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

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dc.contributor.authorRohrlach, A.B.
dc.contributor.authorRivollat, M.
dc.contributor.authorde-Miguel-Ibáñez, P.
dc.contributor.authorMoilanen, U.
dc.contributor.authorLiira, A.-M.
dc.contributor.authorTeixeira, J.C.
dc.contributor.authorRoca-Rada, X.
dc.contributor.authorArmendáriz-Martija, J.
dc.contributor.authorBoyadzhiev, K.
dc.contributor.authorBoyadzhiev, Y.
dc.contributor.authorLlamas, B.
dc.contributor.authorTiliakou, A.
dc.contributor.authorMötsch, A.
dc.contributor.authorTuke, J.
dc.contributor.authorPrevedorou, E.-A.
dc.contributor.authorPolychronakou-Sgouritsa, N.
dc.contributor.authorBuikstra, J.
dc.contributor.authorOnkamo, P.
dc.contributor.authorStockhammer, P.W.
dc.contributor.authorHeyne, H.O.
dc.contributor.authoret al.
dc.date.issued2024
dc.description.abstractAneuploidies, 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.
dc.description.statementofresponsibilityAdam Benjamin Rohrlach, Maïté Rivollat, Patxuka de-Miguel-Ibáñez, Ulla Nordfors, 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. Heyne, Johannes R. Lemke, Roberto Risch, Stephan Schiffels, Johannes Krause, Wolfgang Haak, Kay Prüfer
dc.identifier.citationNature Communications, 2024; 15(1):1294-1-1294-8
dc.identifier.doi10.1038/s41467-024-45438-1
dc.identifier.issn2041-1723
dc.identifier.issn2041-1723
dc.identifier.orcidRohrlach, A.B. [0000-0002-4204-5018]
dc.identifier.orcidTeixeira, J.C. [0000-0001-6417-4702]
dc.identifier.orcidLlamas, B. [0000-0002-5550-9176]
dc.identifier.urihttps://hdl.handle.net/2440/144245
dc.language.isoen
dc.publisherNature Portfolio
dc.relation.granthttp://purl.org/au-research/grants/arc/DE210101235
dc.rights© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/ licenses/by/4.0/.
dc.source.urihttp://dx.doi.org/10.1038/s41467-024-45438-1
dc.subjectAneuploidy; Genomics; History
dc.subject.meshChromosome Disorders
dc.subject.meshDNA, Ancient
dc.subject.meshDown Syndrome
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshPregnancy
dc.subject.meshTrisomy
dc.subject.meshTrisomy 13 Syndrome
dc.subject.meshTrisomy 18 Syndrome
dc.titleCases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA
dc.typeJournal article
pubs.publication-statusPublished

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