Researchers Using Ancient DNA Identify Prehistoric Individuals with Turner Syndrome
New DNA analysis reveals hidden lives in ancient Britain. Researchers have identified the first prehistoric person with Turner syndrome and the earliest known case of Jacob’s syndrome, offering insights into health & gender perceptions across millennia.
By Richard Cole · January 12, 2024
A new study published yesterday in Communications Biology rewrites our understanding of ancient health and societal perceptions of gender, with researchers from the Francis Crick Institute identifying the first prehistoric person with mosaic Turner syndrome and the earliest known case of Jacob’s syndrome in the Early Medieval Period.
Using a novel computational method to analyze ancient DNA samples from the Thousand Ancient British Genomes project, the team also uncovered three individuals with Klinefelter syndrome and an infant with Down Syndrome across various historical periods in Britain.
Most human cells boast 23 pairs of chromosomes, with the sex chromosomes typically XX in females and XY in males. However, aneuploidy occurs when there’s an extra or missing chromosome, often affecting the sex chromosomes and leading to subtle differences like delayed development or height variations.
The challenge with ancient DNA lies in its degradation and contamination, making it difficult to accurately detect sex chromosome variations. To overcome this hurdle, the Crick team developed a computational method that meticulously analyzes the number of X and Y chromosome copies, comparing them to a predicted baseline.
This method, applied to a large dataset of ancient British individuals, yielded remarkable results. Six individuals with aneuploidy were identified across five locations spanning the Iron Age to the Post-Medieval Period.
Among these discoveries was a 2500-year-old individual with mosaic Turner syndrome, characterized by one X chromosome instead of two. Notably, their bones suggested they hadn’t experienced puberty, adding a unique prehistoric chapter to the understanding of this condition.
The study also identified the earliest known case of Jacob’s syndrome (extra Y chromosome) from the Early Medieval Period, alongside three individuals with Klinefelter syndrome (extra X chromosome) from different eras. Interestingly, all three Klinefelter individuals were taller than average and displayed signs of delayed puberty, highlighting shared physical traits across time periods.
“Through precisely measuring sex chromosomes, we were able to show the first prehistoric evidence of Turner syndrome… and the earliest known incidence of Jacob’s syndrome,” commented Kakia Anastasiadou, lead author of the study.
"It's hard to see a full picture of how these individuals lived and interacted with their society, as they weren't found with possessions or in unusual graves, but it can allow some insight into how perceptions of gender identity have evolved over time."
Beyond individual cases, the study’s significance lies in its broader implications. The new method not only identifies aneuploidy with greater accuracy but also classifies DNA contamination and analyzes incomplete ancient DNA, opening doors for studying previously challenging archaeological remains.
“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,” emphasized Pontus Skoglund, group leader of the Ancient Genomics Laboratory at the Crick. “I hope this type of approach will be applied as the common resource of ancient DNA data continues to grow.”
The study, a collaborative effort involving researchers from the Francis Crick Institute, University of Oxford, University of York, and Oxford Archaeology, paves the way for a deeper understanding of ancient health, societal norms, and the evolving concept of gender identity. With continued advancements in ancient DNA analysis, the past continues to whisper secrets, offering invaluable insights into the human experience across the ages.