Archaeologists have uncovered the earliest known case of Turner syndrome, a genetic condition affecting sex chromosome development, from a 1,500 year old burial in England. The findings, published this week, demonstrate new techniques for identifying chromosomal disorders and diversity in ancient genomes.
Infant Skeleton Had Just One X Chromosome
Researchers from the University of Oxford analyzed DNA preserved in the bones and teeth of an infant girl who lived during the 5th-6th century AD in North Yorkshire, England [1]. The remains showed signs of multiple developmental conditions, including deafness and skeletal abnormalities. Genetic analysis revealed the child had just one X chromosome, instead of the usual XX female pattern [2].
This monosomy X pattern is the hallmark of Turner syndrome, which occurs in roughly 1 in 2,000 to 1 in 5,000 live female births today [3]. Girls with Turner syndrome often experience short stature, infertility, heart defects, and other developmental issues. The ancient case reveals this condition has been present for millennia.
New Techniques Probe Ancient Genomes
Advances in ancient DNA analysis have enabled screening for genetic abnormalities in long-deceased individuals. The research team developed special computational tools tailor-made for assessing chromosomal abnormalities [4]:
Technique Purpose
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Variant filtering & phasing Determine parent-of-origin chromosome contributions
Read depth comparison Identify regions of chromosomal loss/gain
Haplotype inference Assess sex chromosome constitution (X0, XX, XY, etc.)
Applying these approaches uncovered several likely cases of Down’s syndrome, Klinefelter syndrome, and other variations across remains from multiple archaeological sites [5].
Findings Shed Light on Ancient Attitudes
Identifying genetic conditions in ancient genomes not only reveals their presence throughout history, but also provides clues to how such disorders may have been perceived and treated in earlier societies [6].
The researchers emphasize ancient genomes should be interpreted with care to avoid projecting modern concepts of disease onto the past [7]. Nonetheless, combined archaeological and genetic evidence can offer insights into disability, diversity, and identity in antiquity.
Further screening of ancient DNA is likely to uncover more historical cases of sex chromosome variations like Turner syndrome and illuminate when, where and how such conditions originated [8]. Integrating molecular diagnostics with studies of long-term change and variation will be an important direction for bioarchaeology.
Outlook: Expanded Ancient Genome Analysis Underway
Massive DNA sequencing projects targeting thousands of ancient Eurasian genomes are already underway [9], ensuring a trove of new discoveries related to ancient health and diversity will emerge in coming years.
Bioinformatics specialist Dr. Ella Al-Shamahi commented, “This is just the beginning – using this new tailored approach for recognizing genetic conditions, we’ll be able to uncover more historical cases of chromosomal disorders across space and time.”
“Genetic conditions we think of as relatively modern may turn out to have deep roots,” she added.
The infant’s skeletal remains have now been reburied by indigenous British groups who performed funerary rituals. Further analysis of preserved DNA will shed more light on chromosomal abnormalities and development throughout human prehistory.
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