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

Autor: Rohrlach AB; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany. adam_ben_rohrlach@eva.mpg.de.; School of Computer and Mathematical Sciences, University of Adelaide, Adelaide, SA, Australia. adam_ben_rohrlach@eva.mpg.de., Rivollat M; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.; ArcheOs lab, Department of Archaeology, Ghent University, Sint-Pietersnieuwstraat 35, 9000, Gent, Belgium.; Archaeo-DNA lab, Department of Archaeology, Durham University, Lower Mount Joy, South Road, Durham, DH1 3LE, UK.; De la Préhistoire à l'Actuel, Culture, Environnement, Anthropologie - UMR 5199, Bordeaux University, Bât. B8, Allée Geoffroy Saint Hilaire, CS50023, 33615, Pessac cedex, France., de-Miguel-Ibáñez P; Department of Prehistory, Archaeology, Ancient History and Greek and Latin Philology, INAPH, University of Alicante, San Vicente del Raspeig, Spain.; Sociedad de Ciencias Aranzadi, Donosti, Spain.; Hospital Verge dels Lliris, Alcoi, Alicante, Spain., Moilanen U; Department of Biology, University of Turku, Turku, Finland., Liira AM; Department of Archaeology, University of Turku, Turku, Finland., Teixeira JC; Evolution of Cultural Diversity Initiative, Australian National University, Canberra, ACT, Australia.; Australian Centre for Ancient DNA, School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.; Centre of Excellence for Australian Biodiversity and Heritage, University of Adelaide, Adelaide, SA, Australia.; CEIS.20 Centro de Estudos Interdisciplinares, Universidade de Coimbra, Coimbra, Portugal., Roca-Rada X; Australian Centre for Ancient DNA, School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia., Armendáriz-Martija J; Departamento de Ciencias Humanas y de la Educación, Universidad Pública de Navarra, Pamplona, Spain., Boyadzhiev K; National Archaeological Institute with Museum at the Bulgarian Academy of Sciences, Saborna str. 2, Sofia, Bulgaria., Boyadzhiev Y; National Archaeological Institute with Museum at the Bulgarian Academy of Sciences, Saborna str. 2, Sofia, Bulgaria., Llamas B; Australian Centre for Ancient DNA, School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.; Centre of Excellence for Australian Biodiversity and Heritage, University of Adelaide, Adelaide, SA, Australia.; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia.; Telethon Kids Institute, Indigenous Genomics Research Group, Adelaide, SA, Australia., Tiliakou A; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany., Mötsch A; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.; Max Planck-Harvard Research Center for the Archaeoscience of the Ancient Mediterranean (MHAAM), Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, Leipzig, Germany., Tuke J; School of Computer and Mathematical Sciences, University of Adelaide, Adelaide, SA, Australia., Prevedorou EA; Hellenic Center for Bioarchaeology, Athens, Greece., Polychronakou-Sgouritsa N; Department of History and Archaeology, National and Kapodistrian University of Athens, Athens, Greece., Buikstra J; Department of Anthropology, Arizona State University, Tempe, AZ, USA., Onkamo P; Department of Biology, University of Turku, Turku, Finland.; Department of Biosciences, University of Helsinki, Helsinki, Finland., Stockhammer PW; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.; Max Planck-Harvard Research Center for the Archaeoscience of the Ancient Mediterranean (MHAAM), Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, Leipzig, Germany.; Institute for Pre- and Protohistoric Archaeology and Archaeology of the Roman Provinces, Ludwig Maximilian University, Geschwister-Scholl-Platz 1, München, Germany., Heyne HO; Hasso-Plattner-Institute, University of Potsdam, Potsdam, Germany.; Hasso Plattner Institute, Mount Sinai School of Medicine, New York, USA.; Finnish Institute for Molecular Medicine (FIMM), University of Helsinki, Helsinki, Finland., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Risch R; Departament de Prehistòria, Universitat Autònoma de Barcelona, Bellaterra, Spain., Schiffels S; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany., Krause J; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany., Haak W; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany., Prüfer K; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany. pruefer@eva.mpg.de.
Jazyk: angličtina
Zdroj: Nature communications [Nat Commun] 2024 Feb 20; Vol. 15 (1), pp. 1294. Date of Electronic Publication: 2024 Feb 20.
DOI: 10.1038/s41467-024-45438-1
Abstrakt: 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.
(© 2024. The Author(s).)
Databáze: MEDLINE
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