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

Author

Listed:
  • Adam Benjamin Rohrlach

    (Max Planck Institute for Evolutionary Anthropology
    University of Adelaide)

  • Maïté Rivollat

    (Max Planck Institute for Evolutionary Anthropology
    Ghent University
    Durham University
    Bordeaux University)

  • Patxuka de-Miguel-Ibáñez

    (University of Alicante
    Sociedad de Ciencias Aranzadi
    Hospital Verge dels Lliris)

  • Ulla Moilanen

    (University of Turku)

  • Anne-Mari Liira

    (University of Turku)

  • João C. Teixeira

    (Australian National University
    University of Adelaide
    University of Adelaide
    Universidade de Coimbra)

  • Xavier Roca-Rada

    (University of Adelaide)

  • Javier Armendáriz-Martija

    (Universidad Pública de Navarra)

  • Kamen Boyadzhiev

    (National Archaeological Institute with Museum at the Bulgarian Academy of Sciences)

  • Yavor Boyadzhiev

    (National Archaeological Institute with Museum at the Bulgarian Academy of Sciences)

  • Bastien Llamas

    (University of Adelaide
    University of Adelaide
    Australian National University
    Telethon Kids Institute, Indigenous Genomics Research Group)

  • Anthi Tiliakou

    (Max Planck Institute for Evolutionary Anthropology)

  • Angela Mötsch

    (Max Planck Institute for Evolutionary Anthropology
    Max Planck Institute for Evolutionary Anthropology)

  • Jonathan Tuke

    (University of Adelaide)

  • Eleni-Anna Prevedorou

    (Hellenic Center for Bioarchaeology)

  • Naya Polychronakou-Sgouritsa

    (National and Kapodistrian University of Athens)

  • Jane Buikstra

    (Arizona State University)

  • Päivi Onkamo

    (University of Turku
    University of Helsinki)

  • Philipp W. Stockhammer

    (Max Planck Institute for Evolutionary Anthropology
    Max Planck Institute for Evolutionary Anthropology
    Ludwig Maximilian University)

  • Henrike O. Heyne

    (University of Potsdam
    Mount Sinai School of Medicine
    University of Helsinki)

  • Johannes R. Lemke

    (University of Leipzig Medical Center
    University of Leipzig Medical Center)

  • Roberto Risch

    (Universitat Autònoma de Barcelona)

  • Stephan Schiffels

    (Max Planck Institute for Evolutionary Anthropology)

  • Johannes Krause

    (Max Planck Institute for Evolutionary Anthropology)

  • Wolfgang Haak

    (Max Planck Institute for Evolutionary Anthropology)

  • Kay Prüfer

    (Max Planck Institute for Evolutionary Anthropology)

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.

Suggested Citation

  • 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 Boyadz, 2024. "Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA," Nature Communications, Nature, vol. 15(1), pages 1-8, December.
    • Handle: RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-45438-1
    DOI: 10.1038/s41467-024-45438-1
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    References listed on IDEAS

    as
    1. Laura R. Goodfellow & Susannah Earl & Cyrus Cooper & Nicholas C. Harvey, 2010. "Maternal Diet, Behaviour and Offspring Skeletal Health," IJERPH, MDPI, vol. 7(4), pages 1-13, April.
    2. Sandra Penske & Adam B. Rohrlach & Ainash Childebayeva & Guido Gnecchi-Ruscone & Clemens Schmid & Maria A. Spyrou & Gunnar U. Neumann & Nadezhda Atanassova & Katrin Beutler & Kamen Boyadzhiev & Yavor , 2023. "Early contact between late farming and pastoralist societies in southeastern Europe," Nature, Nature, vol. 620(7973), pages 358-365, August.
    3. Lara M. Cassidy & Ros Ó Maoldúin & Thomas Kador & Ann Lynch & Carleton Jones & Peter C. Woodman & Eileen Murphy & Greer Ramsey & Marion Dowd & Alice Noonan & Ciarán Campbell & Eppie R. Jones & Valeria, 2020. "A dynastic elite in monumental Neolithic society," Nature, Nature, vol. 582(7812), pages 384-388, June.
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