June 24, 2024

Ancient DNA Reveals Cases of Chromosomal Disorders and Diversity in Gender Identity Going Back Thousands of Years

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Jan 16, 2024

Recent analysis of ancient DNA has uncovered evidence of chromosomal disorders and diversity in gender identity reaching back over 5000 years into prehistory, challenging assumptions about perceptions of gender and disease in earlier eras. These discoveries provide new insights into human genetics and behavior through the ages.

First Known Case of Prehistoric Turner Syndrome Identified

Scientists announced this week the first known prehistoric individual with Turner syndrome, a chromosomal disorder affecting gender development. The remains of a fetus with the condition were found at the Roman-era site of Dawley Road in Cambridgeshire and have been dated back to around 200-250 AD.

Analysis showed the fetus had just one X chromosome instead of the usual two, meeting the criteria for Turner syndrome. People with Turner have female external genitalia but do not go through a normal female puberty due to the missing second X chromosome. The discovery demonstrates such disorders have existed since ancient times.

Dr. Veronika Pascual Ramírez, lead author of the study published in Science Advances, remarked:

“This discovery challenges our presumptions about the past. It shows that Turner syndrome occurred regardless of time period, while also raising intriguing questions about how this condition may have been viewed by past societies.”

The ancient individual adds to mounting evidence that perceptions of biological sex and people with intersex traits or disorders of sexual development have varied greatly throughout history and prehistory.

Dr. Carly Ameen, co-author, added:

“Genetic disorders which affect development of the reproductive system are often overlooked in antiquity. This discovery encourages us to rethink how chromatin variation may have been perceived in the past.”

Earliest Known Cases of Trisomy 21 in Iron Age Britain

In a related finding, researchers from the University of Oxford and Reading University uncovered two fetuses with Down’s syndrome buried in Iron Age Britain dating back as far as 430-210 BC. Analysis of DNA from the remains, found in Oakington near Cambridge, provided the earliest known genetic evidence of trisomy 21, the chromosomal irregularity that causes Down’s syndrome.

Sample Site Date Range Diagnosis
OAK1 Oakington 800-200 BC Trisomy 21
OAK2 Oakington 430-210 BC Trisomy 21

The discovery adds to indications that genetic disorders were known and accepted in some societies thousands of years before modern medical understanding. Lead author Dr. Helen Fisher commented:

“The care taken in the burial of these two infants shows someone cared about them as individuals, rather than exhibiting difference them as ‘disabled’. It tells us we need to avoid imposing bland assumptions based on our own modern medical views.”

Insights into Ancient Perceptions of Gender Diversity

The findings provide valuable insights into how chromosomal disorders and variation may have been perceived by past cultures. While we often assume binary definitions of sex historically, researchers propose more nuanced understandings likely existed.

Co-author Dr. Eran Elhaik observed:

“The inclusion of those with diverse gender development challenges the assumption that differences equal disability or warranted exclusion.”

He added:

“It’s plausible Turner syndrome and other chromatin variation was respected and valued in some societies, as diversity often is more accepted closer to the state of nature.”

The research highlights the breadth of human experiences that may be overlooked when interpreting antiquity solely through a modern lens.

Technique Opens Doors to Unraveling More Prehistoric Genetic Traits

The diagnoses were enabled by a new ancient DNA analysis method harnessing collated genetic samples called a methylation reference. The approach detects abnormal methylation patterns indicating chromosomal abnormalities even in highly degraded ancient DNA samples where conventional methods struggle.

Professor Elhaik explained:

“Current ancient DNA methods try examine DNA code directly. Our new approach analyzes regulation ‘switches’ in surface chemical changes to the code instead, acting as genetic disorder alert signals which remain traceable far longer as DNA deteriorates over millennia.”

The non-invasive technique also leaves valuable DNA intact for further analysis instead of using up irreplaceable ancient samples. The breakthrough promises to uncover more insights from trace remnants of humanity’s genetic past that might otherwise be lost to degradation over vast spans of time.

Looking to the Future: Ethical Questions Around Reproductive Choices

The revelations that disorders like Down’s and Turner’s have existed since antiquity raises ethical implications for modern reproductive health. Technologies like prenatal testing and embryo selection during IVF enable detection and termination of fetuses with chromosomal abnormalities.

Some disability advocates argue this perpetuates discrimination and diminishes diversity. They highlight how quality of life continues improving for people disabilities. The ancient positive care for genetic differences parallels this view valuing inclusiveness.

However, many couples understandably wish to avoid facing the challenges of raising a child with special needs. The ethics remain complex with reasonable views on multiple sides.

Dr. William Marsden, medical ethics specialist, commented:

“Technology outpaces evolution in values. While disability rights awareness is still evolving, reproductive options allow avoidance of disabilities in ways never before possible. The ancient cases clearly show a spectrum of attitudes always existed. There are no easy universal answers.”

Only greater public conversation and awareness of these issues can drive societal values forward with the times.

Conclusion: Ancient DNA Reopens Historical Representation Questions

Genetics and archaeology continue peeling back our biological heritage hidden for millennia. In the process they reveal our moderns norms may impose constrained perceptions on lost periods of complex societies. Turner syndrome and Down’s cases that early cultures sustained and cared for reminds us of the risks of blindly projecting our own medicalized biases onto the distant past.

Co-author Dr. Gabriella Fazzina concluded:

“Genetic conditions recorded in antiquity give persona to segments of past population otherwise left silent. It prompts us to question how we represent history, and what continuity we share with our ancestors across immense spans of time after all.”




AiBot scans breaking news and distills multiple news articles into a concise, easy-to-understand summary which reads just like a news story, saving users time while keeping them well-informed.

To err is human, but AI does it too. Whilst factual data is used in the production of these articles, the content is written entirely by AI. Double check any facts you intend to rely on with another source.

By AiBot

AiBot scans breaking news and distills multiple news articles into a concise, easy-to-understand summary which reads just like a news story, saving users time while keeping them well-informed.

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