As of: February 3, 2024, 6:13 a.m
By: Lennart Schwenck
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A revolutionary DNA analysis from the Francis Crick Institute reveals prehistoric genetics.
Findings confirm Down syndrome and other gene mutations.
London - In a groundbreaking study by the Francis Crick Institute, scientists have unlocked the secrets of ancient human genomes using innovative DNA analysis methods.
The results, recently published in
Communications Biology
, reveal not only the first prehistoric individual with mosaic Turner syndrome over 2,500 years ago, but also the earliest case of Jacob's syndrome in the early Middle Ages.
There are also three cases of Klinefelter syndrome from different time periods and a child with Down syndrome from the Iron Age.
Although the find is less than two million years old, like the oldest DNA material found to date, it is the oldest evidence of intersex people based on their biological genetic makeup.
During excavations in England, researchers discover a 2,500-year-old skeleton with an unnatural number of chromosomes in the DNA of the bone marrow remains.
(Symbolic image) © Imago Images
Oldest evidence of transsexuality
The researchers developed a computer-based method to precisely measure sex chromosomes to prevent decay and contamination of ancient DNA.
Applying this method to the Thousand Ancient British Genomes project data set identified six individuals with aneuploidies - the irregularity in the number of human chromosomes - at various locations in Somerset, Yorkshire, Oxford and Lincoln (Eastern Bypass) from the Iron Age to the 19th century Post-medieval.
Sex chromosome abnormalities:
The human body consists of a total of 46 chromosomes.
Females carry two X chromosomes
(XX)
, while males have one X and one Y chromosome
(XY)
.
Just like a sperm, an egg cell contains 23 chromosomes.
However, eggs always only contain X chromosomes, since a woman does not have Y chromosomes that she can inherit.
Sperm can contain either a “data set” of X chromosomes or Y chromosomes.
Male germ cells determine a person's biological gender, because the sex of the future child is determined by the sex chromosome, which is transmitted by the fertilizing sperm cell.
But there are also people who have more or fewer than 46 chromosomes.
Sex chromosomal abnormalities can be caused by complete or partial deletions (loss of a section of DNA)
or duplications (additional DNA sections)
caused by sex chromosomes.
Incorrect inheritance of chromosomes during cell division disrupts the balance of cells.
The resulting cells are aneuploid, meaning they have an aberrant number of chromosomes.
Aneuploidy is harmful in most cases and characterizes pathological conditions such as Down syndrome or cancer.
Down Syndrome – Trisomy 21 (XXX/XXY):
People with trisomy 21 have one chromosome 21 in triplicate, resulting in a total of 47 chromosomes.
Typical features include characteristic facial and body features as well as increased susceptibility to infections and a higher risk of leukemia.
The causes can arise from errors in egg maturation, particularly during meiosis, with maternal age influencing the risk.
Jacob syndrome (XYY):
XYY syndrome is characterized by the presence of two Y chromosomes and one X chromosome in males.
It occurs in about 1 in 1,000 male births.
Affected boys tend to be taller and often have slightly lower IQs.
Although physical problems are few, behavioral problems, hyperactivity, and attention and learning disorders may be more common.
Klinefelter syndrome (XXY):
Klinefelter syndrome is a sex chromosome abnormality in which boys are born with XXY chromosomes.
Symptoms can include infertility, learning disabilities, long arms and legs, and small testicles.
Diagnosis occurs during puberty and some patients benefit from testosterone treatment.
The condition affects about 1 in 500 boys, most inheriting the extra X chromosome from their mother.
Those affected often have normal or slightly reduced intelligence, but may have language and reading disorders and other difficulties.
There is also an increased risk of diabetes, lung disease and breast cancer.
Mosaic Turner syndrome (X):
Ullrich-Turner syndrome affects around 1 in 2,500 newborn girls, with around 16,000 girls and women affected in Germany.
It is not a hereditary disease, but rather random changes in the genetic makeup of those affected.
Girls with this syndrome have either only one X chromosome (monosomy X) or a severely altered second X chromosome in their body cells.
The pair of chromosomes can also be missing in some body cells (mosaic).
Despite the lack of chances of recovery, most of those affected can lead an independent and fulfilling life with good medical care.
The symptoms are varied, including small height, characteristic external features, slower growth, mental developmental features, problems with the ears, eyes, heart and blood vessels, bones, kidneys and sexual organs.
Heart and vascular diseases in particular can affect life expectancy.
(Sources:
Medical Genetic Center Munich
,
Max Planck Institute
,
patienten-information.de
)
The findings not only offer an in-depth exploration of human evolution, but also challenge conventional narratives.
Pontus Skoglund, group leader of the Ancient Genomics Laboratory at the Francis Crick Institute, explains in a press release from the University of York: "Our method is able to classify DNA contamination in many cases and can help analyze incomplete ancient DNA, so that it could be applied to archaeological remains that were difficult to analyze.
Combining this data with the context of the burial and possessions, one can understand from a historical perspective how sex, gender and diversity were perceived in past societies.
I hope this type of approach will be adopted as the shared resource of ancient DNA data continues to grow.”
An archaeologist excavating a skeleton at the Lincoln Eastern Bypass site © Network Archaeology
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The study shows that these genetic conditions have existed for over 2,000 years and opens new possibilities for DNA analysis of ancient remains.
Kakia Anastasiadou, a PhD student in the Ancient Genomics Laboratory at the Crick and lead author of the study, said: “By accurately measuring sex chromosomes, we were able to find the first prehistoric evidence of Turner syndrome 2,500 years ago and the earliest known appearance of Jacob syndrome around 1200 years.”
Anastasiadou continued: “It is difficult to get a complete picture of how these individuals lived and interacted with their society, as they were not found with possessions or in unusual graves, but it can provide insight into how the perception of the Gender identity has developed over time.” (
ls
)