2,500-year-old skeletons reveal familiar genetic conditions in the Iron Age, study says
Researchers in the United Kingdom have discovered a way to identify genetic conditions in people who lived thousands of years ago.
In a new study, published Jan. 11 in the journal Communications Biology, researchers found sex-chromosome syndromes in DNA from six ancient skeletons unearthed in Britain.
“In our study … we reconstruct the profiles of 6 individuals with aneuploidy (additional or missing chromosomes in their karyotype) from ancient Britain,” Kakia Anastasiadou, a researcher in the study, said in a post on X, formerly known as Twitter.
Anastasiadou and her colleagues at the Francis Crick Institute in London examined the DNA from these ancient people and found the presence of four familiar conditions: Down syndrome, Turner syndrome, Jacob’s syndrome and Klinefelter syndrome.
Human cells have 23 pairs of DNA molecules, called chromosomes. Sex chromosomes are typically XX for females and XY for males.
Sex-chromosomal conditions occur when a person’s cells have either an extra or missing chromosome. When this happens, we often see characteristics like different behavior, delayed development or variations in appearance.
Using a new computational method, the researchers said they were able to measure the number of chromosomes by counting the copies of X and Y chromosomes and comparing the resulting number to a predicted baseline.
With this method, the group identified the first prehistoric person with Turner syndrome (a female with only one X chromosome instead of two) from about 2,500 years ago, according to the study.
They also identified the first person with Jacob’s syndrome (a male with an extra Y chromosome — XYY), a baby with Down syndrome (an extra chromosome) from the Iron Age and three people with Klinefelter syndrome (males with an extra X chromosome — XXY) from several different time periods, researchers said.
Their findings straddle medicine and archaeology.
“We hope this will contribute information for archaeologists to understand past societies, and a historical perspective for present-day patients and clinicians,” Pontus Skoglund, a researcher in the study, said in a post on X.
From this study, experts may get a clearer picture of how these conditions existed in the population over time, and how societies responded to them.
“The more studies like this are done, the better we can explore how past societies viewed sex and gender, or in the case of certain (genetic syndromes), how disability may have been understood in the past,” archaeologist Ulla Moilanen told Nature.
The group’s findings could give experts a view into the way older societies treated sex and differences, according to the study. Their methods could also open the door for experts to discover more about ancient peoples and customs.
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