ESPEYB21 6. Differences of Sexual Development (DSD) and Gender Incongruence (GI) New Clinical Insights into Klinefelter Syndrome (3 abstracts)
6.10. Detection of chromosomal aneuploidy in ancient genomes
Anastasiadou K , Silva M , Booth T , Speidel L , Audsley T , Barrington C , Buckberry J , Fernandes D , Ford B , Gibson M , Gilardet A , Glocke I , Keefe K , Kelly M , Masters M , McCabe J , McIntyre L , Ponce P , Rowland S , Ruiz Ventura J , Swali P , Tait F , Walker D , Webb H , Williams M , Witkin A , Holst M , Loe L , Armit I , Schulting R & Skoglund P
Commun Biol. 2024 Jan 11;7(1):14. doi: 10.1038/s42003-023-05642-z. PMID: 38212558
Brief Summary: This study marks significant progress in understanding ancient genomes, particularly in deciphering chromosomal sex, aneuploidies, and their broader historical and societal implications. By extracting and analyzing DNA from ancient remains, researchers have uncovered new insights into disorders of sex development (DSDs) that were previously inaccessible. These authors pioneered a computational method to identify sex chromosomal aneuploidies. This approach independently quantifies the number of observed sequences aligning to any chromosome and compares them to an ’autosomal baseline,’ a sum of sequences aligning to chromosomes 1 through 22, excluding chromosomes 13, 18, and 21, known for their association with autosomal aneuploidies that survive to birth in significant numbers.
This method was applied to 570 ancient genomes from Viking Age Northern Europe and ancient Rome. It identified some of the earliest known cases of sex chromosome syndromes, such as Klinefelter syndrome (KS; 47,XXY), Mosaic Turner syndrome (TS; 45,X/46,XX) and Jacobs syndrome (47,XYY).
The study demonstrates the power of ancient DNA analysis in overcoming the limitations of traditional osteological methods to determine sex, which can be inaccurate, particularly with incomplete skeletal remains or nonadult individuals. The development of computational methods to distinguish between various karyotypes and detect aneuploidies represents a significant advancement in genomic archaeology, enabling more accurate sex identification and insights into the societal context of individuals with aneuploidies in the past.
Identifying aneuploidies like KS, repeatedly observed in ancient genomic records, and detecting other conditions such as TS and Down syndrome offer a nuanced understanding of how these individuals may have been perceived and integrated into their communities. The study suggests that individuals with aneuploidies were generally buried according to the customs of their time, indicating they were considered ordinary members of their communities. Additionally, evidence of delayed growth and the absence of offspring buried nearby may reflect hypogonadism and reduced fertility.
This study advances the technical capabilities of ancient DNA analysis and opens new avenues for exploring the complex relationships between genetics, identity, and society in historical populations. It emphasizes the importance of integrating genomic data with osteological and archaeological evidence to construct a more comprehensive picture of the human past. For a commentary on this article see (1).
Reference: 1. Wong C. Ancient DNA reveals first known case of sex-development disorder. Nature. 2024 Jan;625(7996):639. doi: 10.1038/d41586-024-00101-z. PMID: 38216764.
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