TY - JOUR
T1 - Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA
AU - Rohrlach, Adam Benjamin
AU - Rivollat, Maïté
AU - de-Miguel-Ibáñez, Patxuka
AU - Moilanen, Ulla
AU - Liira, Anne Mari
AU - Teixeira, João C.
AU - Roca-Rada, Xavier
AU - Armendáriz-Martija, Javier
AU - Boyadzhiev, Kamen
AU - Boyadzhiev, Yavor
AU - Llamas, Bastien
AU - Tiliakou, Anthi
AU - Mötsch, Angela
AU - Tuke, Jonathan
AU - Prevedorou, Eleni Anna
AU - Polychronakou-Sgouritsa, Naya
AU - Buikstra, Jane
AU - Onkamo, Päivi
AU - Stockhammer, Philipp W.
AU - Heyne, Henrike O.
AU - Lemke, Johannes R.
AU - Risch, Roberto
AU - Schiffels, Stephan
AU - Krause, Johannes
AU - Haak, Wolfgang
AU - Prüfer, Kay
N1 - Publisher Copyright:
© The Author(s) 2024.
PY - 2024/12
Y1 - 2024/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85185522688&partnerID=8YFLogxK
U2 - 10.1038/s41467-024-45438-1
DO - 10.1038/s41467-024-45438-1
M3 - Article
SN - 2041-1723
VL - 15
JO - Nature Communications
JF - Nature Communications
IS - 1
M1 - 1294
ER -