syndrome in ancient times.
Beyond Binary Perspectives
Co-author Rick Schulting emphasizes the groundbreaking potential of this study, stating,
"The results of this study open up exciting new possibilities for the study of sex in the past, moving beyond binary categories in a way that would be impossible without the advances being made in ancient DNA analysis."
This shift from binary frameworks allows for a more nuanced understanding of ancient societies and challenges previously held assumptions.
Diverse Genetic Narratives
The research identified individuals with other sex chromosome configurations, including Jacobs syndrome (XYY), Klinefelter syndrome (XXY), and an Iron Age infant with Down syndrome. These findings highlight the diversity of genetic conditions present in ancient populations and emphasize the role of genomic analysis in unraveling complex aspects of their lives.
Intersecting Genomics and Anthropology
Co-author Pontus Skoglund envisions the broader application of this method to challenging archaeological remains. He states,
"Combining this data with burial context and possessions can allow for a historical perspective of how sex, gender, and diversity were perceived in past societies."
This interdisciplinary approach promises a richer understanding of ancient cultures and their perspectives on identity and diversity.
In the intersection of genetics and anthropology, this research not only brings forth the stories of individuals from the past but also prompts a reevaluation of historical narratives through a more inclusive lens. As ancient DNA data continues to grow, this pioneering approach holds the key to unlocking more secrets buried in the genomes of our ancestors.
Anastasiadou, K., Silva, M., Booth, T., Speidel, L., Audsley, T., Barrington, C., Buckberry, J., Fernandes, D., Ford, B., Gibson, M., Gilardet, A., Glocke, I., Keefe, K., Kelly, M., Masters, M., McCabe, J., McIntyre, L., Ponce, P., Rowland, S., … Skoglund, P. (2024). Detection of chromosomal aneuploidy in ancient genomes. Communications Biology, 7(1). https://doi.org/10.1038/s42003-023-05642-z