Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA
Rohrlach, Adam Benjamin (University of Adelaide. School of Computer and Mathematical Sciences)
Rivollat, Maïté (Bordeaux University)
de Miguel Ibáñez, Ma. Paz (Hospital Verge dels Lliris (Alacant, Espanya))
Moilanen, Ulla (University of Turku. Department of Biology)
Liira, Anne-Mari (University of Turku. Department of Archaeology)
Teixeira, João C. (Universidade de Coimbra. Centro de Estudos Interdisciplinares)
Roca Rada, Xavier (University of Adelaide. Australian Centre for Ancient DNA)
Armendáriz-Martija, Javier (Universidad Pública de Navarra. Departamento de Ciencias Humanas y de la Educación)
Boyadzhiev, Kamen (National Archaeological Institute with Museum at the Bulgarian Academy of Sciences)
Boyadzhiev, Yavor (National Archaeological Institute with Museum at the Bulgarian Academy of Sciences)
Llamas, Bastien (Telethon Kids Institute, Indigenous Genomics Research Group)
Tiliakou, Anthi (Max Planck Institute for Evolutionary Anthropology. Department of Archaeogenetics)
Mötsch, Angela (Max Planck Institute for Evolutionary Anthropology. Max Planck-Harvard Research Center for the Archaeoscience of the Ancient Mediterranean (MHAAM))
Tuke, Jonathan (University of Adelaide. School of Computer and Mathematical Sciences)
Prevedorou, Eleni-Anna (Hellenic Center for Bioarchaeology, Athens, Greece)
Polychronakou-Sgouritsa, Naya (National and Kapodistrian University of Athens. Department of History and Archaeology)
Buikstra, Jane (Arizona State University. Department of Anthropology)
Onkamo, Päivi (University of Helsinki. Department of Biosciences)
Stockhammer, Philipp W. (Ludwig Maximilian University. Institute for Pre- and Protohistoric Archaeology and Archaeology of the Roman Provinces)
Heyne, Henrike O. (University of Helsinki. Finnish Institute for Molecular Medicine (FIMM))
Lemke, Johannes R. (University of Leipzig Medical Center. Center for Rare Diseases)
Risch, Robert (Universitat Autònoma de Barcelona. Departament de Prehistòria)
Schiffels, Stephan (Max Planck Institute for Evolutionary Anthropology. Department of Archaeogenetics)
Krause, Johannes (Max Planck Institute for Evolutionary Anthropology. Department of Archaeogenetics)
Haak, Wolfgang (Max Planck Institute for Evolutionary Anthropology. Department of Archaeogenetics)
Prüfer, Kay (Max Planck Institute for Evolutionary Anthropology. Department of Archaeogenetics)

Date:	2024
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. Information on the occurrence of aneuploidies in prehistory human populations are rare. Here, from a large screen of ancient human genomes and osteological examination, the authors find genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome) in historic and prehistoric infants.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Aneuploidy ; History ; Genomics
Published in:	Nature communications, Vol. 15 (february 2024) , Article number 1294, ISSN 2041-1723

DOI: 10.1038/s41467-024-45438-1
PMID: 38378781

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