Armendáriz Martija, Javier
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Armendáriz Martija
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Javier
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Ciencias humanas y de la educación
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I-COMMUNITAS. Institute for Advanced Social Research
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Publication Open Access Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA(Nature Research, 2024) Rohrlach, Adam Benjamin; Rivollat, Maïté; Miguel-Ibáñez, Patxuka 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-Anna; Polychronakou-Sgouritsa, Naya; Buikstra, Jane; Onkamo, Päivi; Stockhammer, Philipp W.; Heyne, Henrike O.; Lemke, Johannes R.; Risch, Roberto; Schiffels, Stephan; Krause, Johannes; Haak, Wolfgang; Prüfer, Kay; Ciencias humanas y de la educación; Giza eta Hezkuntza ZientziakAneuploidies, 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.Publication Open Access Intramural child burials in Iron Age Navarra: how ancient DNA can contribute to household archaeology(Propileo, 2023) Papac, Luka; Miguel-Ibáñez, Patxuka de; Rohrlach, Adam Benjamin; Armendáriz Martija, Javier; Peres, Marcello; Lamnidis, Thiseas C.; Mötsch, Angela; Schiffels, Stephan; Risch, Roberto; Ciencias humanas y de la educación; Giza eta Hezkuntza Zientziak; Institute for Advanced Social Research - ICOMMUNITASThe transition from the Late Bronze to the Iron Age on the Iberian Peninsula saw a shift in mortuary customs from mainly inhumation to cremation of the deceased. The poor preservation characteristic of cremated skeletal remains has hindered molecular analyses (isotope analyses, ancient DNA) of the Iberian Final Bronze and Iron Age communities of Iberia. Incidentally, a limited number of young children, often newborns, were exempt from the predominant cremation ritual, in favour of intramural inhumations inside buildings at certain settlements. The discourse surrounding the mean- ing and interpretation of this particular burial rite has developed over a long time in Iberian archaeology but has always been hampered by the limited anthropological, archaeological, and molecular data from these intramural inhumations. Here, we study the genomes of 37 intramurally buried children found in three Early Iron Age settlements, dated between c. 800–450 BC. Population genetic analyses on the newly reported individuals extend our understanding of ancient Iberia by revealing previously unsampled genetic diversity as well as showing a lesser influence of Mediterranean ancestry than on previously published Iron Age individuals from northern Spain. We also provide insights into the sex and biological relatedness of the children, and in so doing, elucidate differ- ent aspects of the intramural burial ritual and building use in settlements. More broadly, the genetic data from these individuals fill an important gap in the archaeogenetic record of northern Spain and offer a unique opportunity to study the genetic makeup and population changes from the Bronze Age to Antiquity.