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

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 tar...

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Detalles Bibliográficos
Autores: Rohrlach, Adam Benjamin, Rivollat, Maïté, Miguel-Ibáñez, Patxuka de, Moilanen, Ulla, Liira, Anne-Mari, Teixeira, João C., Roca-Rada, Xavier, Armendáriz Martija, Javier, Boyadzhiev, Kamen, Boyadzhiev, Yavor, Llamas, Bastien, Tiliakou, Anthi, Mötsch, Angela, Tuke, Jonathan, Prevedorou, Eleni-Anna, Polychronakou-Sgouritsa, Naya, Buikstra, Jane, Onkamo, Päivi, Stockhammer, Philipp W., Heyne, Henrike O., Lemke, Johannes R., Risch, Roberto, Schiffels, Stephan, Krause, Johannes, Haak, Wolfgang, Prüfer, Kay
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Universidad Pública de Navarra
Repositorio:Academica-e. Repositorio Institucional de la Universidad Pública de Navarra
OAI Identifier:oai:academica-e.unavarra.es:2454/51478
Acceso en línea:https://hdl.handle.net/2454/51478
Access Level:acceso abierto
Palabra clave:Aneuploidy
Trisomy
Genomics
History
Descripción
Sumario: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.

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