Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

Adam Benjamin Rohrlach*, Maïté Rivollat, Patxuka de-Miguel-Ibáñez, Ulla Moilanen, Anne Mari Liira, João C. Teixeira, Xavier Roca-Rada, Javier Armendáriz-Martija, Kamen Boyadzhiev, Yavor Boyadzhiev, Bastien Llamas, Anthi Tiliakou, Angela Mötsch, Jonathan Tuke, Eleni Anna Prevedorou, Naya Polychronakou-Sgouritsa, Jane Buikstra, Päivi Onkamo, Philipp W. Stockhammer, Henrike O. HeyneJohannes R. Lemke, Roberto Risch, Stephan Schiffels, Johannes Krause, Wolfgang Haak, Kay Prüfer*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

Abstract

Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials. We perform comparative osteological examinations of the skeletal remains and find overlapping skeletal markers, many of which are consistent with these syndromes. Interestingly, three cases of trisomy 21, and the case of trisomy 18 were detected in two contemporaneous sites in early Iron Age Spain (800-400 BCE), potentially suggesting a higher frequency of burials of trisomy carriers in those societies. Notably, the care with which the burials were conducted, and the items found with these individuals indicate that ancient societies likely acknowledged these individuals with trisomy 18 and 21 as members of their communities, from the perspective of burial practice.

Original languageEnglish
Article number1294
JournalNature Communications
Volume15
Issue number1
DOIs
Publication statusPublished - Dec 2024

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