Turner syndrome is genetic condition In this case, the (female) person has only one X chromosome instead of two. Scientists say they have identified the first prehistoric person with the syndrome, dating back nearly 2,500 years, using a new computational method that precisely measures sex chromosomes. recent papers Published in the journal “Communication Biology”. The research team identified four individuals with sex chromosomes other than the usual XX or XY designations. Jacobs syndrome (XYY) and three people from various eras Klinefelter syndrome (XXY). They also identified Iron Age infants as: Down’s syndrome.
“Because these people were not found with their belongings or in unusual graves, it is difficult to get a complete picture of how they lived and interacted with society, but it is difficult to get a complete picture of how they lived and interacted with society, but We can gain some insight into how perceptions of gender identity have evolved over time.” Co-author Kakia Anastasiadou said:a graduate student at the Francis Crick Institute.
Co-author Rick Schulting, an archaeologist at the University of Oxford, added: It was created using ancient DNA analysis. ”
According to the authors, the advent of ancient genomics “revolutionized our ability to interrogate human biology over millennia, revealing phenotypic diversity, social stratification, and how they have influenced health throughout history.” “This has provided insight into the impact it has on When determining sex identification of ancient sites, genomic data can often overcome some of the limitations of traditional osteological analysis, which is less useful when skeletal remains are incomplete or when analyzing non-adult remains. Masu. Although there are several publicly available tools for performing ancient DNA analysis, they are not very useful in detecting extra or missing sex chromosomes.
Anastasiadou et al. relied on a large database of ancient DNA collected as part of the. A thousand ancient British genomes project. Their new computational technique involves determining a predicted baseline number of X and Y chromosomes expected to be observed, and then carefully counting the exact number of X and Y chromosomes present in the sample. It included comparing with. They combined this technique with osteological methods.
The skeleton of a young adult female, whose age was determined based on tooth wear, found at the Charterhouse Warren site in Somerset dates back to the Early Iron Age. Genetic analysis revealed that some cells had her one X chromosome and others had her normal two X chromosomes, a condition known as mosaic Turner syndrome. Ta. Women with Turner syndrome usually receive human growth hormone and estrogen replacement therapy to increase height and to stimulate the onset of puberty, respectively. The remains included a portion of the skull, with prominent depressions in the eye sockets, evidence of chronic intestinal bleeding, which may be related to Turner syndrome but is often the result of anemia. It is. Osteological analysis revealed evidence of growth retardation, and the woman was unlikely to have started menstruation after puberty.
The boy, who has an extra chromosome 21 (a sign of Down syndrome), was found at the Wetwang Slack site buried in a square barrow ditch with an adult woman, but the infant was not buried. According to the author, the two were not necessarily related because there were many in the existing burrow. The skeleton with his extra Y chromosome also showed osteological evidence consistent with Jacobs syndrome (male, over 46 years old, estimated between 680 and 890 AD). It was discovered at the Lincoln Eastern Bypass site in Lincolnshire.
The three human bones that showed evidence of Klinefelter syndrome were all buried at different times, according to burial customs of the time. A skeleton (male, 17-19 years old, c. 450 BC) was discovered in an Iron Age cemetery called Wetwang Slack in Yorkshire. The other (male, 36-45 years old, 12th-13th century) came from a medieval cemetery beneath the longwall quad of Magdalen College, Oxford. A further tomb (16th-19th century, 18th-19th century) was discovered at Trinity Burial Ground, Kingston upon Hull. All three skeletons showed signs of delayed puberty and were slightly taller than average for the time, consistent with genetic evidence showing an extra X chromosome.
These and other disorders of sex development (DSD) can cause mixed or ambiguous gender-related physical characteristics, but in mild cases “you may not even know you have a disorder of sex development.” “There is,” the researchers wrote. People with DSDs in the past were likely to have lived according to traditional gender norms, as were the aforementioned people, but none were buried with grave goods. However, the authors state: 2022 survey Early medieval Finnish human remains with possible Klinefelter syndrome buried with grave goods of both men and women. Additionally, some Iron Age women have been found buried with “objects of power” that were usually buried with men.
“Our method can also classify DNA contamination in many cases and is useful for analyzing incomplete ancient DNA. Therefore, it has the potential to be applied to archaeological sites that have been difficult to analyze. there is.” Co-author Pontus Skoglund said:, Director of the Crick Institute for Ancient Genomics. “Combining this data with burial conditions and artifacts allows for a historical perspective on how sex, gender, and diversity were perceived in past societies. The common resource of ancient DNA data continues to grow. We hope to see this kind of approach applied within.”
Communication Biology, 2024. DOI: 10.1038/s42003-023-05642-z (About DOI).