Ancient DNA Unveils Earliest Recorded Case of Sex-Development Disorder

Researchers have identified some of the earliest known cases of sex-chromosome syndromes in five ancient humans, shedding light on the presence of these conditions throughout human history and their integration into societies. The study, published on January 11 in Communications Biology, explores the genetic differences in appearance and behavior that individuals with extra or missing chromosomes often exhibit compared to the general population.

Previously, sequencing ancient DNA revealed cases of atypical chromosome numbers, including an infant with Down syndrome from around 5,000 years ago. In the recent study, Kyriaki Anastasiadou and her colleagues discovered the first prehistoric individual with Turner syndrome, a condition occurring in females characterized by having only one complete copy of the X chromosome. This person lived in Somerset, UK, approximately 2,500 years ago during the Iron Age and displayed traits such as shorter stature and fertility issues.

The researchers also identified the earliest known person with Jacob's syndrome, an extra Y chromosome linked to above-average height, living around 1,100 years ago during the Early Medieval Period. Additionally, three ancient males from different time periods were found to have Klinefelter syndrome, an extra X chromosome associated with increased height, broader hips, and larger breasts.

DNA samples extracted from teeth, skulls, jaws, and ear bones were analyzed using computational tools to determine the presence and ratio of X and Y chromosomes. The researchers found no evidence that individuals with sex-chromosome syndromes were treated differently in terms of burial or cause of death.

Anthropologist Bettina Arnold at the University of Wisconsin–Milwaukee sees this research as a significant breakthrough providing insight into ancient societies' perception and treatment of differences. The approach offers a window into understanding how past societies viewed sex, gender, and disabilities associated with certain genetic syndromes, according to archaeologist Ulla Moilanen at the University of Turku in Finland.

klinefelter syndrome

xxy syndrome

xxy chromosome

rough endoplasmic reticulum function

cftr

trisomy x

xxy chromosome disorder

types of down syndrome

sex chromosome

the genetic material of eukaryotic cells is contained in