20 June 2024
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Researchers from the Francis Crick Institute, Oxford University, York University, and Oxford Archaeology have developed a novel method for measuring the number of chromosomes in ancient genomes with greater precision. This technique led to the identification of the first prehistoric person with mosaic Turner syndrome, a condition characterized by the presence of one X chromosome instead of two (XX). This individual lived approximately 2,500 years ago.

Ancient DNA Reveals Prehistoric Person with Turner Syndrome



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Published on: November 5, 2015 Description: An animated Health Sketch giving a brief explanation of what Turner Syndrome is.
What is Turner Syndrome?
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In a groundbreaking discovery, researchers have identified the first prehistoric person with Turner syndrome, a genetic condition characterized by the presence of only one X chromosome instead of the typical two. This remarkable finding, made possible through the analysis of ancient DNA, sheds new light on the history of genetic diversity and provides valuable insights into the experiences of individuals with Turner syndrome in ancient times.

Ancient DNA Unlocks the Past: A New Technique for Turner Syndrome Analysis

Researchers at the Francis Crick Institute, in collaboration with several other institutions, have developed a novel technique that enables more precise measurement of the number of chromosomes in ancient genomes. This breakthrough allows scientists to identify chromosomal abnormalities, such as Turner syndrome, with greater accuracy.

Ancient DNA Unveils Chromosomal Abnormalities: A Window into the Past

Using this innovative method, researchers analyzed ancient DNA from a large dataset of individuals spanning various time periods in British history. This analysis revealed six individuals with chromosomal aneuploidies, including Turner syndrome, Jacob’s syndrome (characterized by an extra Y chromosome), Klinefelter syndrome (characterized by an extra X chromosome), and Down Syndrome.

Prehistoric Turner Syndrome: A Case Study in Ancient DNA

Among the identified individuals, one stood out as the first prehistoric person with Turner syndrome. This individual lived approximately 2,500 years ago during the Iron Age. The analysis revealed that they had a mosaic form of Turner syndrome, meaning some cells had one copy of chromosome X while others had two.

Insights into the Lives of Individuals with Turner Syndrome: A Perspective from Ancient DNA

While the research team was unable to gather detailed information about the individual’s life, their burial customs suggest that they were treated with respect and care by their community. This finding challenges the notion that individuals with genetic conditions were marginalized or excluded in ancient societies.

Ancient DNA and Gender Identity: Understanding Diversity in the Past

This discovery highlights the importance of studying sex chromosomes in ancient DNA analysis. By examining the genetic makeup of individuals, researchers can gain insights into how perceptions of gender identity and diversity have evolved over time. This knowledge contributes to a more inclusive understanding of human history and challenges traditional binary categories of gender.

Ancient DNA: Expanding Our Knowledge of Ancient Genomes

The research team’s method has far-reaching implications beyond the study of Turner syndrome. It can be applied to analyze incomplete ancient DNA, classify DNA contamination, and investigate genetic diversity in archaeological remains that were previously difficult to analyze. This opens up exciting possibilities for further research and a deeper understanding of the genetic makeup of ancient populations.

FAQ’s

1. What is Turner syndrome?

Turner syndrome is a genetic condition characterized by the presence of only one X chromosome instead of the typical two. Individuals with Turner syndrome often have physical and developmental differences, including short stature, webbed neck, and heart problems.

2. How was the first prehistoric person with Turner syndrome identified?

Researchers at the Francis Crick Institute developed a novel technique that enables more precise measurement of the number of chromosomes in ancient genomes. Using this method, they analyzed ancient DNA from a large dataset of individuals spanning various time periods in British history, revealing six individuals with chromosomal aneuploidies, including Turner syndrome.

3. What can we learn from the discovery of the first prehistoric person with Turner syndrome?

This discovery sheds light on the history of genetic diversity and provides valuable insights into the experiences of individuals with Turner syndrome in ancient times. It also challenges the notion that individuals with genetic conditions were marginalized or excluded in ancient societies.

4. What are the implications of this research for understanding gender identity and diversity in the past?

This discovery highlights the importance of studying sex chromosomes in ancient DNA analysis. By examining the genetic makeup of individuals, researchers can gain insights into how perceptions of gender identity and diversity have evolved over time. This knowledge contributes to a more inclusive understanding of human history and challenges traditional binary categories of gender.

5. What are the broader implications of this research?

The research team’s method has far-reaching implications beyond the study of Turner syndrome. It can be applied to analyze incomplete ancient DNA, classify DNA contamination, and investigate genetic diversity in archaeological remains that were previously difficult to analyze. This opens up exciting possibilities for further research and a deeper understanding of the genetic makeup of ancient populations.

Links to additional Resources:

https://www.crick.ac.uk/ https://www.ox.ac.uk/ https://www.york.ac.uk/

Related Wikipedia Articles

Topics: Turner syndrome (genetic disorder), Ancient DNA analysis, Genetic diversity in ancient populations

Turner syndrome
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a female is partially or completely missing an X chromosome (sex chromosome monosomy). Most people have two sex chromosomes (XX or XY). It only affects women. Signs and symptoms vary among those affected. Often, a...
Read more: Turner syndrome

Ancient DNA
Ancient DNA (aDNA) is DNA isolated from ancient specimens. Due to degradation processes (including cross-linking, deamination and fragmentation) ancient DNA is more degraded in comparison with contemporary genetic material. Even under the best preservation conditions, there is an upper boundary of 0.4–1.5 million years for a sample to contain sufficient...
Read more: Ancient DNA

Human genetic variation
Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism. No two humans are genetically identical. Even monozygotic twins (who develop from one zygote) have infrequent genetic differences due to mutations...
Read more: Human genetic variation

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