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| Figure 1: Archaeological site where the individual with Turner's syndrome as located (Source: Francis Crick Institute) |
There has been much discussion among archaeologists and bioarchaeologists concerning how best to assess sex and gender in ancient populations. Arguments have been made that it is difficult and unfair to apply modern conceptions of gender on past populations, particularly given the stark differences in time and social structures that existed among past and early human populations. Approaches utilizing burial goods have most often been used to evaluating gender among ancient populations, but these have come under criticism, resulting in many scholars avoiding the question and area of study all together. This means that there is a gap in our knowledge concerning sex and gender among early human populations. Rather than back down from this challenge doctoral student Kakia Anastasiadou, based at the Francis Crick Institute, and scholars at the University of Oxford, University of York, and Oxford Archaeology turned to ancient DNA analyses to help refine the methods and techniques concerning these studies.
In 2024 Anastasiadou and her coauthors published the results of this genetic study in the journal, Communications Biology. Utilizing genetic data from ancient British populations dating as early as 2500 years ago to more contemporary populations (from 250 years ago) Anastasiadou et al. sought to refine the ancient DNA methods for identifying chromosomal sex. While there have been various breakthroughs in studying and using ancient DNA there remain some challenges, largely due to the degradation of ancient DNA samples over time and risks of contaminating such samples. Anastasiadou et al.’s work took these issues into account and identified a workaround that enabled them to better evaluate the ancient DNA samples they studied, enabling them to better identify chromosomal sex among the individuals under study.
Their results were very fruitful. They made two important discoveries: the earliest case of an individual with Turner’s syndrome (a female who only has one X chromosome instead of two; Figure 1) and the earliest case of an individual with Jacob’s syndrome (a male with an extra Y chromosome). Both syndromes carry with them specific health risks, but there are no specific means of identifying either of these syndromes via macroscopic/morphological analyses. This also applies to Kleinfelter’s syndrome (a male with an extra X chromosome), of which they discovered three in their sample.
The team believes this refined ancient DNA method will better enable future scholars to evaluate gender among ancient and early human populations. This would be completed through a better and more accurate understanding of genetic sex and a comparison of any burial goods or other items found with the deceased. The team had hoped to complete that with these five individuals, but they were unable to do so due to a lack of burial goods found with any of the individuals. This was not atypical of their time periods or socioeconomic statuses, though.
References
Anastasiadou, K., Silva, M., Booth, T. et al. Detection of chromosomal aneuploidy in ancient genomes. Commun Biol 7, 14 (2024). https://doi.org/10.1038/s42003-023-05642-z
The Francis Crick Institute. (2024, January 11). First prehistoric person with Turner syndrome identified from ancient DNA. Retrieved from The Francis Crick Institute: https://www.crick.ac.uk/news/2024-01-11_first-prehistoric-person-with-turner-syndrome-identified-from-ancient-dna
University of Oxford. (2024, January 11). New technique identifies earliest cases of genetic disorders from ancient DNA. Retrieved from University of Oxford: https://www.ox.ac.uk/news/2024-01-11-new-technique-identifies-earliest-cases-genetic-disorders-ancient-dna


