Academic Journal
Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA
| العنوان: | Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA |
|---|---|
| المؤلفون: | Rohrlach, Adam B., Rivollat, Maïté, Miguel Ibáñez, María Paz de, Moilanen, Ulla, Liira, Anne-Mari, Teixeira, João C., Roca-Rada, Xavier, Armendáriz Martija, Javier, Boyadzhiev, Kamen, Boyadzhiev, Yavor, Llamas, Bastien, Tiliakou, Anthi, Mötsch, Angela, Tuke, Jonathan, Prevedorou, Eleni A., Polychronakou-Sgouritsa, Naya, Buikstra, Jane E., Onkamo, Päivi, Stockhammer, Philipp W., Heyne, Henrike O., Lemke, Johannes R., Risch, Roberto, Schiffels, Stephan, Krause, Johannes, Haak, Wolfgang, Prüfer, Kay |
| المساهمون: | Universidad de Alicante. Departamento de Prehistoria, Arqueología, Historia Antigua, Filología Griega y Filología Latina, Universidad de Alicante. Instituto Universitario de Investigación en Arqueología y Patrimonio Histórico, Prehistoria y Protohistoria |
| بيانات النشر: | Springer Nature |
| سنة النشر: | 2024 |
| المجموعة: | RUA - Repositorio Institucional de la Universidad de Alicante |
| مصطلحات موضوعية: | Ancient DNA, Trisomy 21, Down syndrome, Trisomy 18, Edwards syndrome, Prehistoric populations |
| الوصف: | 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. ; Open Access funding enabled and organized by Projekt DEAL. This 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 (to W.H.) and 851511 (to S.S.). J.C.T. is supported by the Australian Research Council (ARC) through a Discovery Early Career Researcher Award (DE210101235). The Max Planck - Harvard Research Center for the Archaeoscience of the Ancient Mediterranean (MHAAM) and 101001951-MySocialBeIng (to P.W.S.). R.R. is supported by The Catalan Institution for Research and Advanced Studies of the Generalitat de Catalunya. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 2041-1723 |
| Relation: | https://doi.org/10.1038/s41467-024-45438-1; info:eu-repo/grantAgreement/EC/H2020/771234; info:eu-repo/grantAgreement/EC/H2020/851511; Nature Communications. 2024, 15: 1294. https://doi.org/10.1038/s41467-024-45438-1; http://hdl.handle.net/10045/140959 |
| DOI: | 10.1038/s41467-024-45438-1 |
| الاتاحة: | http://hdl.handle.net/10045/140959 https://doi.org/10.1038/s41467-024-45438-1 |
| 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/. ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.75681F49 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 20411723 |
|---|---|
| DOI: | 10.1038/s41467-024-45438-1 |