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

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dc.contributor.authorRohrlach, Adam Benjamin
dc.contributor.authorRivollat, Maïté
dc.contributor.authorMiguel-Ibáñez, Patxuka de
dc.contributor.authorMoilanen, Ulla
dc.contributor.authorLiira, Anne-Mari
dc.contributor.authorTeixeira, João C.
dc.contributor.authorRoca-Rada, Xavier
dc.contributor.authorArmendáriz Martija, Javier
dc.contributor.authorBoyadzhiev, Kamen
dc.contributor.authorBoyadzhiev, Yavor
dc.contributor.authorLlamas, Bastien
dc.contributor.authorTiliakou, Anthi
dc.contributor.authorMötsch, Angela
dc.contributor.authorTuke, Jonathan
dc.contributor.authorPrevedorou, Eleni-Anna
dc.contributor.authorPolychronakou-Sgouritsa, Naya
dc.contributor.authorBuikstra, Jane
dc.contributor.authorOnkamo, Päivi
dc.contributor.authorStockhammer, Philipp W.
dc.contributor.authorHeyne, Henrike O.
dc.contributor.authorLemke, Johannes R.
dc.contributor.authorRisch, Roberto
dc.contributor.authorSchiffels, Stephan
dc.contributor.authorKrause, Johannes
dc.contributor.authorHaak, Wolfgang
dc.contributor.authorPrüfer, Kay
dc.contributor.departmentCiencias humanas y de la educaciónes_ES
dc.contributor.departmentGiza eta Hezkuntza Zientziakeu
dc.date.accessioned2024-08-28T16:35:26Z
dc.date.available2024-08-28T16:35:26Z
dc.date.issued2024
dc.date.updated2024-08-28T15:37:07Z
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.en
dc.description.sponsorshipThis study was supported by the Max Planck Society and the European Research Council (ERC) under the European Union's Horizon 2020 Research and Innovation Program Grant 771234-PALEoRIDER and 851511. Open Access funding enabled and organized by Projekt DEAL.
dc.format.mimetypeapplication/pdfen
dc.identifier.citationRohrlach, A. B., Rivollat, M., de-Miguel-Ibáñez, P., Moilanen, U., Liira, A.-M., Teixeira, J. C., Roca-Rada, X., Armendáriz-Martija, J., Boyadzhiev, K., Boyadzhiev, Y., Llamas, B., Tiliakou, A., Mötsch, A., Tuke, J., Prevedorou, E.-A., Polychronakou-Sgouritsa, N., Buikstra, J., Onkamo, P., Stockhammer, P. W., Heyne, H. O., Lemke, J. R., Risch, R., Schiffels, S., Krause, J., Haak, W., Prüfer, K. (2024) Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA. Nature Communications, 15(1), 1-8. https://doi.org/10.1038/s41467-024-45438-1.
dc.identifier.doi10.1038/s41467-024-45438-1
dc.identifier.issn2041-1723
dc.identifier.urihttps://academica-e.unavarra.es/handle/2454/51478
dc.language.isoeng
dc.publisherNature Research
dc.relation.ispartofNature Communications, (2024), 15:1294
dc.relation.projectIDinfo:eu-repo/grantAgreement/European Commission/Horizon 2020 Framework Programme/771234/
dc.relation.projectIDinfo:eu-repo/grantAgreement/European Commission/Horizon 2020 Framework Programme/851511/
dc.relation.publisherversionhttps://doi.org/10.1038/s41467-024-45438-1
dc.rights© The author(s) 2024. This article is licensed under a Creative Commons Attribution 4.0 International License.
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectAneuploidyen
dc.subjectTrisomyen
dc.subjectGenomicsen
dc.subjectHistoryen
dc.titleCases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNAen
dc.typeinfo:eu-repo/semantics/article
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dspace.entity.typePublication
relation.isAuthorOfPublicationf4c5a4de-8f02-4c7f-829d-b1bb48539db2
relation.isAuthorOfPublication.latestForDiscoveryf4c5a4de-8f02-4c7f-829d-b1bb48539db2

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