Oxford Archaeology has contributed to a pioneering new study identifying genetic conditions from ancient DNA for the first time.

Working with researchers at the Francis Crick Institute and  University of York they have developed a new technique to identify the earliest known people to have suffered from various genetic disorders affecting the number of sex chromosomes.

The findings have been published today in Communications Biology.

Human DNA is arranged in pairs of molecules called chromosomes. The sex chromosomes, which determine the genetic sex of a person, are named X and Y. Usually, females have two X chromosomes (XX) and males have an X and Y chromosome (XY).

Sometimes a person's cells have an extra or missing chromosome. If this occurs in the sex chromosomes, this can cause differences such as delayed development or changes in height around puberty.

Led by the Francis Crick Institute, the research team developed a new technique to measure the number of chromosomes in ancient genomes more precisely.

The new method has been used to identify an infant with Down's Syndrome (where a person has three copies of chromosome 21 instead of two) from the Iron Age.

They also identified the first prehistoric person with mosaic Turner syndrome (where one of the X chromosomes in a female is missing or partially missing), who lived about 2,500 years ago.

Plus the earliest known person with Jacob’s syndrome, (where a male has an extra Y chromosome, XYY) , in the Early Medieval Period, and three people with Klinefelter syndrome, where a male has an extra X chromosome, XXY, across a range of time periods.

Oxford Archaeology and its partners in the project worked to identify suitable samples from human remains retrieved in the course of archaeological investigations at Magdalen College in Oxford and the Trinity Burial Ground in Hull. 

Kakia Anastasiadou, PhD student in the Ancient Genomics Laboratory at the Crick, and first author of the study, said: “Through precisely measuring sex chromosomes, we were able to show the first prehistoric evidence of Turner syndrome 2,500 years ago, and the earliest known incidence of Jacob’s syndrome around 1,200 years ago.

"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.”

Rick Schulting, Professor of Scientific and Prehistoric Archaeology at the University of Oxford, added: “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.”